psui3905/ncbi_genes_summary huggingface dataset:
RASD1, Official Symbol RASD1provided by HGNC Official Full Name ras related dexamethasone induced 1provided by HGNC Primary source HGNC:HGNC:15828 See related Ensembl:ENSG00000108551 MIM:605550; AllianceGenome:HGNC:15828 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 AGS1; DEXRAS1; MGC:26290 Summary This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011] Expression Broad expression in fat (RPKM 57.3), kidney (RPKM 34.9) and 16 other tissues See more Orthologs mouse all
RASD2, Official Symbol RASD2provided by HGNC Official Full Name RASD family member 2provided by HGNC Primary source HGNC:HGNC:18229 See related Ensembl:ENSG00000100302 MIM:612842; AllianceGenome:HGNC:18229 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 Rhes; TEM2 Summary This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016] Expression Broad expression in prostate (RPKM 3.2), brain (RPKM 2.7) and 18 other tissues See more Orthologs mouse all
RASEF, Official Symbol RASEFprovided by HGNC Official Full Name RAS and EF-hand domain containingprovided by HGNC Primary source HGNC:HGNC:26464 See related Ensembl:ENSG00000165105 MIM:611344; AllianceGenome:HGNC:26464 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 TSG; RAB45 Summary This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012] Expression Broad expression in stomach (RPKM 15.4), thyroid (RPKM 14.0) and 15 other tissues See more Orthologs mouse all
RASGEF1A, Official Symbol RASGEF1Aprovided by HGNC Official Full Name RasGEF domain family member 1Aprovided by HGNC Primary source HGNC:HGNC:24246 See related Ensembl:ENSG00000198915 MIM:614531; AllianceGenome:HGNC:24246 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 CG4853 Summary Enables guanyl-nucleotide exchange factor activity. Involved in cell migration and positive regulation of Ras protein signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 7.0), bone marrow (RPKM 2.1) and 17 other tissues See more Orthologs mouse all
RASGEF1B, Official Symbol RASGEF1Bprovided by HGNC Official Full Name RasGEF domain family member 1Bprovided by HGNC Primary source HGNC:HGNC:24881 See related Ensembl:ENSG00000138670 MIM:614532; AllianceGenome:HGNC:24881 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 GPIG4 Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity and small GTPase mediated signal transduction. Predicted to be located in early endosome; late endosome; and midbody. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 8.3) and 24 other tissues See more Orthologs mouse all
RASGEF1C, Official Symbol RASGEF1Cprovided by HGNC Official Full Name RasGEF domain family member 1Cprovided by HGNC Primary source HGNC:HGNC:27400 See related Ensembl:ENSG00000146090 AllianceGenome:HGNC:27400 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. Predicted to be involved in regulation of catalytic activity and small GTPase mediated signal transduction. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.2), testis (RPKM 3.8) and 2 other tissues See more Orthologs mouse all
RASGRF1, Official Symbol RASGRF1provided by HGNC Official Full Name Ras protein specific guanine nucleotide releasing factor 1provided by HGNC Primary source HGNC:HGNC:9875 See related Ensembl:ENSG00000058335 MIM:606600; AllianceGenome:HGNC:9875 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 GNRP; GRF1; CDC25; GRF55; CDC25L; H-GRF55; PP13187; ras-GRF1 Summary The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009] Expression Biased expression in brain (RPKM 10.4) and lung (RPKM 4.4) See more Orthologs mouse all
RASGRF2, Official Symbol RASGRF2provided by HGNC Official Full Name Ras protein specific guanine nucleotide releasing factor 2provided by HGNC Primary source HGNC:HGNC:9876 See related Ensembl:ENSG00000113319 MIM:606614; AllianceGenome:HGNC:9876 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 GRF2; RAS-GRF2 Summary RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011] Expression Broad expression in brain (RPKM 9.6), ovary (RPKM 7.2) and 18 other tissues See more Orthologs mouse all
RASGRF2-AS1, Official Symbol RASGRF2-AS1provided by HGNC Official Full Name RASGRF2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40499 See related Ensembl:ENSG00000251450 AllianceGenome:HGNC:40499 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 fat (RPKM 1.5), brain (RPKM 1.1) and 12 other tissues See more
RASGRP1, Official Symbol RASGRP1provided by HGNC Official Full Name RAS guanyl releasing protein 1provided by HGNC Primary source HGNC:HGNC:9878 See related Ensembl:ENSG00000172575 MIM:603962; AllianceGenome:HGNC:9878 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 IMD64; RASGRP; CALDAG-GEFI; CALDAG-GEFII Summary This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 12.0), brain (RPKM 10.5) and 15 other tissues See more Orthologs mouse all
RASGRP2, Official Symbol RASGRP2provided by HGNC Official Full Name RAS guanyl releasing protein 2provided by HGNC Primary source HGNC:HGNC:9879 See related Ensembl:ENSG00000068831 MIM:605577; AllianceGenome:HGNC:9879 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 CDC25L; CALDAG-GEFI Summary The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] Expression Broad expression in bone marrow (RPKM 28.4), lymph node (RPKM 27.5) and 17 other tissues See more Orthologs mouse all
RASGRP3, Official Symbol RASGRP3provided by HGNC Official Full Name RAS guanyl releasing protein 3provided by HGNC Primary source HGNC:HGNC:14545 See related Ensembl:ENSG00000152689 MIM:609531; AllianceGenome:HGNC:14545 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 GRP3 Summary The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017] Expression Broad expression in lymph node (RPKM 8.7), appendix (RPKM 6.4) and 22 other tissues See more Orthologs mouse all
RASGRP3-AS1, Official Symbol RASGRP3-AS1provided by HGNC Official Full Name RASGRP3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40689 See related Ensembl:ENSG00000119812 AllianceGenome:HGNC:40689 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 Broad expression in appendix (RPKM 2.4), spleen (RPKM 1.7) and 22 other tissues See more
RASGRP4, Official Symbol RASGRP4provided by HGNC Official Full Name RAS guanyl releasing protein 4provided by HGNC Primary source HGNC:HGNC:18958 See related Ensembl:ENSG00000171777 MIM:607320; AllianceGenome:HGNC:18958 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 member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] Expression Biased expression in bone marrow (RPKM 11.0), appendix (RPKM 5.5) and 13 other tissues See more Orthologs mouse all
RASIP1, Official Symbol RASIP1provided by HGNC Official Full Name Ras interacting protein 1provided by HGNC Primary source HGNC:HGNC:24716 See related Ensembl:ENSG00000105538 MIM:609623; AllianceGenome:HGNC:24716 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 RAIN Summary Enables GTPase binding activity and protein homodimerization activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and positive regulation of integrin activation. Located in cell-cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 11.9), spleen (RPKM 8.9) and 23 other tissues See more Orthologs mouse all
RASL10A, Official Symbol RASL10Aprovided by HGNC Official Full Name RAS like family 10 member Aprovided by HGNC Primary source HGNC:HGNC:16954 See related Ensembl:ENSG00000100276 MIM:602220; AllianceGenome:HGNC:16954 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 RRP22 Summary Predicted to enable GTPase activity. Predicted to be involved in small GTPase mediated signal transduction. Predicted to be located in nucleolus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.1) and testis (RPKM 0.5) See more Orthologs mouse all
RASL10B, Official Symbol RASL10Bprovided by HGNC Official Full Name RAS like family 10 member Bprovided by HGNC Primary source HGNC:HGNC:30295 See related Ensembl:ENSG00000270885 MIM:612128; AllianceGenome:HGNC:30295 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 RRP17; VTS58635 Summary Predicted to enable G protein activity and GTP binding activity. Predicted to be involved in positive regulation of peptide hormone secretion and regulation of systemic arterial blood pressure by atrial natriuretic peptide. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 7.3), heart (RPKM 2.8) and 8 other tissues See more Orthologs mouse all
RASL11A, Official Symbol RASL11Aprovided by HGNC Official Full Name RAS like family 11 member Aprovided by HGNC Primary source HGNC:HGNC:23802 See related Ensembl:ENSG00000122035 MIM:612403; AllianceGenome:HGNC:23802 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 G protein activity and GTP binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase I. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 15.1), colon (RPKM 11.1) and 24 other tissues See more Orthologs mouse all
RASL11B, Official Symbol RASL11Bprovided by HGNC Official Full Name RAS like family 11 member Bprovided by HGNC Primary source HGNC:HGNC:23804 See related Ensembl:ENSG00000128045 MIM:612404; AllianceGenome:HGNC:23804 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 G protein activity; GTP binding activity; and transforming growth factor beta receptor binding activity. Predicted to act upstream of or within negative regulation of transforming growth factor beta receptor signaling pathway. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in ovary (RPKM 17.0), heart (RPKM 11.4) and 12 other tissues See more Orthologs mouse all
RASL12, Official Symbol RASL12provided by HGNC Official Full Name RAS like family 12provided by HGNC Primary source HGNC:HGNC:30289 See related Ensembl:ENSG00000103710 AllianceGenome:HGNC:30289 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 RIS Summary Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be involved in signal transduction. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 19.4), endometrium (RPKM 17.1) and 21 other tissues See more Orthologs mouse all
RASSF1, Official Symbol RASSF1provided by HGNC Official Full Name Ras association domain family member 1provided by HGNC Primary source HGNC:HGNC:9882 See related Ensembl:ENSG00000068028 MIM:605082; AllianceGenome:HGNC:9882 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 123F2; RDA32; NORE2A; RASSF1A; REH3P21 Summary This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011] Expression Ubiquitous expression in bone marrow (RPKM 19.8), spleen (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
RASSF1-AS1, Official Symbol RASSF1-AS1provided by HGNC Official Full Name RASSF1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49091 See related Ensembl:ENSG00000281358 AllianceGenome:HGNC:49091 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 ANRASSF1
RASSF10, Official Symbol RASSF10provided by HGNC Official Full Name Ras association domain family member 10provided by HGNC Primary source HGNC:HGNC:33984 See related Ensembl:ENSG00000189431 MIM:614713; AllianceGenome:HGNC:33984 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 be involved in positive regulation of neural precursor cell proliferation and positive regulation of neurogenesis. Predicted to be located in cytosol; microtubule organizing center; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
RASSF10-DT, Official Symbol RASSF10-DTprovided by HGNC Official Full Name RASSF10 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54255 See related AllianceGenome:HGNC:54255 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 LINC02738 Expression Low expression observed in reference dataset See more
RASSF2, Official Symbol RASSF2provided by HGNC Official Full Name Ras association domain family member 2provided by HGNC Primary source HGNC:HGNC:9883 See related Ensembl:ENSG00000101265 MIM:609492; AllianceGenome:HGNC:9883 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 CENP-34; RASFADIN Summary This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 57.7), bone marrow (RPKM 38.0) and 16 other tissues See more Orthologs mouse all
RASSF3, Official Symbol RASSF3provided by HGNC Official Full Name Ras association domain family member 3provided by HGNC Primary source HGNC:HGNC:14271 See related Ensembl:ENSG00000153179 MIM:607019; AllianceGenome:HGNC:14271 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 RASSF5 Summary The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003] Expression Ubiquitous expression in spleen (RPKM 26.7), appendix (RPKM 26.2) and 25 other tissues See more Orthologs mouse all
RASSF4, Official Symbol RASSF4provided by HGNC Official Full Name Ras association domain family member 4provided by HGNC Primary source HGNC:HGNC:20793 See related Ensembl:ENSG00000107551 MIM:610559; AllianceGenome:HGNC:20793 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 AD037 Summary The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 36.2), fat (RPKM 31.7) and 25 other tissues See more Orthologs mouse all
RASSF5, Official Symbol RASSF5provided by HGNC Official Full Name Ras association domain family member 5provided by HGNC Primary source HGNC:HGNC:17609 See related Ensembl:ENSG00000266094 MIM:607020; AllianceGenome:HGNC:17609 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 RAPL; Maxp1; NORE1; NORE1A; NORE1B; RASSF3 Summary This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 44.1), lymph node (RPKM 34.6) and 20 other tissues See more Orthologs mouse all
RASSF6, Official Symbol RASSF6provided by HGNC Official Full Name Ras association domain family member 6provided by HGNC Primary source HGNC:HGNC:20796 See related Ensembl:ENSG00000169435 MIM:612620; AllianceGenome:HGNC:20796 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 encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] Expression Broad expression in stomach (RPKM 5.6), colon (RPKM 3.3) and 15 other tissues See more Orthologs mouse all
RASSF7, Official Symbol RASSF7provided by HGNC Official Full Name Ras association domain family member 7provided by HGNC Primary source HGNC:HGNC:1166 See related Ensembl:ENSG00000099849 MIM:143023; AllianceGenome:HGNC:1166 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 HRC1; FAP88; HRAS1; CFAP88; C11orf13 Summary Predicted to be involved in apoptotic process; regulation of microtubule cytoskeleton organization; and signal transduction. Located in centriolar satellite. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 14.8), colon (RPKM 12.6) and 23 other tissues See more Orthologs mouse all
RASSF8, Official Symbol RASSF8provided by HGNC Official Full Name Ras association domain family member 8provided by HGNC Primary source HGNC:HGNC:13232 See related Ensembl:ENSG00000123094 MIM:608231; AllianceGenome:HGNC:13232 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 HOJ1; C12orf2 Summary This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Expression Broad expression in testis (RPKM 13.9), endometrium (RPKM 13.0) and 23 other tissues See more Orthologs mouse all
RASSF8-AS1, Official Symbol RASSF8-AS1provided by HGNC Official Full Name RASSF8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48637 See related AllianceGenome:HGNC:48637 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 Broad expression in kidney (RPKM 4.7), testis (RPKM 3.1) and 20 other tissues See more
RASSF9, Official Symbol RASSF9provided by HGNC Official Full Name Ras association domain family member 9provided by HGNC Primary source HGNC:HGNC:15739 See related Ensembl:ENSG00000198774 MIM:610383; AllianceGenome:HGNC:15739 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 PAMCI; PCIP1; P-CIP1 Summary The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 3.5), esophagus (RPKM 3.2) and 23 other tissues See more Orthologs mouse all
RAVER1, Official Symbol RAVER1provided by HGNC Official Full Name ribonucleoprotein, PTB binding 1provided by HGNC Primary source HGNC:HGNC:30296 See related Ensembl:ENSG00000161847 MIM:609950; AllianceGenome:HGNC:30296 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 Enables RNA binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] 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 Ubiquitous expression in spleen (RPKM 11.2), bone marrow (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
RAVER2, Official Symbol RAVER2provided by HGNC Official Full Name ribonucleoprotein, PTB binding 2provided by HGNC Primary source HGNC:HGNC:25577 See related Ensembl:ENSG00000162437 MIM:609953; AllianceGenome:HGNC:25577 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 Enables RNA binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in small intestine (RPKM 13.3), colon (RPKM 12.9) and 24 other tissues See more Orthologs mouse all
RAX, Official Symbol RAXprovided by HGNC Official Full Name retina and anterior neural fold homeoboxprovided by HGNC Primary source HGNC:HGNC:18662 See related Ensembl:ENSG00000134438 MIM:601881; AllianceGenome:HGNC:18662 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 RX; RAX1; MCOP3; MCOPS16 Summary This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
RAX2, Official Symbol RAX2provided by HGNC Official Full Name retina and anterior neural fold homeobox 2provided by HGNC Primary source HGNC:HGNC:18286 See related Ensembl:ENSG00000173976 MIM:610362; AllianceGenome:HGNC:18286 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 QRX; RP95; ARMD6; RAXL1; CORD11 Summary This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Low expression observed in reference dataset See more Orthologs all
RB1, Official Symbol RB1provided by HGNC Official Full Name RB transcriptional corepressor 1provided by HGNC Primary source HGNC:HGNC:9884 See related Ensembl:ENSG00000139687 MIM:614041; AllianceGenome:HGNC:9884 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 RB; pRb; OSRC; pp110; p105-Rb; PPP1R130; p110-RB1 Summary The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 18.0), thyroid (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
RB1-DT, Official Symbol RB1-DTprovided by HGNC Official Full Name RB1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:42778 See related Ensembl:ENSG00000231473 AllianceGenome:HGNC:42778 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 LINC00441; ncRNA-RB1 Expression Biased expression in testis (RPKM 1.9), thyroid (RPKM 0.3) and 5 other tissues See more
RB1CC1, Official Symbol RB1CC1provided by HGNC Official Full Name RB1 inducible coiled-coil 1provided by HGNC Primary source HGNC:HGNC:15574 See related Ensembl:ENSG00000023287 MIM:606837; AllianceGenome:HGNC:15574 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 CC1; ATG17; FIP200; PPP1R131 Summary The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in testis (RPKM 14.7), brain (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
RBAK, Official Symbol RBAKprovided by HGNC Official Full Name RB associated KRAB zinc fingerprovided by HGNC Primary source HGNC:HGNC:17680 See related Ensembl:ENSG00000146587 MIM:608191; AllianceGenome:HGNC:17680 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 ZNF769 Summary This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in thyroid (RPKM 4.0), lymph node (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
RBAK-RBAKDN, Official Symbol RBAK-RBAKDNprovided by HGNC Official Full Name RBAK-RBAKDN readthroughprovided by HGNC Primary source HGNC:HGNC:42971 See related Ensembl:ENSG00000272968 AllianceGenome:HGNC:42971 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 RBAK; hRBaK; ZNF769; RBAK-LOC389458 Summary This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011] Expression Biased expression in testis (RPKM 37.8) and appendix (RPKM 1.0) See more Orthologs all
RBAKDN, Official Symbol RBAKDNprovided by HGNC Official Full Name RBAK downstream neighborprovided by HGNC Primary source HGNC:HGNC:33770 See related Ensembl:ENSG00000273313 AllianceGenome:HGNC:33770 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 Restricted expression toward testis (RPKM 57.5) See more
RBBP4, Official Symbol RBBP4provided by HGNC Official Full Name RB binding protein 4, chromatin remodeling factorprovided by HGNC Primary source HGNC:HGNC:9887 See related Ensembl:ENSG00000162521 MIM:602923; AllianceGenome:HGNC:9887 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 NURF55; RBAP48; lin-53 Summary This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in testis (RPKM 27.2), lymph node (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
RBBP4P2, Official Symbol RBBP4P2provided by HGNC Official Full Name RBBP4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42369 See related Ensembl:ENSG00000242457 AllianceGenome:HGNC:42369 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RBBP4P3, Official Symbol RBBP4P3provided by HGNC Official Full Name RBBP4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:42370 See related Ensembl:ENSG00000276290 AllianceGenome:HGNC:42370 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RBBP4P4, Official Symbol RBBP4P4provided by HGNC Official Full Name RBBP4 pseudogene 4provided by HGNC Primary source HGNC:HGNC:42371 See related Ensembl:ENSG00000214561 AllianceGenome:HGNC:42371 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RBBP5, Official Symbol RBBP5provided by HGNC Official Full Name RB binding protein 5, histone lysine methyltransferase complex subunitprovided by HGNC Primary source HGNC:HGNC:9888 See related Ensembl:ENSG00000117222 MIM:600697; AllianceGenome:HGNC:9888 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 RBQ3; SWD1 Summary This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in thyroid (RPKM 6.5), lymph node (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
RBBP6, Official Symbol RBBP6provided by HGNC Official Full Name RB binding protein 6, ubiquitin ligaseprovided by HGNC Primary source HGNC:HGNC:9889 See related Ensembl:ENSG00000122257 MIM:600938; AllianceGenome:HGNC:9889 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 PACT; MY038; P2P-R; RBQ-1; SNAMA Summary The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
RBBP7, Official Symbol RBBP7provided by HGNC Official Full Name RB binding protein 7, chromatin remodeling factorprovided by HGNC Primary source HGNC:HGNC:9890 See related Ensembl:ENSG00000102054 MIM:300825; AllianceGenome:HGNC:9890 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 RbAp46 Summary This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in adrenal (RPKM 151.2), testis (RPKM 63.0) and 24 other tissues See more Orthologs mouse all
RBBP8, Official Symbol RBBP8provided by HGNC Official Full Name RB binding protein 8, endonucleaseprovided by HGNC Primary source HGNC:HGNC:9891 See related Ensembl:ENSG00000101773 MIM:604124; AllianceGenome:HGNC:9891 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 RIM; COM1; CTIP; JWDS; SAE2; JAWAD; SCKL2 Summary The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 11.3), kidney (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
RBBP8NL, Official Symbol RBBP8NLprovided by HGNC Official Full Name RBBP8 N-terminal likeprovided by HGNC Primary source HGNC:HGNC:16144 See related Ensembl:ENSG00000130701 AllianceGenome:HGNC:16144 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 C20orf151 Summary Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 2.1), duodenum (RPKM 2.0) and 16 other tissues See more Orthologs mouse all