psui3905/ncbi_genes_summary huggingface dataset:
CEP68, Official Symbol CEP68provided by HGNC Official Full Name centrosomal protein 68provided by HGNC Primary source HGNC:HGNC:29076 See related Ensembl:ENSG00000011523 MIM:616889; AllianceGenome:HGNC:29076 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 KIAA0582 Summary Enables protein domain specific binding activity and protein kinase binding activity. Involved in centriole-centriole cohesion and protein localization to organelle. Located in several cellular components, including centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 8.3), ovary (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
CEP70, Official Symbol CEP70provided by HGNC Official Full Name centrosomal protein 70provided by HGNC Primary source HGNC:HGNC:29972 See related Ensembl:ENSG00000114107 MIM:614310; AllianceGenome:HGNC:29972 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 BITE Summary Enables identical protein binding activity. Predicted to be involved in cilium assembly and regulation of microtubule cytoskeleton organization. Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.4), duodenum (RPKM 7.8) and 22 other tissues See more Orthologs mouse all
CEP72, Official Symbol CEP72provided by HGNC Official Full Name centrosomal protein 72provided by HGNC Primary source HGNC:HGNC:25547 See related Ensembl:ENSG00000112877 MIM:616475; AllianceGenome:HGNC:25547 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 2.7), thyroid (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
CEP76, Official Symbol CEP76provided by HGNC Official Full Name centrosomal protein 76provided by HGNC Primary source HGNC:HGNC:25727 See related Ensembl:ENSG00000101624 AllianceGenome:HGNC:25727 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 C18orf9; HsT1705 Summary This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Expression Broad expression in testis (RPKM 7.3), esophagus (RPKM 1.7) and 23 other tissues See more Orthologs mouse all
CEP78, Official Symbol CEP78provided by HGNC Official Full Name centrosomal protein 78provided by HGNC Primary source HGNC:HGNC:25740 See related Ensembl:ENSG00000148019 MIM:617110; AllianceGenome:HGNC:25740 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 IP63; CRDHL; C9orf81 Summary This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 2.3) and 24 other tissues See more Orthologs mouse all
CEP83, Official Symbol CEP83provided by HGNC Official Full Name centrosomal protein 83provided by HGNC Primary source HGNC:HGNC:17966 See related Ensembl:ENSG00000173588 MIM:615847; AllianceGenome:HGNC:17966 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 CCDC41; NPHP18; NY-REN-58 Summary The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in testis (RPKM 3.2), appendix (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
CEP83-DT, Official Symbol CEP83-DTprovided by HGNC Official Full Name CEP83 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:27055 See related Ensembl:ENSG00000278916 AllianceGenome:HGNC:27055 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 CEP83-AS1; CCDC41-AS1
CEP85, Official Symbol CEP85provided by HGNC Official Full Name centrosomal protein 85provided by HGNC Primary source HGNC:HGNC:25309 See related Ensembl:ENSG00000130695 MIM:618898; AllianceGenome:HGNC:25309 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 CCDC21 Summary This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in testis (RPKM 23.4), heart (RPKM 8.7) and 20 other tissues See more Orthologs mouse all
CEP85L, Official Symbol CEP85Lprovided by HGNC Official Full Name centrosomal protein 85 likeprovided by HGNC Primary source HGNC:HGNC:21638 See related Ensembl:ENSG00000111860 MIM:618865; AllianceGenome:HGNC:21638 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 LIS10; C6orf204; NY-BR-15; bA57K17.2 Summary The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Expression Broad expression in testis (RPKM 7.6), lymph node (RPKM 5.2) and 23 other tissues See more Orthologs mouse all
CEP89, Official Symbol CEP89provided by HGNC Official Full Name centrosomal protein 89provided by HGNC Primary source HGNC:HGNC:25907 See related Ensembl:ENSG00000121289 MIM:615470; AllianceGenome:HGNC:25907 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 CEP123; CCDC123 Summary Involved in non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including cytosol; microtubule cytoskeleton; and non-motile cilium. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
CEP95, Official Symbol CEP95provided by HGNC Official Full Name centrosomal protein 95provided by HGNC Primary source HGNC:HGNC:25141 See related Ensembl:ENSG00000258890 AllianceGenome:HGNC:25141 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 CCDC45 Summary Located in centrosome and spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.3), bone marrow (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
CEP97, Official Symbol CEP97provided by HGNC Official Full Name centrosomal protein 97provided by HGNC Primary source HGNC:HGNC:26244 See related Ensembl:ENSG00000182504 MIM:615864; AllianceGenome:HGNC:26244 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 LRRIQ2; 2810403B08Rik Summary Predicted to enable calmodulin binding activity. Involved in negative regulation of cilium assembly and regulation of mitotic spindle assembly. Located in centriolar satellite and cytosol. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in testis (RPKM 4.1), brain (RPKM 4.0) and 24 other tissues See more Orthologs mouse all
CEPT1, Official Symbol CEPT1provided by HGNC Official Full Name choline/ethanolamine phosphotransferase 1provided by HGNC Primary source HGNC:HGNC:24289 See related Ensembl:ENSG00000134255 MIM:616751; AllianceGenome:HGNC:24289 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 codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in spleen (RPKM 19.9), lymph node (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
CER1, Official Symbol CER1provided by HGNC Official Full Name cerberus 1, DAN family BMP antagonistprovided by HGNC Primary source HGNC:HGNC:1862 See related Ensembl:ENSG00000147869 MIM:603777; AllianceGenome:HGNC:1862 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 DAND4 Summary This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CERCAM, Official Symbol CERCAMprovided by HGNC Official Full Name cerebral endothelial cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:23723 See related Ensembl:ENSG00000167123 MIM:616626; AllianceGenome:HGNC:23723 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 CEECAM1; GLT25D3 Summary Enables identical protein binding activity. Acts upstream of or within cell adhesion. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 35.8), placenta (RPKM 14.3) and 19 other tissues See more Orthologs mouse all
CERK, Official Symbol CERKprovided by HGNC Official Full Name ceramide kinaseprovided by HGNC Primary source HGNC:HGNC:19256 See related Ensembl:ENSG00000100422 MIM:610307; AllianceGenome:HGNC:19256 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 LK4; hCERK; dA59H18.2; dA59H18.3 Summary CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in small intestine (RPKM 16.4), duodenum (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
CERKL, Official Symbol CERKLprovided by HGNC Official Full Name ceramide kinase likeprovided by HGNC Primary source HGNC:HGNC:21699 See related Ensembl:ENSG00000188452 MIM:608381; AllianceGenome:HGNC:21699 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 RP26 Summary This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010] Expression Broad expression in lymph node (RPKM 16.6), appendix (RPKM 16.2) and 20 other tissues See more Orthologs mouse all
CERNA2, Official Symbol CERNA2provided by HGNC Official Full Name competing endogenous lncRNA 2 for microRNA let-7bprovided by HGNC Primary source HGNC:HGNC:51354 See related Ensembl:ENSG00000285972 MIM:617434; AllianceGenome:HGNC:51354 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HOST2; lncRNA-HOST2 Summary This gene produces a long non-coding transcript that functions in ovarian carcinogenesis by promoting tumor cell migration, invasion and proliferation. It binds to the microRNA let-7b (MIRLET7B), which is a potent tumor suppressor, thereby inhibiting the functions of that microRNA by modulating its availability to its targets. [provided by RefSeq, Dec 2015] Expression Biased expression in esophagus (RPKM 3.5), endometrium (RPKM 2.9) and 6 other tissues See more
CERNA3, Official Symbol CERNA3provided by HGNC Official Full Name competing endogenous lncRNA 3 for miR-645provided by HGNC Primary source HGNC:HGNC:53469 See related Ensembl:ENSG00000253603 AllianceGenome:HGNC:53469 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 CTA Expression Low expression observed in reference dataset See more
CEROX1, Official Symbol CEROX1provided by HGNC Official Full Name cytoplasmic endogenous regulator of oxidative phosphorylation 1provided by HGNC Primary source HGNC:HGNC:53928 See related Ensembl:ENSG00000260807 AllianceGenome:HGNC:53928 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Orthologs mouse all
CERS1, Official Symbol CERS1provided by HGNC Official Full Name ceramide synthase 1provided by HGNC Primary source HGNC:HGNC:14253 See related Ensembl:ENSG00000223802 MIM:606919; AllianceGenome:HGNC:14253 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 EPM8; GDF1; LAG1; UOG1; GDF-1; LASS1 Summary This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 22.5) and testis (RPKM 5.1) See more Orthologs mouse all
CERS2, Official Symbol CERS2provided by HGNC Official Full Name ceramide synthase 2provided by HGNC Primary source HGNC:HGNC:14076 See related Ensembl:ENSG00000143418 MIM:606920; AllianceGenome:HGNC:14076 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 L3; LASS2; SP260; TMSG1 Summary This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 113.9), adrenal (RPKM 85.4) and 25 other tissues See more Orthologs mouse all
CERS3, Official Symbol CERS3provided by HGNC Official Full Name ceramide synthase 3provided by HGNC Primary source HGNC:HGNC:23752 See related Ensembl:ENSG00000154227 MIM:615276; AllianceGenome:HGNC:23752 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 ARCI9; LASS3 Summary This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Biased expression in skin (RPKM 15.5), esophagus (RPKM 13.5) and 1 other tissue See more Orthologs mouse all
CERS4, Official Symbol CERS4provided by HGNC Official Full Name ceramide synthase 4provided by HGNC Primary source HGNC:HGNC:23747 See related Ensembl:ENSG00000090661 MIM:615334; AllianceGenome:HGNC:23747 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 Trh1; LASS4 Summary Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.3) and 24 other tissues See more Orthologs mouse all
CERS5, Official Symbol CERS5provided by HGNC Official Full Name ceramide synthase 5provided by HGNC Primary source HGNC:HGNC:23749 See related Ensembl:ENSG00000139624 MIM:615335; AllianceGenome:HGNC:23749 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 Trh4; LASS5 Summary This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in endometrium (RPKM 6.0), placenta (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
CERS6, Official Symbol CERS6provided by HGNC Official Full Name ceramide synthase 6provided by HGNC Primary source HGNC:HGNC:23826 See related Ensembl:ENSG00000172292 MIM:615336; AllianceGenome:HGNC:23826 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 CERS5; LASS6 Summary Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 18.1), thyroid (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
CERS6-AS1, Official Symbol CERS6-AS1provided by HGNC Official Full Name CERS6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44485 See related Ensembl:ENSG00000227617 AllianceGenome:HGNC:44485 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 colon (RPKM 29.8), thyroid (RPKM 25.0) and 25 other tissues See more
CERT1, Official Symbol CERT1provided by HGNC Official Full Name ceramide transporter 1provided by HGNC Primary source HGNC:HGNC:2205 See related Ensembl:ENSG00000113163 MIM:604677; AllianceGenome:HGNC:2205 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 CERT; GPBP; CERTL; MRD34; STARD11; COL4A3BP Summary This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 18.3), fat (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
CES1, Official Symbol CES1provided by HGNC Official Full Name carboxylesterase 1provided by HGNC Primary source HGNC:HGNC:1863 See related Ensembl:ENSG00000198848 MIM:114835; AllianceGenome:HGNC:1863 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 CEH; REH; TGH; ACAT; CE-1; CES2; HMSE; SES1; HMSE1; PCE-1; hCE-1 Summary This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] Expression Biased expression in liver (RPKM 737.7), gall bladder (RPKM 239.9) and 3 other tissues See more Orthologs all
CES1P1, Official Symbol CES1P1provided by HGNC Official Full Name carboxylesterase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:18546 See related Ensembl:ENSG00000291109 AllianceGenome:HGNC:18546 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CES4; CESR; PCE-3; CES1A2; CES1A3 Summary This gene is a member of the carboxylesterase (CES) gene family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene does not encode a protein and the sequence is similar to the CES1 gene, so represents a pseudogene of the CES1 gene. [provided by RefSeq, Jun 2010] Expression Biased expression in liver (RPKM 46.1), gall bladder (RPKM 13.1) and 4 other tissues See more
CES2, Official Symbol CES2provided by HGNC Official Full Name carboxylesterase 2provided by HGNC Primary source HGNC:HGNC:1864 See related Ensembl:ENSG00000172831 MIM:605278; AllianceGenome:HGNC:1864 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 iCE; CE-2; PCE-2; CES2A1 Summary This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] Expression Biased expression in duodenum (RPKM 209.7), small intestine (RPKM 176.0) and 8 other tissues See more Orthologs all
CES3, Official Symbol CES3provided by HGNC Official Full Name carboxylesterase 3provided by HGNC Primary source HGNC:HGNC:1865 See related Ensembl:ENSG00000172828 MIM:605279; AllianceGenome:HGNC:1865 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 ES31 Summary This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010] Expression Biased expression in colon (RPKM 13.6), duodenum (RPKM 11.5) and 6 other tissues See more Orthologs mouse all
CES4A, Official Symbol CES4Aprovided by HGNC Official Full Name carboxylesterase 4Aprovided by HGNC Primary source HGNC:HGNC:26741 See related Ensembl:ENSG00000172824 AllianceGenome:HGNC:26741 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 CES6; CES8 Summary This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010] Expression Broad expression in skin (RPKM 14.9), brain (RPKM 5.0) and 21 other tissues See more Orthologs mouse all
CES5A, Official Symbol CES5Aprovided by HGNC Official Full Name carboxylesterase 5Aprovided by HGNC Primary source HGNC:HGNC:26459 See related Ensembl:ENSG00000159398 MIM:618678; AllianceGenome:HGNC:26459 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 CES5; CES7; CAUXIN; CES4C1; HEL126 Summary This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] Expression Biased expression in liver (RPKM 1.9), gall bladder (RPKM 0.7) and 3 other tissues See more Orthologs mouse all
CETN1, Official Symbol CETN1provided by HGNC Official Full Name centrin 1provided by HGNC Primary source HGNC:HGNC:1866 See related Ensembl:ENSG00000177143 MIM:603187; AllianceGenome:HGNC:1866 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 CEN1; CETN Summary The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jan 2015] Orthologs mouse all
CETN2, Official Symbol CETN2provided by HGNC Official Full Name centrin 2provided by HGNC Primary source HGNC:HGNC:1867 See related Ensembl:ENSG00000147400 MIM:300006; AllianceGenome:HGNC:1867 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 CALT; CEN2 Summary Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 47.2), endometrium (RPKM 42.4) and 25 other tissues See more Orthologs mouse all
CETN3, Official Symbol CETN3provided by HGNC Official Full Name centrin 3provided by HGNC Primary source HGNC:HGNC:1868 See related Ensembl:ENSG00000153140 MIM:602907; AllianceGenome:HGNC:1868 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 CEN3; CDC31 Summary The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Broad expression in testis (RPKM 62.8), adrenal (RPKM 10.5) and 21 other tissues See more Orthologs mouse all
CETN4P, Official Symbol CETN4Pprovided by HGNC Official Full Name centrin 4, pseudogeneprovided by HGNC Primary source HGNC:HGNC:35450 See related AllianceGenome:HGNC:35450 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Centrins are members of the calcium-binding EF-hand protein superfamily and accumulate in centrosomes. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008] Expression Biased expression in testis (RPKM 7.8), fat (RPKM 2.6) and 5 other tissues See more
CETP, Official Symbol CETPprovided by HGNC Official Full Name cholesteryl ester transfer proteinprovided by HGNC Primary source HGNC:HGNC:1869 See related Ensembl:ENSG00000087237 MIM:118470; AllianceGenome:HGNC:1869 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 BPIFF; HDLCQ10 Summary The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] Expression Biased expression in spleen (RPKM 19.4), fat (RPKM 13.4) and 8 other tissues See more Orthologs all
CFAP100, Official Symbol CFAP100provided by HGNC Official Full Name cilia and flagella associated protein 100provided by HGNC Primary source HGNC:HGNC:26842 See related Ensembl:ENSG00000163885 AllianceGenome:HGNC:26842 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 MIA1; CCDC37 Summary Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.6) and lung (RPKM 1.4) See more Orthologs mouse all
CFAP126, Official Symbol CFAP126provided by HGNC Official Full Name cilia and flagella associated protein 126provided by HGNC Primary source HGNC:HGNC:32325 See related Ensembl:ENSG00000188931 MIM:616119; AllianceGenome:HGNC:32325 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 Fltp; Flattop; C1orf192 Summary Predicted to be involved in cilium organization. Predicted to be located in apical plasma membrane and cilium. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 108.4), fat (RPKM 105.1) and 25 other tissues See more Orthologs mouse all
CFAP157, Official Symbol CFAP157provided by HGNC Official Full Name cilia and flagella associated protein 157provided by HGNC Primary source HGNC:HGNC:27843 See related Ensembl:ENSG00000160401 AllianceGenome:HGNC:27843 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 C9orf117 Summary Predicted to enable microtubule binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 5.7), testis (RPKM 4.4) and 10 other tissues See more Orthologs mouse all
CFAP161, Official Symbol CFAP161provided by HGNC Official Full Name cilia and flagella associated protein 161provided by HGNC Primary source HGNC:HGNC:26782 See related Ensembl:ENSG00000156206 AllianceGenome:HGNC:26782 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 C15orf26 Expression Biased expression in testis (RPKM 2.9), lung (RPKM 0.8) and 2 other tissues See more Orthologs mouse all
CFAP20, Official Symbol CFAP20provided by HGNC Official Full Name cilia and flagella associated protein 20provided by HGNC Primary source HGNC:HGNC:29523 See related Ensembl:ENSG00000070761 MIM:617906; AllianceGenome:HGNC:29523 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 GTL3; BUG22; EVORF; fSAP23; C16orf80 Summary Enables RNA binding activity. Involved in several processes, including positive regulation of feeding behavior; protein polyglutamylation; and regulation of cell motility. Located in centriole; ciliary basal body; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 19.9), placenta (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
CFAP206, Official Symbol CFAP206provided by HGNC Official Full Name cilia and flagella associated protein 206provided by HGNC Primary source HGNC:HGNC:21405 See related Ensembl:ENSG00000272514 AllianceGenome:HGNC:21405 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 C6orf165; dJ382I10.1 Summary Predicted to be involved in regulation of cilium beat frequency; regulation of flagellated sperm motility; and sperm axoneme assembly. Predicted to be located in motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. Predicted to colocalize with A axonemal microtubule. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 41.8) See more Orthologs mouse all
CFAP20DC, Official Symbol CFAP20DCprovided by HGNC Official Full Name CFAP20 domain containingprovided by HGNC Primary source HGNC:HGNC:24763 See related Ensembl:ENSG00000163689 AllianceGenome:HGNC:24763 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 C3orf67 Expression Biased expression in testis (RPKM 5.2), esophagus (RPKM 1.3) and 1 other tissue See more Orthologs mouse all
CFAP20DC-AS1, Official Symbol CFAP20DC-AS1provided by HGNC Official Full Name CFAP20DC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41063 See related Ensembl:ENSG00000242428 AllianceGenome:HGNC:41063 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 C3orf67-AS1 Expression Low expression observed in reference dataset See more
CFAP221, Official Symbol CFAP221provided by HGNC Official Full Name cilia and flagella associated protein 221provided by HGNC Primary source HGNC:HGNC:33720 See related Ensembl:ENSG00000163075 MIM:618704; AllianceGenome:HGNC:33720 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 PCDP1; FAP221 Summary Predicted to enable calmodulin binding activity. Predicted to be involved in cilium assembly. Predicted to act upstream of or within cerebrospinal fluid circulation; motile cilium assembly; and mucociliary clearance. Predicted to be located in axoneme; extracellular region; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.5), lung (RPKM 1.6) and 9 other tissues See more Orthologs mouse all
CFAP251, Official Symbol CFAP251provided by HGNC Official Full Name cilia and flagella associated protein 251provided by HGNC Primary source HGNC:HGNC:28506 See related Ensembl:ENSG00000158023 MIM:618146; AllianceGenome:HGNC:28506 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 WDR66; SPGF33; CaM-IP4 Summary This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Biased expression in testis (RPKM 11.6), thyroid (RPKM 2.6) and 5 other tissues See more Orthologs mouse all
CFAP298, Official Symbol CFAP298provided by HGNC Official Full Name cilia and flagella associated protein 298provided by HGNC Primary source HGNC:HGNC:1301 See related Ensembl:ENSG00000159079 MIM:615494; AllianceGenome:HGNC:1301 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 Kur; FBB18; CILD26; DNAAF16; C21orf48; C21orf59 Summary This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in testis (RPKM 33.6), kidney (RPKM 20.7) and 25 other tissues See more Orthologs mouse all
CFAP298-TCP10L, Official Symbol CFAP298-TCP10Lprovided by HGNC Official Full Name CFAP298-TCP10L readthroughprovided by HGNC Primary source HGNC:HGNC:54636 See related Ensembl:ENSG00000265590 AllianceGenome:HGNC:54636 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 C21orf77; LINC00846; C21orf59-TCP10L Summary This locus represents naturally occurring readthrough transcription between the neighboring chromosome 21 open reading frame 59 (C21orf59) and TCP10L (t-complex 10 like) genes on chromosome 21. Readthrough transcripts may encode a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]
CFAP299, Official Symbol CFAP299provided by HGNC Official Full Name cilia and flagella associated protein 299provided by HGNC Primary source HGNC:HGNC:28554 See related Ensembl:ENSG00000197826 AllianceGenome:HGNC:28554 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 C4orf22 Summary Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.7) See more Orthologs mouse all