psui3905/ncbi_genes_summary huggingface dataset:
RAB9A, Official Symbol RAB9Aprovided by HGNC Official Full Name RAB9A, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:9792 See related Ensembl:ENSG00000123595 MIM:300284; AllianceGenome:HGNC:9792 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 RAB9 Summary Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in negative regulation by host of symbiont catalytic activity; positive regulation of exocytosis; and regulation of protein localization. Located in late endosome; lysosome; and phagocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 21.5), bone marrow (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
RAB9AP1, Official Symbol RAB9AP1provided by HGNC Official Full Name RAB9A, member RAS oncogene family pseudogene 1provided by HGNC Primary source HGNC:HGNC:38104 See related Ensembl:ENSG00000232910 AllianceGenome:HGNC:38104 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB9AP2, Official Symbol RAB9AP2provided by HGNC Official Full Name RAB9A, member RAS oncogene family pseudogene 2provided by HGNC Primary source HGNC:HGNC:38106 See related Ensembl:ENSG00000223856 AllianceGenome:HGNC:38106 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB9AP3, Official Symbol RAB9AP3provided by HGNC Official Full Name RAB9A, member RAS oncogene family pseudogene 3provided by HGNC Primary source HGNC:HGNC:38107 See related Ensembl:ENSG00000223655 AllianceGenome:HGNC:38107 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB9AP5, Official Symbol RAB9AP5provided by HGNC Official Full Name RAB9A, member RAS oncogene family pseudogene 5provided by HGNC Primary source HGNC:HGNC:38109 See related Ensembl:ENSG00000231423 AllianceGenome:HGNC:38109 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAB9B, Official Symbol RAB9Bprovided by HGNC Official Full Name RAB9B, member RAS oncogene familyprovided by HGNC Primary source HGNC:HGNC:14090 See related Ensembl:ENSG00000123570 MIM:300285; AllianceGenome:HGNC:14090 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 RAB9L; Rab-9L Summary This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010] Expression Broad expression in heart (RPKM 9.1), brain (RPKM 5.8) and 15 other tissues See more Orthologs mouse all
RAB9BP1, Official Symbol RAB9BP1provided by HGNC Official Full Name RAB9B, member RAS oncogene family pseudogene 1provided by HGNC Primary source HGNC:HGNC:9793 See related Ensembl:ENSG00000232159 AllianceGenome:HGNC:9793 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RAB9P1
RABAC1, Official Symbol RABAC1provided by HGNC Official Full Name Rab acceptor 1provided by HGNC Primary source HGNC:HGNC:9794 See related Ensembl:ENSG00000105404 MIM:604925; AllianceGenome:HGNC:9794 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 PRA1; YIP3; PRAF1 Summary Enables identical protein binding activity. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 42.3), stomach (RPKM 42.2) and 25 other tissues See more Orthologs mouse all
RABEP1, Official Symbol RABEP1provided by HGNC Official Full Name rabaptin, RAB GTPase binding effector protein 1provided by HGNC Primary source HGNC:HGNC:17677 See related Ensembl:ENSG00000029725 MIM:603616; AllianceGenome:HGNC:17677 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 RAB5EP; RABPT5 Summary Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 23.0), prostate (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
RABEP2, Official Symbol RABEP2provided by HGNC Official Full Name rabaptin, RAB GTPase binding effector protein 2provided by HGNC Primary source HGNC:HGNC:24817 See related Ensembl:ENSG00000177548 MIM:611869; AllianceGenome:HGNC:24817 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 FRA Summary Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in cytosol; intracellular membrane-bounded organelle; and microtubule organizing center. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 13.2), spleen (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
RABEPK, Official Symbol RABEPKprovided by HGNC Official Full Name Rab9 effector protein with kelch motifsprovided by HGNC Primary source HGNC:HGNC:16896 See related Ensembl:ENSG00000136933 MIM:605962; AllianceGenome:HGNC:16896 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 p40; RAB9P40; bA65N13.1 Summary Predicted to be involved in receptor-mediated endocytosis and vesicle docking involved in exocytosis. Predicted to be located in cytoplasmic vesicle; cytosol; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 12.3), testis (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
RABEPKP1, Official Symbol RABEPKP1provided by HGNC Official Full Name Rab9 effector protein with kelch motifs pseudogene 1provided by HGNC Primary source HGNC:HGNC:39791 See related Ensembl:ENSG00000225801 AllianceGenome:HGNC:39791 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RABGAP1, Official Symbol RABGAP1provided by HGNC Official Full Name RAB GTPase activating protein 1provided by HGNC Primary source HGNC:HGNC:17155 See related Ensembl:ENSG00000011454 MIM:615882; AllianceGenome:HGNC:17155 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 GAPCENA; TBC1D11 Summary Enables GTPase activator activity and small GTPase binding activity. Involved in regulation of GTPase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 21.8), brain (RPKM 18.2) and 25 other tissues See more Orthologs mouse all
RABGAP1L, Official Symbol RABGAP1Lprovided by HGNC Official Full Name RAB GTPase activating protein 1 likeprovided by HGNC Primary source HGNC:HGNC:24663 See related Ensembl:ENSG00000152061 MIM:609238; AllianceGenome:HGNC:24663 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 HHL; TBC1D18 Summary Enables GTPase activator activity and small GTPase binding activity. Acts upstream of or within regulation of protein localization. Located in Golgi apparatus; early endosome; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 7.5), brain (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
RABGAP1L-AS1, Official Symbol RABGAP1L-AS1provided by HGNC Official Full Name RABGAP1L antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41057 See related Ensembl:ENSG00000229531 AllianceGenome:HGNC:41057 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 Low expression observed in reference dataset See more
RABGAP1L-DT, Official Symbol RABGAP1L-DTprovided by HGNC Official Full Name RABGAP1L divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54296 See related Ensembl:ENSG00000227373 AllianceGenome:HGNC:54296 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 Low expression observed in reference dataset See more
RABGAP1L-IT1, Official Symbol RABGAP1L-IT1provided by HGNC Official Full Name RABGAP1L intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41471 See related AllianceGenome:HGNC:41471 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
RABGEF1, Official Symbol RABGEF1provided by HGNC Official Full Name RAB guanine nucleotide exchange factor 1provided by HGNC Primary source HGNC:HGNC:17676 See related Ensembl:ENSG00000154710 MIM:609700; AllianceGenome:HGNC:17676 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 RAP1; RABEX5; rabex-5 Summary RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010] Expression Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
RABGGTA, Official Symbol RABGGTAprovided by HGNC Official Full Name Rab geranylgeranyltransferase subunit alphaprovided by HGNC Primary source HGNC:HGNC:9795 See related Ensembl:ENSG00000100949 MIM:601905; AllianceGenome:HGNC:9795 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 PTAR3 Summary Predicted to enable small GTPase binding activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Predicted to be involved in protein geranylgeranylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 19.5), lung (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
RABGGTB, Official Symbol RABGGTBprovided by HGNC Official Full Name Rab geranylgeranyltransferase subunit betaprovided by HGNC Primary source HGNC:HGNC:9796 See related Ensembl:ENSG00000137955 MIM:179080; AllianceGenome:HGNC:9796 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 GGTB Summary This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in adrenal (RPKM 28.6), kidney (RPKM 27.1) and 25 other tissues See more Orthologs mouse all
RABIF, Official Symbol RABIFprovided by HGNC Official Full Name RAB interacting factorprovided by HGNC Primary source HGNC:HGNC:9797 See related Ensembl:ENSG00000183155 MIM:603417; AllianceGenome:HGNC:9797 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 MSS4; RASGFR3; RASGRF3 Summary This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011] Expression Broad expression in testis (RPKM 8.2), brain (RPKM 4.5) and 24 other tissues See more Orthologs mouse all
RABL2A, Official Symbol RABL2Aprovided by HGNC Official Full Name RAB, member of RAS oncogene family like 2Aprovided by HGNC Primary source HGNC:HGNC:9799 See related Ensembl:ENSG00000144134 MIM:605412; AllianceGenome:HGNC:9799 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 RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in testis (RPKM 5.1), lung (RPKM 4.1) and 25 other tissues See more Orthologs all
RABL2B, Official Symbol RABL2Bprovided by HGNC Official Full Name RAB, member of RAS oncogene family like 2Bprovided by HGNC Primary source HGNC:HGNC:9800 See related Ensembl:ENSG00000079974 MIM:605413; AllianceGenome:HGNC:9800 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 The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in testis (RPKM 7.7), lung (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
RABL3, Official Symbol RABL3provided by HGNC Official Full Name RAB, member of RAS oncogene family like 3provided by HGNC Primary source HGNC:HGNC:18072 See related Ensembl:ENSG00000144840 MIM:618542; AllianceGenome:HGNC:18072 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 PNCA5 Summary Predicted to enable GTP binding activity; GTPase activity; and protein homodimerization activity. Involved in regulation of Ras protein signal transduction and regulation of protein lipidation. Predicted to be active in endomembrane system. Implicated in pancreatic cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 12.2), adrenal (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
RABL6, Official Symbol RABL6provided by HGNC Official Full Name RAB, member RAS oncogene family like 6provided by HGNC Primary source HGNC:HGNC:24703 See related Ensembl:ENSG00000196642 MIM:610615; AllianceGenome:HGNC:24703 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 PARF; RBEL1; pp8875; C9orf86 Summary This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in colon (RPKM 19.6), prostate (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
RAC1, Official Symbol RAC1provided by HGNC Official Full Name Rac family small GTPase 1provided by HGNC Primary source HGNC:HGNC:9801 See related Ensembl:ENSG00000136238 MIM:602048; AllianceGenome:HGNC:9801 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 MIG5; MRD48; Rac-1; TC-25; p21-Rac1 Summary The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in esophagus (RPKM 113.8), brain (RPKM 110.4) and 25 other tissues See more Orthologs mouse all
RAC1P3, Official Symbol RAC1P3provided by HGNC Official Full Name Rac family small GTPase 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:31833 See related AllianceGenome:HGNC:31833 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Psi3Rac1
RAC1P5, Official Symbol RAC1P5provided by HGNC Official Full Name Rac family small GTPase 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:30593 See related AllianceGenome:HGNC:30593 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Psi1Rac1 Summary This locus encodes one of the pseudogenes of the functional ras-related C3 botulinum toxin substrate 1 gene (RAC1, GeneID:5879) located on chr 7. It is intronless, shares overall 93% sequence identity with the RAC1 gene, and has enough differences in the coding region so as not to be able to code for a functional protein. There is no evidence of transcription at this pseudogene locus on chr 4. [provided by RefSeq, Jul 2008]
RAC1P7, Official Symbol RAC1P7provided by HGNC Official Full Name Rac family small GTPase 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:42007 See related Ensembl:ENSG00000236101 AllianceGenome:HGNC:42007 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAC1P8, Official Symbol RAC1P8provided by HGNC Official Full Name Rac family small GTPase 1 pseudogene 8provided by HGNC Primary source HGNC:HGNC:42005 See related Ensembl:ENSG00000234033 AllianceGenome:HGNC:42005 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAC1P9, Official Symbol RAC1P9provided by HGNC Official Full Name Rac family small GTPase 1 pseudogene 9provided by HGNC Primary source HGNC:HGNC:50774 See related Ensembl:ENSG00000271306 AllianceGenome:HGNC:50774 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAC2, Official Symbol RAC2provided by HGNC Official Full Name Rac family small GTPase 2provided by HGNC Primary source HGNC:HGNC:9802 See related Ensembl:ENSG00000128340 MIM:602049; AllianceGenome:HGNC:9802 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 Gx; EN-7; IMD73A; IMD73B; IMD73C; HSPC022; p21-Rac2 Summary This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013] Expression Biased expression in lymph node (RPKM 157.7), bone marrow (RPKM 130.6) and 9 other tissues See more Orthologs mouse all
RAC3, Official Symbol RAC3provided by HGNC Official Full Name Rac family small GTPase 3provided by HGNC Primary source HGNC:HGNC:9803 See related Ensembl:ENSG00000169750 MIM:602050; AllianceGenome:HGNC:9803 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 The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Annotation information Note: RAC3 (Gene ID: 5881) and NCOA3 (Gene ID: 8202) share the RAC3 symbol/alias in common. RAC3 is a widely used alternative name for nuclear receptor coactivator 3 (NCOA3), which can be confused with the official symbol for ras-related C3 botulinum toxin substrate 3 (RAC3). [06 Jul 2018] Expression Broad expression in testis (RPKM 10.2), brain (RPKM 6.3) and 22 other tissues See more Orthologs mouse all
RACGAP1, Official Symbol RACGAP1provided by HGNC Official Full Name Rac GTPase activating protein 1provided by HGNC Primary source HGNC:HGNC:9804 See related Ensembl:ENSG00000161800 MIM:604980; AllianceGenome:HGNC:9804 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 CYK4; CDAN3B; ID-GAP; HsCYK-4; MgcRacGAP Summary This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 17.3), bone marrow (RPKM 8.3) and 20 other tissues See more Orthologs mouse all
RACK1, Official Symbol RACK1provided by HGNC Official Full Name receptor for activated C kinase 1provided by HGNC Primary source HGNC:HGNC:4399 See related Ensembl:ENSG00000204628 MIM:176981; AllianceGenome:HGNC:4399 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 H12.3; HLC-7; PIG21; GNB2L1; Gnb2-rs1 Summary Enables several functions, including cyclin binding activity; enzyme binding activity; and protein domain specific binding activity. Involved in several processes, including positive regulation of hydrolase activity; regulation of cellular protein metabolic process; and regulation of signal transduction. Located in several cellular components, including midbody; perinuclear region of cytoplasm; and phagocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 1262.3), lymph node (RPKM 598.8) and 25 other tissues See more Orthologs mouse all
RAD1, Official Symbol RAD1provided by HGNC Official Full Name RAD1 checkpoint DNA exonucleaseprovided by HGNC Primary source HGNC:HGNC:9806 See related Ensembl:ENSG00000113456 MIM:603153; AllianceGenome:HGNC:9806 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 REC1; HRAD1 Summary This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in testis (RPKM 6.2), adrenal (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
RAD17, Official Symbol RAD17provided by HGNC Official Full Name RAD17 checkpoint clamp loader componentprovided by HGNC Primary source HGNC:HGNC:9807 See related Ensembl:ENSG00000152942 MIM:603139; AllianceGenome:HGNC:9807 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 CCYC; R24L; RAD24; HRAD17; RAD17SP Summary The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013] Expression Broad expression in testis (RPKM 28.4), lymph node (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
RAD17P1, Official Symbol RAD17P1provided by HGNC Official Full Name RAD17 pseudogene 1provided by HGNC Primary source HGNC:HGNC:9808 See related Ensembl:ENSG00000232400 AllianceGenome:HGNC:9808 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HRAD17P1
RAD18, Official Symbol RAD18provided by HGNC Official Full Name RAD18 E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:18278 See related Ensembl:ENSG00000070950 MIM:605256; AllianceGenome:HGNC:18278 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 RNF73 Summary The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 3.3), lymph node (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
RAD21, Official Symbol RAD21provided by HGNC Official Full Name RAD21 cohesin complex componentprovided by HGNC Primary source HGNC:HGNC:9811 See related Ensembl:ENSG00000164754 MIM:606462; AllianceGenome:HGNC:9811 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 MGS; HR21; MCD1; NXP1; SCC1; CDLS4; hHR21; HRAD21 Summary The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 65.1), lymph node (RPKM 64.2) and 25 other tissues See more Orthologs mouse all
RAD21-AS1, Official Symbol RAD21-AS1provided by HGNC Official Full Name RAD21 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:32158 See related Ensembl:ENSG00000253327 AllianceGenome:HGNC:32158 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 C8orf81; NCRNA00255 Expression Low expression observed in reference dataset See more
RAD21L1, Official Symbol RAD21L1provided by HGNC Official Full Name RAD21 cohesin complex component like 1provided by HGNC Primary source HGNC:HGNC:16271 See related Ensembl:ENSG00000244588 MIM:619533; AllianceGenome:HGNC:16271 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 RAD21L; dJ545L17.2 Summary Predicted to enable chromatin binding activity. Predicted to be involved in mitotic sister chromatid cohesion; replication-born double-strand break repair via sister chromatid exchange; and synaptonemal complex assembly. Predicted to act upstream of or within several processes, including double-strand break repair via homologous recombination; homologous chromosome segregation; and seminiferous tubule development. Predicted to be located in lateral element. Predicted to be part of nuclear meiotic cohesin complex and nuclear mitotic cohesin complex. Predicted to be active in synaptonemal complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 3.3) See more Orthologs mouse all
RAD21P1, Official Symbol RAD21P1provided by HGNC Official Full Name RAD21 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55032 See related Ensembl:ENSG00000238116 AllianceGenome:HGNC:55032 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAD23A, Official Symbol RAD23Aprovided by HGNC Official Full Name RAD23 homolog A, nucleotide excision repair proteinprovided by HGNC Primary source HGNC:HGNC:9812 See related Ensembl:ENSG00000179262 MIM:600061; AllianceGenome:HGNC:9812 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 HR23A; HHR23A Summary The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in fat (RPKM 50.3), heart (RPKM 47.4) and 25 other tissues See more Orthologs mouse all
RAD23B, Official Symbol RAD23Bprovided by HGNC Official Full Name RAD23 homolog B, nucleotide excision repair proteinprovided by HGNC Primary source HGNC:HGNC:9813 See related Ensembl:ENSG00000119318 MIM:600062; AllianceGenome:HGNC:9813 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 P58; HR23B; HHR23B Summary The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in liver (RPKM 44.7), fat (RPKM 43.3) and 25 other tissues See more Orthologs mouse all
RAD23BP1, Official Symbol RAD23BP1provided by HGNC Official Full Name RAD23B pseudogene 1provided by HGNC Primary source HGNC:HGNC:44509 See related Ensembl:ENSG00000236570 AllianceGenome:HGNC:44509 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RAD23BP3, Official Symbol RAD23BP3provided by HGNC Official Full Name RAD23B pseudogene 3provided by HGNC Primary source HGNC:HGNC:9814 See related Ensembl:ENSG00000226298 AllianceGenome:HGNC:9814 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RAD23BLP
RAD50, Official Symbol RAD50provided by HGNC Official Full Name RAD50 double strand break repair proteinprovided by HGNC Primary source HGNC:HGNC:9816 See related Ensembl:ENSG00000113522 MIM:604040; AllianceGenome:HGNC:9816 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 NBSLD; RAD502; hRad50 Summary The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010] Expression Ubiquitous expression in testis (RPKM 10.5), thyroid (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
RAD51, Official Symbol RAD51provided by HGNC Official Full Name RAD51 recombinaseprovided by HGNC Primary source HGNC:HGNC:9817 See related Ensembl:ENSG00000051180 MIM:179617; AllianceGenome:HGNC:9817 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 RECA; BRCC5; FANCR; MRMV2; HRAD51; RAD51A; HsRad51; HsT16930 Summary The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Expression Biased expression in testis (RPKM 6.6), bone marrow (RPKM 3.5) and 13 other tissues See more Orthologs mouse all
RAD51-AS1, Official Symbol RAD51-AS1provided by HGNC Official Full Name RAD51 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48621 See related Ensembl:ENSG00000245849 AllianceGenome:HGNC:48621 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 TODRA Expression Ubiquitous expression in thyroid (RPKM 4.6), prostate (RPKM 4.6) and 25 other tissues See more
RAD51AP1, Official Symbol RAD51AP1provided by HGNC Official Full Name RAD51 associated protein 1provided by HGNC Primary source HGNC:HGNC:16956 See related Ensembl:ENSG00000111247 MIM:603070; AllianceGenome:HGNC:16956 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 PIR51 Summary Enables nucleic acid binding activity. Involved in DNA repair; cellular response to ionizing radiation; and positive regulation of DNA recombination. Located in chromatin and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 9.3), testis (RPKM 6.1) and 20 other tissues See more Orthologs mouse all
RAD51AP2, Official Symbol RAD51AP2provided by HGNC Official Full Name RAD51 associated protein 2provided by HGNC Primary source HGNC:HGNC:34417 See related Ensembl:ENSG00000214842 AllianceGenome:HGNC:34417 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 double-stranded DNA binding activity and single-stranded DNA binding activity. Predicted to be involved in double-strand break repair via homologous recombination and interstrand cross-link repair. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 5.9) See more Orthologs mouse all
RAD51B, Official Symbol RAD51Bprovided by HGNC Official Full Name RAD51 paralog Bprovided by HGNC Primary source HGNC:HGNC:9822 See related Ensembl:ENSG00000182185 MIM:602948; AllianceGenome:HGNC:9822 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 REC2; R51H2; RAD51L1 Summary The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
RAD51C, Official Symbol RAD51Cprovided by HGNC Official Full Name RAD51 paralog Cprovided by HGNC Primary source HGNC:HGNC:9820 See related Ensembl:ENSG00000108384 MIM:602774; AllianceGenome:HGNC:9820 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 FANCO; R51H3; BROVCA3; RAD51L2 Summary This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in testis (RPKM 9.7), brain (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
RAD51D, Official Symbol RAD51Dprovided by HGNC Official Full Name RAD51 paralog Dprovided by HGNC Primary source HGNC:HGNC:9823 See related Ensembl:ENSG00000185379 MIM:602954; AllianceGenome:HGNC:9823 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 TRAD; R51H3; BROVCA4; RAD51L3 Summary The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
RAD52, Official Symbol RAD52provided by HGNC Official Full Name RAD52 homolog, DNA repair proteinprovided by HGNC Primary source HGNC:HGNC:9824 See related Ensembl:ENSG00000002016 MIM:600392; AllianceGenome:HGNC:9824 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 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in fat (RPKM 4.4), skin (RPKM 4.2) and 25 other tissues See more Orthologs mouse all