psui3905/ncbi_genes_summary huggingface dataset:
REXO2, Official Symbol REXO2provided by HGNC Official Full Name RNA exonuclease 2provided by HGNC Primary source HGNC:HGNC:17851 See related Ensembl:ENSG00000076043 MIM:607149; AllianceGenome:HGNC:17851 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFN; SFN; REX2; CGI-114 Summary This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in heart (RPKM 41.6), kidney (RPKM 38.9) and 25 other tissues See more Orthologs mouse all
REXO4, Official Symbol REXO4provided by HGNC Official Full Name REX4 homolog, 3'-5' exonucleaseprovided by HGNC Primary source HGNC:HGNC:12820 See related Ensembl:ENSG00000148300 MIM:602930; AllianceGenome:HGNC:12820 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as REX4; XPMC2; XPMC2H Summary Enables DNA binding activity and nuclease activity. Involved in DNA catabolic process, endonucleolytic; DNA catabolic process, exonucleolytic; and DNA repair. Located in nuclear speck and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 10.2), testis (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
REXO5, Official Symbol REXO5provided by HGNC Official Full Name RNA exonuclease 5provided by HGNC Primary source HGNC:HGNC:24661 See related Ensembl:ENSG00000005189 AllianceGenome:HGNC:24661 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEF-sp Summary Predicted to enable exonuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 183.5) See more Orthologs mouse all
RFC1, Official Symbol RFC1provided by HGNC Official Full Name replication factor C subunit 1provided by HGNC Primary source HGNC:HGNC:9969 See related Ensembl:ENSG00000035928 MIM:102579; AllianceGenome:HGNC:9969 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as A1; RFC; PO-GA; RECC1; CANVAS; MHCBFB; RFC140 Summary This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] Annotation information Note: RFC1 (GeneID: 5981) and SLC19A1 (GeneID: 6573) share the RFC1 symbol/alias in common. RFC1 is the official symbol for the gene name 'replication factor C subunit 1' and is an alias for 'reduced folate carrier 1' on the 'solute carrier family 19 member 1' gene. [18 May 2018] Expression Ubiquitous expression in lymph node (RPKM 16.8), thyroid (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
RFC2, Official Symbol RFC2provided by HGNC Official Full Name replication factor C subunit 2provided by HGNC Primary source HGNC:HGNC:9970 See related Ensembl:ENSG00000049541 MIM:600404; AllianceGenome:HGNC:9970 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFC40 Summary This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in lymph node (RPKM 10.0), placenta (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
RFC3, Official Symbol RFC3provided by HGNC Official Full Name replication factor C subunit 3provided by HGNC Primary source HGNC:HGNC:9971 See related Ensembl:ENSG00000133119 MIM:600405; AllianceGenome:HGNC:9971 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFC38 Summary The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 1.9), bone marrow (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
RFC3P1, Official Symbol RFC3P1provided by HGNC Official Full Name replication factor C 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44531 See related Ensembl:ENSG00000236158 AllianceGenome:HGNC:44531 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RFC4, Official Symbol RFC4provided by HGNC Official Full Name replication factor C subunit 4provided by HGNC Primary source HGNC:HGNC:9972 See related Ensembl:ENSG00000163918 MIM:102577; AllianceGenome:HGNC:9972 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as A1; RFC37 Summary The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 108.6), ovary (RPKM 88.0) and 25 other tissues See more Orthologs mouse all
RFC5, Official Symbol RFC5provided by HGNC Official Full Name replication factor C subunit 5provided by HGNC Primary source HGNC:HGNC:9973 See related Ensembl:ENSG00000111445 MIM:600407; AllianceGenome:HGNC:9973 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFC36 Summary This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member of the AAA+ (ATPases associated with various cellular activities) ATPase family and forms a core complex with the 38 and 40 kDa subunits that possesses DNA-dependent ATPase activity. A related pseudogene has been identified on chromosome 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in brain (RPKM 10.5), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
RFESD, Official Symbol RFESDprovided by HGNC Official Full Name Rieske Fe-S domain containingprovided by HGNC Primary source HGNC:HGNC:29587 See related Ensembl:ENSG00000175449 AllianceGenome:HGNC:29587 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable 2 iron, 2 sulfur cluster binding activity and metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 3.0), bone marrow (RPKM 2.4) and 24 other tissues See more Orthologs mouse all
RFFL, Official Symbol RFFLprovided by HGNC Official Full Name ring finger and FYVE like domain containing E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:24821 See related Ensembl:ENSG00000092871 MIM:609735; AllianceGenome:HGNC:24821 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CARP2; FRING; CARP-2; RNF189; RNF34L; RIFIFYLIN Summary Enables enzyme binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in cellular protein metabolic process; negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis; and negative regulation of signal transduction. Located in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 18.0), esophagus (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
RFK, Official Symbol RFKprovided by HGNC Official Full Name riboflavin kinaseprovided by HGNC Primary source HGNC:HGNC:30324 See related Ensembl:ENSG00000135002 MIM:613010; AllianceGenome:HGNC:30324 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RIFK Summary Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009] Expression Ubiquitous expression in colon (RPKM 20.2), duodenum (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
RFKP2, Official Symbol RFKP2provided by HGNC Official Full Name riboflavin kinase pseudogene 2provided by HGNC Primary source HGNC:HGNC:39182 See related AllianceGenome:HGNC:39182 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RFLNA, Official Symbol RFLNAprovided by HGNC Official Full Name refilin Aprovided by HGNC Primary source HGNC:HGNC:27051 See related Ensembl:ENSG00000178882 MIM:615927; AllianceGenome:HGNC:27051 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CFM2; FAM101A Summary Predicted to enable filamin binding activity. Predicted to be involved in several processes, including actin filament bundle organization; negative regulation of bone mineralization involved in bone maturation; and negative regulation of chondrocyte development. Predicted to be located in cytoplasm. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 48.3), colon (RPKM 10.5) and 2 other tissues See more Orthologs mouse all
RFLNB, Official Symbol RFLNBprovided by HGNC Official Full Name refilin Bprovided by HGNC Primary source HGNC:HGNC:28705 See related Ensembl:ENSG00000183688 MIM:615928; AllianceGenome:HGNC:28705 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CFM1; FAM101B Summary Enables filamin binding activity. Predicted to be involved in several processes, including actin filament bundle organization; negative regulation of bone mineralization involved in bone maturation; and negative regulation of chondrocyte development. Predicted to act upstream of or within actin cytoskeleton organization and epithelial to mesenchymal transition. Predicted to be located in actin cytoskeleton. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Annotation category: partial on reference assembly Expression Biased expression in bone marrow (RPKM 60.7), fat (RPKM 15.4) and 13 other tissues See more Orthologs mouse all
RFNG, Official Symbol RFNGprovided by HGNC Official Full Name RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC Primary source HGNC:HGNC:9974 See related Ensembl:ENSG00000169733 MIM:602578; AllianceGenome:HGNC:9974 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within positive regulation of Notch signaling pathway and positive regulation of protein binding activity. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 13.6), fat (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
RFPL1, Official Symbol RFPL1provided by HGNC Official Full Name ret finger protein like 1provided by HGNC Primary source HGNC:HGNC:9977 See related Ensembl:ENSG00000128250 MIM:605968; AllianceGenome:HGNC:9977 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RNF78 Summary Predicted to enable ubiquitin-protein transferase activity. Involved in several processes, including negative regulation of G2/M transition of mitotic cell cycle; negative regulation of cell division; and positive regulation of proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 3.4), testis (RPKM 1.0) and 3 other tissues See more Orthologs all
RFPL2, Official Symbol RFPL2provided by HGNC Official Full Name ret finger protein like 2provided by HGNC Primary source HGNC:HGNC:9979 See related Ensembl:ENSG00000128253 MIM:605969; AllianceGenome:HGNC:9979 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RNF79 Summary Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to be active in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 5.5) and brain (RPKM 0.5) See more Orthologs all
RFPL3, Official Symbol RFPL3provided by HGNC Official Full Name ret finger protein like 3provided by HGNC Primary source HGNC:HGNC:9980 See related Ensembl:ENSG00000128276 MIM:605970; AllianceGenome:HGNC:9980 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RNF120 Summary Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to be located in cytoplasm. Predicted to be active in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 12.5) and prostate (RPKM 0.7) See more Orthologs all
RFPL3S, Official Symbol RFPL3Sprovided by HGNC Official Full Name RFPL3 antisenseprovided by HGNC Primary source HGNC:HGNC:9981 See related Ensembl:ENSG00000205853 MIM:605971; AllianceGenome:HGNC:9981 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFPL3AS; RFPL3-AS; RFPL3ANT; RFPL3-AS1; NCRNA00005 Expression Restricted expression toward testis (RPKM 31.5) See more
RFPL4A, Official Symbol RFPL4Aprovided by HGNC Official Full Name ret finger protein like 4Aprovided by HGNC Primary source HGNC:HGNC:16449 See related Ensembl:ENSG00000223638 MIM:612601; AllianceGenome:HGNC:16449 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFPL4; RNF210 Summary Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be active in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
RFPL4AL1, Official Symbol RFPL4AL1provided by HGNC Official Full Name ret finger protein like 4A like 1provided by HGNC Primary source HGNC:HGNC:45147 See related Ensembl:ENSG00000229292 AllianceGenome:HGNC:45147 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RNF210B Summary Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to be active in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
RFPL4AP1, Official Symbol RFPL4AP1provided by HGNC Official Full Name ret finger protein like 4A pseudogene 1provided by HGNC Primary source HGNC:HGNC:45138 See related Ensembl:ENSG00000255238 AllianceGenome:HGNC:45138 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RFPL4AP3, Official Symbol RFPL4AP3provided by HGNC Official Full Name ret finger protein like 4A pseudogene 3provided by HGNC Primary source HGNC:HGNC:45139 See related Ensembl:ENSG00000251220 AllianceGenome:HGNC:45139 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RFPL4AP5, Official Symbol RFPL4AP5provided by HGNC Official Full Name ret finger protein like 4A pseudogene 5provided by HGNC Primary source HGNC:HGNC:45144 See related Ensembl:ENSG00000248720 AllianceGenome:HGNC:45144 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RFPL4AP6, Official Symbol RFPL4AP6provided by HGNC Official Full Name ret finger protein like 4A pseudogene 6provided by HGNC Primary source HGNC:HGNC:45142 See related AllianceGenome:HGNC:45142 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RFPL4B, Official Symbol RFPL4Bprovided by HGNC Official Full Name ret finger protein like 4Bprovided by HGNC Primary source HGNC:HGNC:33264 See related Ensembl:ENSG00000251258 AllianceGenome:HGNC:33264 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RNF211 Summary Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
RFT1, Official Symbol RFT1provided by HGNC Official Full Name RFT1 homologprovided by HGNC Primary source HGNC:HGNC:30220 See related Ensembl:ENSG00000163933 MIM:611908; AllianceGenome:HGNC:30220 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CDG1N Summary This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008] Expression Ubiquitous expression in thyroid (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
RFTN1, Official Symbol RFTN1provided by HGNC Official Full Name raftlin, lipid raft linker 1provided by HGNC Primary source HGNC:HGNC:30278 See related Ensembl:ENSG00000131378 MIM:618210; AllianceGenome:HGNC:30278 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MIG2; PIG9; PIB10; RAFTLIN Summary Enables double-stranded RNA binding activity. Involved in B cell receptor signaling pathway; membrane raft assembly; and positive regulation of growth rate. Acts upstream of or within dsRNA transport; response to exogenous dsRNA; and toll-like receptor 3 signaling pathway. Located in endosome; membrane raft; and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 35.0), fat (RPKM 23.7) and 23 other tissues See more Orthologs mouse all
RFTN1P1, Official Symbol RFTN1P1provided by HGNC Official Full Name raftlin, lipid raft linker 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:23971 See related Ensembl:ENSG00000234795 AllianceGenome:HGNC:23971 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RFTN2, Official Symbol RFTN2provided by HGNC Official Full Name raftlin family member 2provided by HGNC Primary source HGNC:HGNC:26402 See related Ensembl:ENSG00000162944 MIM:618215; AllianceGenome:HGNC:26402 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2orf11; Raftlin-2 Summary Predicted to act upstream of or within dsRNA transport and response to exogenous dsRNA. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 9.8), fat (RPKM 3.7) and 18 other tissues See more Orthologs mouse all
RFWD3, Official Symbol RFWD3provided by HGNC Official Full Name ring finger and WD repeat domain 3provided by HGNC Primary source HGNC:HGNC:25539 See related Ensembl:ENSG00000168411 MIM:614151; AllianceGenome:HGNC:25539 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FANCW; RNF201 Summary Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of DNA damage. Colocalizes with site of double-strand break. Implicated in Fanconi anemia. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 15.0), bone marrow (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
RFX1, Official Symbol RFX1provided by HGNC Official Full Name regulatory factor X1provided by HGNC Primary source HGNC:HGNC:9982 See related Ensembl:ENSG00000132005 MIM:600006; AllianceGenome:HGNC:9982 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EFC; RFX Summary This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016] Expression Broad expression in testis (RPKM 5.4), spleen (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
RFX2, Official Symbol RFX2provided by HGNC Official Full Name regulatory factor X2provided by HGNC Primary source HGNC:HGNC:9983 See related Ensembl:ENSG00000087903 MIM:142765; AllianceGenome:HGNC:9983 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 41.1), lung (RPKM 6.6) and 4 other tissues See more Orthologs mouse all
RFX4, Official Symbol RFX4provided by HGNC Official Full Name regulatory factor X4provided by HGNC Primary source HGNC:HGNC:9985 See related Ensembl:ENSG00000111783 MIM:603958; AllianceGenome:HGNC:9985 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NYD-SP10 Summary This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] Expression Restricted expression toward testis (RPKM 40.0) See more Orthologs mouse all
RFX5, Official Symbol RFX5provided by HGNC Official Full Name regulatory factor X5provided by HGNC Primary source HGNC:HGNC:9986 See related Ensembl:ENSG00000143390 MIM:601863; AllianceGenome:HGNC:9986 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 26.5), spleen (RPKM 21.2) and 24 other tissues See more Orthologs mouse all
RFX6, Official Symbol RFX6provided by HGNC Official Full Name regulatory factor X6provided by HGNC Primary source HGNC:HGNC:21478 See related Ensembl:ENSG00000185002 MIM:612659; AllianceGenome:HGNC:21478 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MTFS; MTCHRS; RFXDC1; dJ955L16.1 Summary The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010] Expression Biased expression in stomach (RPKM 4.5), adrenal (RPKM 2.6) and 6 other tissues See more Orthologs mouse all
RFX7, Official Symbol RFX7provided by HGNC Official Full Name regulatory factor X7provided by HGNC Primary source HGNC:HGNC:25777 See related Ensembl:ENSG00000181827 MIM:612660; AllianceGenome:HGNC:25777 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MRD71; RFXDC2 Summary RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009] Expression Ubiquitous expression in testis (RPKM 3.9), lymph node (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
RFX8, Official Symbol RFX8provided by HGNC Official Full Name regulatory factor X8provided by HGNC Primary source HGNC:HGNC:37253 See related Ensembl:ENSG00000196460 AllianceGenome:HGNC:37253 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 1.7), testis (RPKM 0.8) and 12 other tissues See more Orthologs mouse all
RFXANK, Official Symbol RFXANKprovided by HGNC Official Full Name regulatory factor X associated ankyrin containing proteinprovided by HGNC Primary source HGNC:HGNC:9987 See related Ensembl:ENSG00000064490 MIM:603200; AllianceGenome:HGNC:9987 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLS; RFX-B; ANKRA1; F14150_1 Summary Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in thyroid (RPKM 13.0), bone marrow (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
RFXAP, Official Symbol RFXAPprovided by HGNC Official Full Name regulatory factor X associated proteinprovided by HGNC Primary source HGNC:HGNC:9988 See related Ensembl:ENSG00000133111 MIM:601861; AllianceGenome:HGNC:9988 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 3.9), brain (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
RGCC, Official Symbol RGCCprovided by HGNC Official Full Name regulator of cell cycleprovided by HGNC Primary source HGNC:HGNC:20369 See related Ensembl:ENSG00000102760 MIM:610077; AllianceGenome:HGNC:20369 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RGC32; RGC-32; C13orf15; bA157L14.2 Summary This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 99.1), lung (RPKM 65.2) and 11 other tissues See more Orthologs mouse all
RGL1, Official Symbol RGL1provided by HGNC Official Full Name ral guanine nucleotide dissociation stimulator like 1provided by HGNC Primary source HGNC:HGNC:30281 See related Ensembl:ENSG00000143344 MIM:605667; AllianceGenome:HGNC:30281 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RGL Summary Predicted to be involved in regulation of catalytic activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 23.7), brain (RPKM 15.5) and 22 other tissues See more Orthologs mouse all
RGL2, Official Symbol RGL2provided by HGNC Official Full Name ral guanine nucleotide dissociation stimulator like 2provided by HGNC Primary source HGNC:HGNC:9769 See related Ensembl:ENSG00000237441 MIM:602306; AllianceGenome:HGNC:9769 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KE1.5; RAB2L; HKE1.5 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity and small GTPase mediated signal transduction. Predicted to act upstream of or within negative regulation of cardiac muscle cell apoptotic process; positive regulation of phosphatidylinositol 3-kinase signaling; and regulation of Ral protein signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 40.1), prostate (RPKM 26.5) and 25 other tissues See more Orthologs mouse all
RGL3, Official Symbol RGL3provided by HGNC Official Full Name ral guanine nucleotide dissociation stimulator like 3provided by HGNC Primary source HGNC:HGNC:30282 See related Ensembl:ENSG00000205517 MIM:616743; AllianceGenome:HGNC:30282 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in positive regulation of GTPase activity and small GTPase mediated signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 19.9), kidney (RPKM 13.4) and 17 other tissues See more Orthologs mouse all
RGL4, Official Symbol RGL4provided by HGNC Official Full Name ral guanine nucleotide dissociation stimulator like 4provided by HGNC Primary source HGNC:HGNC:31911 See related Ensembl:ENSG00000159496 MIM:612214; AllianceGenome:HGNC:31911 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Rgr Summary This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in bone marrow (RPKM 20.9), appendix (RPKM 6.7) and 23 other tissues See more Orthologs all
RGMA, Official Symbol RGMAprovided by HGNC Official Full Name repulsive guidance molecule BMP co-receptor aprovided by HGNC Primary source HGNC:HGNC:30308 See related Ensembl:ENSG00000182175 MIM:607362; AllianceGenome:HGNC:30308 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RGM Summary This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in brain (RPKM 32.8), endometrium (RPKM 14.6) and 13 other tissues See more Orthologs mouse all
RGMB, Official Symbol RGMBprovided by HGNC Official Full Name repulsive guidance molecule BMP co-receptor bprovided by HGNC Primary source HGNC:HGNC:26896 See related Ensembl:ENSG00000174136 MIM:612687; AllianceGenome:HGNC:26896 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DRAGON Summary RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009] Expression Ubiquitous expression in brain (RPKM 10.1), skin (RPKM 10.1) and 24 other tissues See more Orthologs mouse all
RGMB-AS1, Official Symbol RGMB-AS1provided by HGNC Official Full Name RGMB antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48666 See related Ensembl:ENSG00000246763 AllianceGenome:HGNC:48666 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 7.8), prostate (RPKM 1.7) and 8 other tissues See more
RGN, Official Symbol RGNprovided by HGNC Official Full Name regucalcinprovided by HGNC Primary source HGNC:HGNC:9989 See related Ensembl:ENSG00000130988 MIM:300212; AllianceGenome:HGNC:9989 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RC; GNL; SMP30; HEL-S-41 Summary The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Biased expression in liver (RPKM 68.0), adrenal (RPKM 65.2) and 11 other tissues See more Orthologs mouse all
RGP1, Official Symbol RGP1provided by HGNC Official Full Name RGP1 homolog, RAB6A GEF complex partner 1provided by HGNC Primary source HGNC:HGNC:21965 See related Ensembl:ENSG00000107185 MIM:615742; AllianceGenome:HGNC:21965 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIAA0258 Summary Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in negative regulation of cellular protein catabolic process; positive regulation of GTPase activity; and retrograde transport, endosome to Golgi. Located in cytosol and plasma membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 11.4), kidney (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
RGPD1, Official Symbol RGPD1provided by HGNC Official Full Name RANBP2 like and GRIP domain containing 1provided by HGNC Primary source HGNC:HGNC:32414 See related Ensembl:ENSG00000187627 MIM:612704; AllianceGenome:HGNC:32414 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RGP1; RGPD2; RanBP2L2; ranBP2L6 Summary Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 17.9), liver (RPKM 7.1) and 23 other tissues See more