psui3905/ncbi_genes_summary huggingface dataset:
C17orf107, Official Symbol C17orf107provided by HGNC Official Full Name chromosome 17 open reading frame 107provided by HGNC Primary source HGNC:HGNC:37238 See related Ensembl:ENSG00000205710 AllianceGenome:HGNC:37238 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 heart (RPKM 9.3), salivary gland (RPKM 2.1) and 17 other tissues See more Orthologs mouse all
C17orf113, Official Symbol C17orf113provided by HGNC Official Full Name chromosome 17 open reading frame 113provided by HGNC Primary source HGNC:HGNC:53437 See related Ensembl:ENSG00000267221 AllianceGenome:HGNC:53437 Gene type protein coding RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
C17orf114, Official Symbol C17orf114provided by HGNC Official Full Name chromosome 17 open reading frame 114provided by HGNC Primary source HGNC:HGNC:55343 See related Ensembl:ENSG00000262165 AllianceGenome:HGNC:55343 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 Orthologs mouse all
C17orf49, Official Symbol C17orf49provided by HGNC Official Full Name chromosome 17 open reading frame 49provided by HGNC Primary source HGNC:HGNC:28737 See related Ensembl:ENSG00000258315 MIM:617215; AllianceGenome:HGNC:28737 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 BAP18; HEPIS Summary Enables identical protein binding activity. Predicted to be involved in chromatin organization. Located in cytosol and nucleoplasm. Part of MLL1 complex and NURF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 37.2), lymph node (RPKM 34.4) and 25 other tissues See more Orthologs mouse all
C17orf50, Official Symbol C17orf50provided by HGNC Official Full Name chromosome 17 open reading frame 50provided by HGNC Primary source HGNC:HGNC:29581 See related Ensembl:ENSG00000270806 AllianceGenome:HGNC:29581 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 13.1) See more Orthologs mouse all
C17orf58, Official Symbol C17orf58provided by HGNC Official Full Name chromosome 17 open reading frame 58provided by HGNC Primary source HGNC:HGNC:27568 See related Ensembl:ENSG00000186665 AllianceGenome:HGNC:27568 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 Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 15.6), endometrium (RPKM 14.5) and 24 other tissues See more Orthologs mouse all
C17orf67, Official Symbol C17orf67provided by HGNC Official Full Name chromosome 17 open reading frame 67provided by HGNC Primary source HGNC:HGNC:27900 See related Ensembl:ENSG00000214226 AllianceGenome:HGNC:27900 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 located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 1.1), endometrium (RPKM 0.9) and 25 other tissues See more Orthologs mouse all
C17orf75, Official Symbol C17orf75provided by HGNC Official Full Name chromosome 17 open reading frame 75provided by HGNC Primary source HGNC:HGNC:30173 See related Ensembl:ENSG00000108666 AllianceGenome:HGNC:30173 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 SRI2; NJMU-R1 Summary Involved in intracellular protein transport and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.3), thyroid (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
C17orf78, Official Symbol C17orf78provided by HGNC Official Full Name chromosome 17 open reading frame 78provided by HGNC Primary source HGNC:HGNC:26831 See related Ensembl:ENSG00000278505 AllianceGenome:HGNC:26831 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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 77.3) and small intestine (RPKM 37.2) See more Orthologs mouse all
C17orf80, Official Symbol C17orf80provided by HGNC Official Full Name chromosome 17 open reading frame 80provided by HGNC Primary source HGNC:HGNC:29601 See related Ensembl:ENSG00000141219 AllianceGenome:HGNC:29601 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 MIG3; HLC-8; SPEP1 Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.0), thyroid (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
C17orf99, Official Symbol C17orf99provided by HGNC Official Full Name chromosome 17 open reading frame 99provided by HGNC Primary source HGNC:HGNC:34490 See related Ensembl:ENSG00000187997 AllianceGenome:HGNC:34490 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 IL-40; UNQ464 Summary Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mature B cell differentiation involved in immune response; and positive regulation of immunoglobulin production in mucosal tissue. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 1.9) and lymph node (RPKM 0.1) See more Orthologs mouse all
C18orf15, Official Symbol C18orf15provided by HGNC Official Full Name chromosome 18 putative open reading frame 15provided by HGNC Primary source HGNC:HGNC:26447 See related Ensembl:ENSG00000279020 AllianceGenome:HGNC:26447 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 HsT3231 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
C18orf21, Official Symbol C18orf21provided by HGNC Official Full Name chromosome 18 open reading frame 21provided by HGNC Primary source HGNC:HGNC:28802 See related Ensembl:ENSG00000141428 AllianceGenome:HGNC:28802 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 XTP13; HsT3108; PNAS-124; PNAS-131 Expression Ubiquitous expression in testis (RPKM 16.8), bone marrow (RPKM 16.7) and 25 other tissues See more Orthologs mouse all
C18orf32, Official Symbol C18orf32provided by HGNC Official Full Name chromosome 18 open reading frame 32provided by HGNC Primary source HGNC:HGNC:31690 See related Ensembl:ENSG00000177576 MIM:619979; AllianceGenome:HGNC:31690 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 GPIBD25 Summary Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 45.1), kidney (RPKM 32.7) and 25 other tissues See more Orthologs mouse all
C18orf54, Official Symbol C18orf54provided by HGNC Official Full Name chromosome 18 open reading frame 54provided by HGNC Primary source HGNC:HGNC:13796 See related Ensembl:ENSG00000166845 MIM:613258; AllianceGenome:HGNC:13796 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 LAS2 Summary Predicted to act upstream of or within negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.1), placenta (RPKM 1.1) and 15 other tissues See more Orthologs mouse all
C18orf63, Official Symbol C18orf63provided by HGNC Official Full Name chromosome 18 open reading frame 63provided by HGNC Primary source HGNC:HGNC:40037 See related Ensembl:ENSG00000206043 AllianceGenome:HGNC:40037 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 DKFZP781G0119 Expression Restricted expression toward testis (RPKM 7.1) See more Orthologs mouse all
C19orf12, Official Symbol C19orf12provided by HGNC Official Full Name chromosome 19 open reading frame 12provided by HGNC Primary source HGNC:HGNC:25443 See related Ensembl:ENSG00000131943 MIM:614297; AllianceGenome:HGNC:25443 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 MPAN; NBIA3; NBIA4; SPG43 Summary This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in fat (RPKM 24.8), brain (RPKM 6.3) and 23 other tissues See more Orthologs mouse all
C19orf18, Official Symbol C19orf18provided by HGNC Official Full Name chromosome 19 open reading frame 18provided by HGNC Primary source HGNC:HGNC:28642 See related Ensembl:ENSG00000177025 AllianceGenome:HGNC:28642 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 Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.2), heart (RPKM 0.8) and 15 other tissues See more Orthologs mouse all
C19orf25, Official Symbol C19orf25provided by HGNC Official Full Name chromosome 19 open reading frame 25provided by HGNC Primary source HGNC:HGNC:26711 See related Ensembl:ENSG00000119559 AllianceGenome:HGNC:26711 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 brain (RPKM 34.2), testis (RPKM 4.8) and 22 other tissues See more Orthologs mouse all
C19orf33, Official Symbol C19orf33provided by HGNC Official Full Name chromosome 19 open reading frame 33provided by HGNC Primary source HGNC:HGNC:16668 See related Ensembl:ENSG00000167644 MIM:619711; AllianceGenome:HGNC:16668 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 IMUP; H2RSP; IMUP-1; IMUP-2 Summary The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Biased expression in colon (RPKM 62.2), small intestine (RPKM 43.1) and 11 other tissues See more Orthologs mouse all
C19orf38, Official Symbol C19orf38provided by HGNC Official Full Name chromosome 19 open reading frame 38provided by HGNC Primary source HGNC:HGNC:34073 See related Ensembl:ENSG00000214212 AllianceGenome:HGNC:34073 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 HIDE1 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 25.7), spleen (RPKM 5.5) and 5 other tissues See more Orthologs mouse all
C19orf44, Official Symbol C19orf44provided by HGNC Official Full Name chromosome 19 open reading frame 44provided by HGNC Primary source HGNC:HGNC:26141 See related Ensembl:ENSG00000105072 AllianceGenome:HGNC:26141 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 Ubiquitous expression in testis (RPKM 10.2), ovary (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
C19orf47, Official Symbol C19orf47provided by HGNC Official Full Name chromosome 19 open reading frame 47provided by HGNC Primary source HGNC:HGNC:26723 See related Ensembl:ENSG00000160392 AllianceGenome:HGNC:26723 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 Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 2.7), testis (RPKM 2.0) and 25 other tissues See more Orthologs mouse all
C19orf53, Official Symbol C19orf53provided by HGNC Official Full Name chromosome 19 open reading frame 53provided by HGNC Primary source HGNC:HGNC:24991 See related Ensembl:ENSG00000104979 AllianceGenome:HGNC:24991 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 L10K; LYDG10; HSPC023 Expression Ubiquitous expression in ovary (RPKM 36.1), heart (RPKM 32.6) and 25 other tissues See more Orthologs mouse all
C19orf67, Official Symbol C19orf67provided by HGNC Official Full Name chromosome 19 open reading frame 67provided by HGNC Primary source HGNC:HGNC:34354 See related Ensembl:ENSG00000188032 AllianceGenome:HGNC:34354 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 act upstream of or within in utero embryonic development. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
C19orf73, Official Symbol C19orf73provided by HGNC Official Full Name chromosome 19 open reading frame 73provided by HGNC Primary source HGNC:HGNC:25534 See related Ensembl:ENSG00000221916 AllianceGenome:HGNC:25534 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 Orthologs all
C19orf81, Official Symbol C19orf81provided by HGNC Official Full Name chromosome 19 open reading frame 81provided by HGNC Primary source HGNC:HGNC:40041 See related Ensembl:ENSG00000235034 AllianceGenome:HGNC:40041 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
C19orf84, Official Symbol C19orf84provided by HGNC Official Full Name chromosome 19 open reading frame 84provided by HGNC Primary source HGNC:HGNC:27112 See related Ensembl:ENSG00000262874 AllianceGenome:HGNC:27112 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 8.4) See more Orthologs mouse all
C19orf85, Official Symbol C19orf85provided by HGNC Official Full Name chromosome 19 open reading frame 85provided by HGNC Primary source HGNC:HGNC:53653 See related Ensembl:ENSG00000283567 AllianceGenome:HGNC:53653 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 Orthologs mouse all
C1D, Official Symbol C1Dprovided by HGNC Official Full Name C1D nuclear receptor corepressorprovided by HGNC Primary source HGNC:HGNC:29911 See related Ensembl:ENSG00000197223 MIM:606997; AllianceGenome:HGNC:29911 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 LRP1; hC1D; Rrp47; SUNCOR; SUN-CoR Summary The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in bone marrow (RPKM 17.9), adrenal (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
C1DP3, Official Symbol C1DP3provided by HGNC Official Full Name C1D nuclear receptor corepressor pseudogene 3provided by HGNC Primary source HGNC:HGNC:31661 See related AllianceGenome:HGNC:31661 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as bA369J21.2
C1DP4, Official Symbol C1DP4provided by HGNC Official Full Name C1D nuclear receptor corepressor pseudogene 4provided by HGNC Primary source HGNC:HGNC:38028 See related AllianceGenome:HGNC:38028 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
C1DP5, Official Symbol C1DP5provided by HGNC Official Full Name C1D nuclear receptor corepressor pseudogene 5provided by HGNC Primary source HGNC:HGNC:51613 See related Ensembl:ENSG00000254965 AllianceGenome:HGNC:51613 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
C1GALT1, Official Symbol C1GALT1provided by HGNC Official Full Name core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1provided by HGNC Primary source HGNC:HGNC:24337 See related Ensembl:ENSG00000106392 MIM:610555; AllianceGenome:HGNC:24337 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 C1GALT; T-synthase Summary The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in bone marrow (RPKM 7.5), duodenum (RPKM 6.7) and 24 other tissues See more Orthologs mouse all
C1GALT1C1, Official Symbol C1GALT1C1provided by HGNC Official Full Name C1GALT1 specific chaperone 1provided by HGNC Primary source HGNC:HGNC:24338 See related Ensembl:ENSG00000171155 MIM:300611; AllianceGenome:HGNC:24338 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 TNPS; AHUS8; COSMC; MST143; C1GALT2; HSPC067; C38H2-L1 Summary This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009] Expression Ubiquitous expression in adrenal (RPKM 15.6), colon (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
C1GALT1C1L, Official Symbol C1GALT1C1Lprovided by HGNC Official Full Name C1GALT1 specific chaperone 1 likeprovided by HGNC Primary source HGNC:HGNC:51617 See related Ensembl:ENSG00000223658 AllianceGenome:HGNC:51617 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 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Predicted to be involved in O-glycan processing, core 1. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
C1GALT1P3, Official Symbol C1GALT1P3provided by HGNC Official Full Name C1GALT1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:51616 See related Ensembl:ENSG00000253544 AllianceGenome:HGNC:51616 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
C1QA, Official Symbol C1QAprovided by HGNC Official Full Name complement C1q A chainprovided by HGNC Primary source HGNC:HGNC:1241 See related Ensembl:ENSG00000173372 MIM:120550; AllianceGenome:HGNC:1241 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 C1QD1 Summary This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Broad expression in spleen (RPKM 445.5), lymph node (RPKM 179.4) and 16 other tissues See more Orthologs mouse all
C1QB, Official Symbol C1QBprovided by HGNC Official Full Name complement C1q B chainprovided by HGNC Primary source HGNC:HGNC:1242 See related Ensembl:ENSG00000173369 MIM:120570; AllianceGenome:HGNC:1242 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 C1QD2 Summary This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016] Expression Broad expression in spleen (RPKM 482.2), lymph node (RPKM 181.6) and 15 other tissues See more Orthologs mouse all
C1QBP, Official Symbol C1QBPprovided by HGNC Official Full Name complement C1q binding proteinprovided by HGNC Primary source HGNC:HGNC:1243 See related Ensembl:ENSG00000108561 MIM:601269; AllianceGenome:HGNC:1243 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 p32; HABP1; gC1qR; GC1QBP; SF2p32; gC1Q-R; COXPD33; SF2AP32 Summary The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 56.9), kidney (RPKM 48.1) and 25 other tissues See more Orthologs mouse all
C1QC, Official Symbol C1QCprovided by HGNC Official Full Name complement C1q C chainprovided by HGNC Primary source HGNC:HGNC:1245 See related Ensembl:ENSG00000159189 MIM:120575; AllianceGenome:HGNC:1245 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 C1QG; C1Q-C; C1QD3 Summary This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016] Expression Broad expression in spleen (RPKM 519.1), lymph node (RPKM 141.4) and 14 other tissues See more Orthologs mouse all
C1QL1, Official Symbol C1QL1provided by HGNC Official Full Name complement C1q like 1provided by HGNC Primary source HGNC:HGNC:24182 See related Ensembl:ENSG00000131094 MIM:611586; AllianceGenome:HGNC:24182 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 CRF; C1QRF; CTRP14; C1QTNF14 Summary Predicted to enable signaling receptor binding activity. Predicted to act upstream of or within maintenance of synapse structure; motor learning; and neuron remodeling. Predicted to be located in several cellular components, including climbing fiber; presynapse; and synaptic cleft. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 10.8), kidney (RPKM 1.7) and 4 other tissues See more Orthologs mouse all
C1QL1P1, Official Symbol C1QL1P1provided by HGNC Official Full Name complement C1q like 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51809 See related Ensembl:ENSG00000260134 AllianceGenome:HGNC:51809 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
C1QL2, Official Symbol C1QL2provided by HGNC Official Full Name complement C1q like 2provided by HGNC Primary source HGNC:HGNC:24181 See related Ensembl:ENSG00000144119 MIM:614330; AllianceGenome:HGNC:24181 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 CTRP10; C1QTNF10 Summary Predicted to enable identical protein binding activity. Predicted to be located in extracellular region. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
C1QL3, Official Symbol C1QL3provided by HGNC Official Full Name complement C1q like 3provided by HGNC Primary source HGNC:HGNC:19359 See related Ensembl:ENSG00000165985 MIM:615227; AllianceGenome:HGNC:19359 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 C1ql; K100; CTRP13; C1QTNF13 Summary Predicted to enable identical protein binding activity. Predicted to act upstream of or within regulation of synapse organization. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 20.3), kidney (RPKM 2.3) and 3 other tissues See more Orthologs mouse all
C1QL4, Official Symbol C1QL4provided by HGNC Official Full Name complement C1q like 4provided by HGNC Primary source HGNC:HGNC:31416 See related Ensembl:ENSG00000186897 MIM:615229; AllianceGenome:HGNC:31416 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 CTRP11; C1QTNF11 Summary Predicted to enable identical protein binding activity. Predicted to act upstream of or within negative regulation of ERK1 and ERK2 cascade; negative regulation of fat cell differentiation; and negative regulation of fibroblast proliferation. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
C1QTNF1, Official Symbol C1QTNF1provided by HGNC Official Full Name C1q and TNF related 1provided by HGNC Primary source HGNC:HGNC:14324 See related Ensembl:ENSG00000173918 MIM:610365; AllianceGenome:HGNC:14324 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 GIP; CTRP1; ZSIG37 Summary Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 33.8), placenta (RPKM 15.4) and 21 other tissues See more Orthologs mouse all
C1QTNF12, Official Symbol C1QTNF12provided by HGNC Official Full Name C1q and TNF related 12provided by HGNC Primary source HGNC:HGNC:32308 See related Ensembl:ENSG00000184163 MIM:616593; AllianceGenome:HGNC:32308 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 C1QDC2; CTRP12; FAM132A Summary Predicted to enable hormone activity. Predicted to be involved in negative regulation of gluconeogenesis; positive regulation of glucose import; and positive regulation of insulin receptor signaling pathway. Predicted to act upstream of or within negative regulation of inflammatory response; positive regulation of cell communication; and regulation of glucose metabolic process. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 4.0), small intestine (RPKM 3.7) and 7 other tissues See more Orthologs mouse all
C1QTNF2, Official Symbol C1QTNF2provided by HGNC Official Full Name C1q and TNF related 2provided by HGNC Primary source HGNC:HGNC:14325 See related Ensembl:ENSG00000145861 MIM:618647; AllianceGenome:HGNC:14325 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 CTRP2; zacrp2 Summary Predicted to enable identical protein binding activity and signaling receptor binding activity. Predicted to be involved in regulation of lipid metabolic process. Predicted to act upstream of or within positive regulation of MAPK cascade; positive regulation of glucose import; and positive regulation of small molecule metabolic process. Predicted to be located in extracellular space. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.3), lung (RPKM 1.2) and 23 other tissues See more Orthologs mouse all
C1QTNF3, Official Symbol C1QTNF3provided by HGNC Official Full Name C1q and TNF related 3provided by HGNC Primary source HGNC:HGNC:14326 See related Ensembl:ENSG00000082196 MIM:612045; AllianceGenome:HGNC:14326 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 CORS; CORCS; CTRP3; CORS26; C1ATNF3; CORS-26 Summary Enables identical protein binding activity. Involved in several processes, including cellular triglyceride homeostasis; negative regulation of NIK/NF-kappaB signaling; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 12.4), urinary bladder (RPKM 10.0) and 21 other tissues See more Orthologs mouse all
C1QTNF3-AMACR, Official Symbol C1QTNF3-AMACRprovided by HGNC Official Full Name C1QTNF3-AMACR readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:49198 See related Ensembl:ENSG00000273294 AllianceGenome:HGNC:49198 Gene type ncRNA RefSeq status VALIDATED 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 between the neighboring C1q and tumor necrosis factor related protein 3 (C1QTNF3) and alpha-methylacyl-CoA racemase (AMACR) genes on chromosome 5. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus not likely to produce a protein product. [provided by RefSeq, Mar 2011] Expression Broad expression in kidney (RPKM 31.7), prostate (RPKM 26.5) and 23 other tissues See more
C1QTNF4, Official Symbol C1QTNF4provided by HGNC Official Full Name C1q and TNF related 4provided by HGNC Primary source HGNC:HGNC:14346 See related Ensembl:ENSG00000172247 MIM:614911; AllianceGenome:HGNC:14346 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 CTRP4; ZACRP4 Summary Predicted to enable cytokine activity. Involved in positive regulation of cytokine production and positive regulation of signal transduction. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 5.9), bone marrow (RPKM 0.3) and 2 other tissues See more Orthologs mouse all
C1QTNF5, Official Symbol C1QTNF5provided by HGNC Official Full Name C1q and TNF related 5provided by HGNC Primary source HGNC:HGNC:14344 See related Ensembl:ENSG00000223953 MIM:608752; AllianceGenome:HGNC:14344 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 MFRP; CTRP5 Summary This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013] Expression Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues See more Orthologs mouse all
C1QTNF6, Official Symbol C1QTNF6provided by HGNC Official Full Name C1q and TNF related 6provided by HGNC Primary source HGNC:HGNC:14343 See related Ensembl:ENSG00000133466 MIM:614910; AllianceGenome:HGNC:14343 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 CTFP6; CTRP6; ZACRP6 Summary Predicted to enable identical protein binding activity. Predicted to be located in extracellular space. Predicted to be integral component of membrane. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 12.1), placenta (RPKM 6.4) and 16 other tissues See more Orthologs mouse all
C1QTNF7, Official Symbol C1QTNF7provided by HGNC Official Full Name C1q and TNF related 7provided by HGNC Primary source HGNC:HGNC:14342 See related Ensembl:ENSG00000163145 AllianceGenome:HGNC:14342 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 CTRP7; ZACRP7 Summary Predicted to enable identical protein binding activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 7.0), gall bladder (RPKM 5.4) and 20 other tissues See more Orthologs mouse all
C1QTNF7-AS1, Official Symbol C1QTNF7-AS1provided by HGNC Official Full Name C1QTNF7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40683 See related Ensembl:ENSG00000249252 AllianceGenome:HGNC:40683 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
C1QTNF8, Official Symbol C1QTNF8provided by HGNC Official Full Name C1q and TNF related 8provided by HGNC Primary source HGNC:HGNC:31374 See related Ensembl:ENSG00000184471 MIM:614147; AllianceGenome:HGNC:31374 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 CTRP8; UNQ5829 Summary Involved in positive regulation of cell motility. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
C1QTNF9, Official Symbol C1QTNF9provided by HGNC Official Full Name C1q and TNF related 9provided by HGNC Primary source HGNC:HGNC:28732 See related Ensembl:ENSG00000240654 MIM:614285; AllianceGenome:HGNC:28732 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 AQL1; CTRP9; C1QTNF9A Summary Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.7), heart (RPKM 1.5) and 21 other tissues See more Orthologs all
C1QTNF9B, Official Symbol C1QTNF9Bprovided by HGNC Official Full Name C1q and TNF related 9Bprovided by HGNC Primary source HGNC:HGNC:34072 See related Ensembl:ENSG00000205863 MIM:614148; AllianceGenome:HGNC:34072 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 CTRP9B Summary Predicted to enable hormone activity and identical protein binding activity. Predicted to act upstream of or within several processes, including energy homeostasis; negative regulation of cell size; and positive regulation of protein serine/threonine kinase activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 4.3), skin (RPKM 4.1) and 12 other tissues See more Orthologs all
C1R, Official Symbol C1Rprovided by HGNC Official Full Name complement C1rprovided by HGNC Primary source HGNC:HGNC:1246 See related Ensembl:ENSG00000159403 MIM:613785; AllianceGenome:HGNC:1246 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 EDS8; EDSPD1 Summary This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018] Expression Broad expression in liver (RPKM 563.3), gall bladder (RPKM 285.8) and 20 other tissues See more Orthologs all
C1RL, Official Symbol C1RLprovided by HGNC Official Full Name complement C1r subcomponent likeprovided by HGNC Primary source HGNC:HGNC:21265 See related Ensembl:ENSG00000139178 MIM:608974; AllianceGenome:HGNC:21265 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 C1RL1; C1RLP; CLSPa; C1r-LP Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 37.4), adrenal (RPKM 16.4) and 22 other tissues See more Orthologs mouse all
C1RL-AS1, Official Symbol C1RL-AS1provided by HGNC Official Full Name C1RL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27461 See related Ensembl:ENSG00000205885 AllianceGenome:HGNC:27461 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MATL2963 Expression Ubiquitous expression in spleen (RPKM 4.3), lymph node (RPKM 3.2) and 25 other tissues See more
C1S, Official Symbol C1Sprovided by HGNC Official Full Name complement C1sprovided by HGNC Primary source HGNC:HGNC:1247 See related Ensembl:ENSG00000182326 MIM:120580; AllianceGenome:HGNC:1247 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 EDSPD2 Summary This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009] Expression Broad expression in liver (RPKM 683.7), gall bladder (RPKM 363.8) and 18 other tissues See more Orthologs mouse all