psui3905/ncbi_genes_summary huggingface dataset:
INTS8, Official Symbol INTS8provided by HGNC Official Full Name integrator complex subunit 8provided by HGNC Primary source HGNC:HGNC:26048 See related Ensembl:ENSG00000164941 MIM:611351; AllianceGenome:HGNC:26048 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 INT8; NEDCHS; C8orf52 Summary This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in testis (RPKM 10.0), lymph node (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
INTS9, Official Symbol INTS9provided by HGNC Official Full Name integrator complex subunit 9provided by HGNC Primary source HGNC:HGNC:25592 See related Ensembl:ENSG00000104299 MIM:611352; AllianceGenome:HGNC:25592 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 INT9; RC74; CPSF2L Summary This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] Expression Ubiquitous expression in testis (RPKM 6.2), adrenal (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
INTU, Official Symbol INTUprovided by HGNC Official Full Name inturned planar cell polarity proteinprovided by HGNC Primary source HGNC:HGNC:29239 See related Ensembl:ENSG00000164066 MIM:610621; AllianceGenome:HGNC:29239 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 INT; OFD17; PDZD6; PDZK6; SRTD20; CPLANE4 Summary Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 2.8) and 24 other tissues See more Orthologs mouse all
INVS, Official Symbol INVSprovided by HGNC Official Full Name inversinprovided by HGNC Primary source HGNC:HGNC:17870 See related Ensembl:ENSG00000119509 MIM:243305; AllianceGenome:HGNC:17870 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 INV; NPH2; NPHP2 Summary This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in ovary (RPKM 5.9), kidney (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
IP6K1, Official Symbol IP6K1provided by HGNC Official Full Name inositol hexakisphosphate kinase 1provided by HGNC Primary source HGNC:HGNC:18360 See related Ensembl:ENSG00000176095 MIM:606991; AllianceGenome:HGNC:18360 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 PiUS; IHPK1 Summary This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in brain (RPKM 17.4), testis (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
IP6K2, Official Symbol IP6K2provided by HGNC Official Full Name inositol hexakisphosphate kinase 2provided by HGNC Primary source HGNC:HGNC:17313 See related Ensembl:ENSG00000068745 MIM:606992; AllianceGenome:HGNC:17313 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 PIUS; IHPK2; InsP6K2 Summary This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 16.6), skin (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
IP6K3, Official Symbol IP6K3provided by HGNC Official Full Name inositol hexakisphosphate kinase 3provided by HGNC Primary source HGNC:HGNC:17269 See related Ensembl:ENSG00000161896 MIM:606993; AllianceGenome:HGNC:17269 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 IHPK3; INSP6K3 Summary This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008] Expression Broad expression in thyroid (RPKM 4.4), heart (RPKM 3.1) and 14 other tissues See more Orthologs mouse all
IPCEF1, Official Symbol IPCEF1provided by HGNC Official Full Name interaction protein for cytohesin exchange factors 1provided by HGNC Primary source HGNC:HGNC:21204 See related Ensembl:ENSG00000074706 MIM:619948; AllianceGenome:HGNC:21204 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 PIP3E; PIP3-E Summary Predicted to enable peroxidase activity. Predicted to be involved in response to oxidative stress. Predicted to be located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 13.5), brain (RPKM 6.8) and 9 other tissues See more Orthologs mouse all
IPMK, Official Symbol IPMKprovided by HGNC Official Full Name inositol polyphosphate multikinaseprovided by HGNC Primary source HGNC:HGNC:20739 See related Ensembl:ENSG00000151151 MIM:609851; AllianceGenome:HGNC:20739 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 inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in colon (RPKM 5.2), small intestine (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
IPO11, Official Symbol IPO11provided by HGNC Official Full Name importin 11provided by HGNC Primary source HGNC:HGNC:20628 See related Ensembl:ENSG00000086200 MIM:610889; AllianceGenome:HGNC:20628 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 RanBP11 Summary Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008] Expression Ubiquitous expression in testis (RPKM 13.7), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
IPO13, Official Symbol IPO13provided by HGNC Official Full Name importin 13provided by HGNC Primary source HGNC:HGNC:16853 See related Ensembl:ENSG00000117408 MIM:610411; AllianceGenome:HGNC:16853 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 LGL2; IMP13; KAP13; RANBP13 Summary This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009] Expression Broad expression in testis (RPKM 29.4), brain (RPKM 19.8) and 24 other tissues See more Orthologs mouse all
IPO4, Official Symbol IPO4provided by HGNC Official Full Name importin 4provided by HGNC Primary source HGNC:HGNC:19426 See related Ensembl:ENSG00000196497 AllianceGenome:HGNC:19426 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 Imp4 Summary Predicted to enable nuclear import signal receptor activity and nuclear localization sequence binding activity. Involved in DNA replication-dependent chromatin assembly; DNA replication-independent chromatin assembly; and protein import into nucleus. Located in chromatin. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 33.8), thyroid (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
IPO5, Official Symbol IPO5provided by HGNC Official Full Name importin 5provided by HGNC Primary source HGNC:HGNC:6402 See related Ensembl:ENSG00000065150 MIM:602008; AllianceGenome:HGNC:6402 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 IMB3; Pse1; imp5; KPNB3; RANBP5 Summary Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 84.9), ovary (RPKM 29.9) and 25 other tissues See more Orthologs mouse all
IPO7, Official Symbol IPO7provided by HGNC Official Full Name importin 7provided by HGNC Primary source HGNC:HGNC:9852 See related Ensembl:ENSG00000205339 MIM:605586; AllianceGenome:HGNC:9852 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 Imp7; RANBP7 Summary The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 38.5), urinary bladder (RPKM 24.9) and 25 other tissues See more Orthologs mouse all
IPO7P1, Official Symbol IPO7P1provided by HGNC Official Full Name importin 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39837 See related AllianceGenome:HGNC:39837 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IPO7P2, Official Symbol IPO7P2provided by HGNC Official Full Name importin 7 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39838 See related AllianceGenome:HGNC:39838 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IPO8, Official Symbol IPO8provided by HGNC Official Full Name importin 8provided by HGNC Primary source HGNC:HGNC:9853 See related Ensembl:ENSG00000133704 MIM:605600; AllianceGenome:HGNC:9853 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 VISS; RANBP8 Summary The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in thyroid (RPKM 11.8), testis (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
IPO8P1, Official Symbol IPO8P1provided by HGNC Official Full Name importin 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:41955 See related Ensembl:ENSG00000224668 AllianceGenome:HGNC:41955 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IPO9, Official Symbol IPO9provided by HGNC Official Full Name importin 9provided by HGNC Primary source HGNC:HGNC:19425 See related Ensembl:ENSG00000198700 AllianceGenome:HGNC:19425 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 Imp9 Summary Enables nuclear import signal receptor activity. Involved in protein import into nucleus. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.6), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
IPO9-AS1, Official Symbol IPO9-AS1provided by HGNC Official Full Name IPO9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40892 See related Ensembl:ENSG00000231871 AllianceGenome:HGNC:40892 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 Ubiquitous expression in brain (RPKM 5.0), fat (RPKM 3.0) and 25 other tissues See more
IPP, Official Symbol IPPprovided by HGNC Official Full Name intracisternal A particle-promoted polypeptideprovided by HGNC Primary source HGNC:HGNC:6108 See related Ensembl:ENSG00000197429 MIM:147485; AllianceGenome:HGNC:6108 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 KLHL27 Summary The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 2.7), testis (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
IPPK, Official Symbol IPPKprovided by HGNC Official Full Name inositol-pentakisphosphate 2-kinaseprovided by HGNC Primary source HGNC:HGNC:14645 See related Ensembl:ENSG00000127080 MIM:619043; AllianceGenome:HGNC:14645 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 IP5K; IPK1; C9orf12; INSP5K2; bA476B13.1 Summary The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in skin (RPKM 15.1), esophagus (RPKM 8.3) and 24 other tissues See more Orthologs mouse all
IQANK1, Official Symbol IQANK1provided by HGNC Official Full Name IQ motif and ankyrin repeat containing 1provided by HGNC Primary source HGNC:HGNC:49576 See related Ensembl:ENSG00000203499 MIM:618942; AllianceGenome:HGNC:49576 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 CACClnc; FAM83HAS1; FAM83H-AS1; onco-lncRNA-3 Summary Predicted to be involved in regulation of barbed-end actin filament capping. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
IQCA1, Official Symbol IQCA1provided by HGNC Official Full Name IQ motif containing with AAA domain 1provided by HGNC Primary source HGNC:HGNC:26195 See related Ensembl:ENSG00000132321 AllianceGenome:HGNC:26195 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 IQCA; DRC11; 4930465P12Rik Summary The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Biased expression in thyroid (RPKM 10.5), brain (RPKM 3.7) and 10 other tissues See more Orthologs mouse all
IQCA1-AS1, Official Symbol IQCA1-AS1provided by HGNC Official Full Name IQCA1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41137 See related Ensembl:ENSG00000232893 AllianceGenome:HGNC:41137 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
IQCA1L, Official Symbol IQCA1Lprovided by HGNC Official Full Name IQ motif containing with AAA domain 1 likeprovided by HGNC Primary source HGNC:HGNC:22831 See related Ensembl:ENSG00000278685 AllianceGenome:HGNC:22831 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 IQCA1P1 Summary Predicted to enable ATP binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.5) See more Orthologs mouse all
IQCB1, Official Symbol IQCB1provided by HGNC Official Full Name IQ motif containing B1provided by HGNC Primary source HGNC:HGNC:28949 See related Ensembl:ENSG00000173226 MIM:609237; AllianceGenome:HGNC:28949 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 PIQ; NPHP5; SLSN5 Summary This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in testis (RPKM 16.8), lymph node (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
IQCC, Official Symbol IQCCprovided by HGNC Official Full Name IQ motif containing Cprovided by HGNC Primary source HGNC:HGNC:25545 See related Ensembl:ENSG00000160051 AllianceGenome:HGNC:25545 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 Expression Broad expression in testis (RPKM 5.9), thyroid (RPKM 2.5) and 24 other tissues See more Orthologs mouse all
IQCD, Official Symbol IQCDprovided by HGNC Official Full Name IQ motif containing Dprovided by HGNC Primary source HGNC:HGNC:25168 See related Ensembl:ENSG00000166578 AllianceGenome:HGNC:25168 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 DRC10; CFAP84; 4933433C09Rik Summary Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 11.7), lung (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
IQCE, Official Symbol IQCEprovided by HGNC Official Full Name IQ motif containing Eprovided by HGNC Primary source HGNC:HGNC:29171 See related Ensembl:ENSG00000106012 MIM:617631; AllianceGenome:HGNC:29171 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 PAPA7; 1700028P05Rik Summary Involved in limb morphogenesis. Predicted to be extrinsic component of membrane. Predicted to be part of plasma membrane protein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.3), brain (RPKM 6.8) and 24 other tissues See more Orthologs mouse all
IQCF1, Official Symbol IQCF1provided by HGNC Official Full Name IQ motif containing F1provided by HGNC Primary source HGNC:HGNC:28607 See related Ensembl:ENSG00000173389 AllianceGenome:HGNC:28607 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 calmodulin binding activity. Predicted to be involved in positive regulation of acrosome reaction and positive regulation of flagellated sperm motility involved in capacitation. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 24.8) See more Orthologs mouse all
IQCF2, Official Symbol IQCF2provided by HGNC Official Full Name IQ motif containing F2provided by HGNC Primary source HGNC:HGNC:31815 See related Ensembl:ENSG00000184345 AllianceGenome:HGNC:31815 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 calmodulin binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 21.0) See more Orthologs mouse all
IQCF3, Official Symbol IQCF3provided by HGNC Official Full Name IQ motif containing F3provided by HGNC Primary source HGNC:HGNC:31816 See related Ensembl:ENSG00000229972 AllianceGenome:HGNC:31816 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 calmodulin binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 10.2) See more Orthologs mouse all
IQCF4P, Official Symbol IQCF4Pprovided by HGNC Official Full Name IQ motif containing F4, pseudogeneprovided by HGNC Primary source HGNC:HGNC:54720 See related Ensembl:ENSG00000224792 AllianceGenome:HGNC:54720 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 IQCF4 Expression Restricted expression toward testis (RPKM 24.3) See more
IQCF5, Official Symbol IQCF5provided by HGNC Official Full Name IQ motif containing F5provided by HGNC Primary source HGNC:HGNC:35159 See related Ensembl:ENSG00000214681 AllianceGenome:HGNC:35159 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 calmodulin binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 19.7) See more Orthologs all
IQCF5-AS1, Official Symbol IQCF5-AS1provided by HGNC Official Full Name IQCF5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41297 See related Ensembl:ENSG00000235455 AllianceGenome:HGNC:41297 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 5.0) See more
IQCF6, Official Symbol IQCF6provided by HGNC Official Full Name IQ motif containing F6provided by HGNC Primary source HGNC:HGNC:35158 See related Ensembl:ENSG00000214686 AllianceGenome:HGNC:35158 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 calmodulin binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.2) See more Orthologs mouse all
IQCG, Official Symbol IQCGprovided by HGNC Official Full Name IQ motif containing Gprovided by HGNC Primary source HGNC:HGNC:25251 See related Ensembl:ENSG00000114473 MIM:612477; AllianceGenome:HGNC:25251 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 DRC9; CFAP122 Summary Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 19.6), ovary (RPKM 6.1) and 20 other tissues See more Orthologs mouse all
IQCH, Official Symbol IQCHprovided by HGNC Official Full Name IQ motif containing Hprovided by HGNC Primary source HGNC:HGNC:25721 See related Ensembl:ENSG00000103599 MIM:612523; AllianceGenome:HGNC:25721 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 NYDSP5 Expression Biased expression in testis (RPKM 4.7), thyroid (RPKM 1.3) and 5 other tissues See more Orthologs mouse all
IQCH-AS1, Official Symbol IQCH-AS1provided by HGNC Official Full Name IQCH antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44104 See related Ensembl:ENSG00000259673 AllianceGenome:HGNC:44104 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 Ubiquitous expression in kidney (RPKM 1.4), thyroid (RPKM 1.4) and 25 other tissues See more
IQCJ, Official Symbol IQCJprovided by HGNC Official Full Name IQ motif containing Jprovided by HGNC Primary source HGNC:HGNC:32406 See related Ensembl:ENSG00000214216 MIM:611622; AllianceGenome:HGNC:32406 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 Expression Low expression observed in reference dataset See more Orthologs mouse all
IQCJ-SCHIP1, Official Symbol IQCJ-SCHIP1provided by HGNC Official Full Name IQCJ-SCHIP1 readthroughprovided by HGNC Primary source HGNC:HGNC:38842 See related Ensembl:ENSG00000283154 AllianceGenome:HGNC:38842 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 locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010] Expression Broad expression in brain (RPKM 44.2), heart (RPKM 26.4) and 14 other tissues See more Orthologs all
IQCJ-SCHIP1-AS1, Official Symbol IQCJ-SCHIP1-AS1provided by HGNC Official Full Name IQCJ-SCHIP1 readthrough antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41303 See related AllianceGenome:HGNC:41303 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 uaz98 Expression Low expression observed in reference dataset See more
IQCK, Official Symbol IQCKprovided by HGNC Official Full Name IQ motif containing Kprovided by HGNC Primary source HGNC:HGNC:28556 See related Ensembl:ENSG00000174628 AllianceGenome:HGNC:28556 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 belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Broad expression in brain (RPKM 34.9), testis (RPKM 17.8) and 17 other tissues See more Orthologs mouse all
IQCM, Official Symbol IQCMprovided by HGNC Official Full Name IQ motif containing Mprovided by HGNC Primary source HGNC:HGNC:53443 See related Ensembl:ENSG00000234828 AllianceGenome:HGNC:53443 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 Expression Restricted expression toward testis (RPKM 3.1) See more Orthologs mouse all
IQCN, Official Symbol IQCNprovided by HGNC Official Full Name IQ motif containing Nprovided by HGNC Primary source HGNC:HGNC:29350 See related Ensembl:ENSG00000130518 MIM:620160; AllianceGenome:HGNC:29350 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 SPGF78; KIAA1683 Summary Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 15.0), lung (RPKM 1.4) and 4 other tissues See more Orthologs mouse all
IQGAP1, Official Symbol IQGAP1provided by HGNC Official Full Name IQ motif containing GTPase activating protein 1provided by HGNC Primary source HGNC:HGNC:6110 See related Ensembl:ENSG00000140575 MIM:603379; AllianceGenome:HGNC:6110 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 SAR1; p195; HUMORFA01 Summary This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 49.8), appendix (RPKM 48.4) and 25 other tissues See more Orthologs mouse all
IQGAP2, Official Symbol IQGAP2provided by HGNC Official Full Name IQ motif containing GTPase activating protein 2provided by HGNC Primary source HGNC:HGNC:6111 See related Ensembl:ENSG00000145703 MIM:605401; AllianceGenome:HGNC:6111 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 IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] Expression Broad expression in liver (RPKM 36.3), duodenum (RPKM 28.2) and 21 other tissues See more Orthologs mouse all
IQGAP3, Official Symbol IQGAP3provided by HGNC Official Full Name IQ motif containing GTPase activating protein 3provided by HGNC Primary source HGNC:HGNC:20669 See related Ensembl:ENSG00000183856 AllianceGenome:HGNC:20669 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 calmodulin binding activity and myosin VI light chain binding activity. Predicted to be involved in regulation of actin cytoskeleton organization. Predicted to act upstream of or within several processes, including intracellular signal transduction; positive regulation of macromolecule metabolic process; and positive regulation of mammary gland epithelial cell proliferation. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 5.6), duodenum (RPKM 3.0) and 16 other tissues See more Orthologs mouse all
IQSEC1, Official Symbol IQSEC1provided by HGNC Official Full Name IQ motif and Sec7 domain ArfGEF 1provided by HGNC Primary source HGNC:HGNC:29112 See related Ensembl:ENSG00000144711 MIM:610166; AllianceGenome:HGNC:29112 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 BRAG2; GEP100; IDDSSBA; ARFGEP100; ARF-GEP100 Summary Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in nucleolus. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 17.9), bone marrow (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
IQSEC2, Official Symbol IQSEC2provided by HGNC Official Full Name IQ motif and Sec7 domain ArfGEF 2provided by HGNC Primary source HGNC:HGNC:29059 See related Ensembl:ENSG00000124313 MIM:300522; AllianceGenome:HGNC:29059 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 MRX1; BRAG1; MRX18; MRX78; XLID1; IQ-ArfGEF Summary This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 5.1), adrenal (RPKM 1.4) and 23 other tissues See more Orthologs mouse all
IQSEC3, Official Symbol IQSEC3provided by HGNC Official Full Name IQ motif and Sec7 domain ArfGEF 3provided by HGNC Primary source HGNC:HGNC:29193 See related Ensembl:ENSG00000120645 MIM:612118; AllianceGenome:HGNC:29193 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 several processes, including actin cytoskeleton organization; activation of GTPase activity; and regulation of small GTPase mediated signal transduction. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 5.8), fat (RPKM 2.6) and 12 other tissues See more Orthologs mouse all
IQUB, Official Symbol IQUBprovided by HGNC Official Full Name IQ motif and ubiquitin domain containingprovided by HGNC Primary source HGNC:HGNC:21995 See related Ensembl:ENSG00000164675 AllianceGenome:HGNC:21995 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 cilium assembly. Predicted to act upstream of or within smoothened signaling pathway. Predicted to be active in acrosomal vesicle and motile cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 8.0), thyroid (RPKM 0.9) and 1 other tissue See more Orthologs mouse all
IRAG1, Official Symbol IRAG1provided by HGNC Official Full Name inositol 1,4,5-triphosphate receptor associated 1provided by HGNC Primary source HGNC:HGNC:7237 See related Ensembl:ENSG00000072952 MIM:604673; AllianceGenome:HGNC:7237 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 IRAG; JAW1L; MRVI1 Summary This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011] Expression Broad expression in endometrium (RPKM 35.8), gall bladder (RPKM 20.9) and 19 other tissues See more Orthologs mouse all
IRAG1-AS1, Official Symbol IRAG1-AS1provided by HGNC Official Full Name IRAG1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43434 See related Ensembl:ENSG00000177112 AllianceGenome:HGNC:43434 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 MRVI1-AS1 Expression Biased expression in testis (RPKM 26.2) and endometrium (RPKM 1.5) See more
IRAG2, Official Symbol IRAG2provided by HGNC Official Full Name inositol 1,4,5-triphosphate receptor associated 2provided by HGNC Primary source HGNC:HGNC:6690 See related Ensembl:ENSG00000118308 MIM:602003; AllianceGenome:HGNC:6690 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 JAW1; LRMP Summary The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 77.5), appendix (RPKM 26.1) and 5 other tissues See more Orthologs mouse all
IRAK1, Official Symbol IRAK1provided by HGNC Official Full Name interleukin 1 receptor associated kinase 1provided by HGNC Primary source HGNC:HGNC:6112 See related Ensembl:ENSG00000184216 MIM:300283; AllianceGenome:HGNC:6112 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 IRAK; pelle Summary This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 25.0), appendix (RPKM 19.5) and 25 other tissues See more Orthologs mouse all