psui3905/ncbi_genes_summary huggingface dataset:
CTBS, Official Symbol CTBSprovided by HGNC Official Full Name chitobiaseprovided by HGNC Primary source HGNC:HGNC:2496 See related Ensembl:ENSG00000117151 MIM:600873; AllianceGenome:HGNC:2496 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 CTB Summary Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in prostate (RPKM 12.0), liver (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
CTC-338M12.4, Gene symbol CTC-338M12.4 Gene description uncharacterized LOC101928649 See related Ensembl:ENSG00000233937 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 thyroid (RPKM 5.0), endometrium (RPKM 4.7) and 25 other tissues See more
CTC1, Official Symbol CTC1provided by HGNC Official Full Name CST telomere replication complex component 1provided by HGNC Primary source HGNC:HGNC:26169 See related Ensembl:ENSG00000178971 MIM:613129; AllianceGenome:HGNC:26169 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 CRMCC; AAF132; AAF-132; C17orf68; tmp494178 Summary This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in lymph node (RPKM 10.4), spleen (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
CTCF, Official Symbol CTCFprovided by HGNC Official Full Name CCCTC-binding factorprovided by HGNC Primary source HGNC:HGNC:13723 See related Ensembl:ENSG00000102974 MIM:604167; AllianceGenome:HGNC:13723 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 MRD21; FAP108; CFAP108 Summary This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in lymph node (RPKM 18.3), spleen (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
CTD-2154B17.1, Gene symbol CTD-2154B17.1 Gene description uncharacterized CTD-2154B17.1 Gene type ncRNA RefSeq status MODEL 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
CTD-2194D22.4, Gene symbol CTD-2194D22.4 Gene description uncharacterized LOC101929081 See related Ensembl:ENSG00000249326 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
CTD-2350J17.1, Gene symbol CTD-2350J17.1 Gene description uncharacterized LOC101929472 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.6) See more
CTDNEP1, Official Symbol CTDNEP1provided by HGNC Official Full Name CTD nuclear envelope phosphatase 1provided by HGNC Primary source HGNC:HGNC:19085 See related Ensembl:ENSG00000175826 MIM:610684; AllianceGenome:HGNC:19085 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 NET56; DULLARD; HSA011916 Summary Enables protein serine/threonine phosphatase activity. Involved in several processes, including positive regulation of triglyceride biosynthetic process; protein dephosphorylation; and protein localization to nucleus. Located in endoplasmic reticulum membrane; lipid droplet; and nuclear membrane. Part of Nem1-Spo7 phosphatase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 30.6), appendix (RPKM 29.9) and 25 other tissues See more Orthologs mouse all
CTDP1, Official Symbol CTDP1provided by HGNC Official Full Name CTD phosphatase subunit 1provided by HGNC Primary source HGNC:HGNC:2498 See related Ensembl:ENSG00000060069 MIM:604927; AllianceGenome:HGNC:2498 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 FCP1; CCFDN Summary This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in testis (RPKM 8.7), colon (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
CTDSP1, Official Symbol CTDSP1provided by HGNC Official Full Name CTD small phosphatase 1provided by HGNC Primary source HGNC:HGNC:21614 See related Ensembl:ENSG00000144579 MIM:605323; AllianceGenome:HGNC:21614 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 NIF3; SCP1; NLIIF; NLI-IF Summary This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in placenta (RPKM 26.9), ovary (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
CTDSP2, Official Symbol CTDSP2provided by HGNC Official Full Name CTD small phosphatase 2provided by HGNC Primary source HGNC:HGNC:17077 See related Ensembl:ENSG00000175215 MIM:608711; AllianceGenome:HGNC:17077 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 OS4; PSR2; SCP2 Summary Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in protein dephosphorylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 63.4), ovary (RPKM 53.0) and 25 other tissues See more Orthologs mouse all
CTDSPL, Official Symbol CTDSPLprovided by HGNC Official Full Name CTD small phosphatase likeprovided by HGNC Primary source HGNC:HGNC:16890 See related Ensembl:ENSG00000144677 MIM:608592; AllianceGenome:HGNC:16890 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 PSR1; SCP3; HYA22; RBSP3; C3orf8 Summary Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in protein dephosphorylation. Predicted to act upstream of or within negative regulation of G1/S transition of mitotic cell cycle and negative regulation of protein phosphorylation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 20.1), gall bladder (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
CTDSPL2, Official Symbol CTDSPL2provided by HGNC Official Full Name CTD small phosphatase like 2provided by HGNC Primary source HGNC:HGNC:26936 See related Ensembl:ENSG00000137770 MIM:618739; AllianceGenome:HGNC:26936 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 SCP4; HSPC058; HSPC129 Summary Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to act upstream of or within negative regulation of BMP signaling pathway; positive regulation of protein export from nucleus; and protein dephosphorylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 7.7), testis (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
CTF1, Official Symbol CTF1provided by HGNC Official Full Name cardiotrophin 1provided by HGNC Primary source HGNC:HGNC:2499 See related Ensembl:ENSG00000150281 MIM:600435; AllianceGenome:HGNC:2499 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 CT1; CT-1 Summary The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Broad expression in ovary (RPKM 6.4), heart (RPKM 3.8) and 20 other tissues See more Orthologs mouse all
CTF2P, Official Symbol CTF2Pprovided by HGNC Official Full Name cardiotrophin 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:33173 See related Ensembl:ENSG00000230447 AllianceGenome:HGNC:33173 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 NP Summary The cytokine neuropoietin belongs to the IL-6 superfamily. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Mar 2013] Annotation information Note: This pseudogene, based on AY518206.1 and previously associated with GeneID:647088, was misannotated on chromosome 16 in NCBI assembly (Annotation Release 104). AY518206.1 was determined to align to another location on chromosome 16, represented by GeneID:100289419. [17 Jun 2014]
CTH, Official Symbol CTHprovided by HGNC Official Full Name cystathionine gamma-lyaseprovided by HGNC Primary source HGNC:HGNC:2501 See related Ensembl:ENSG00000116761 MIM:607657; AllianceGenome:HGNC:2501 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 CGL; CSE Summary This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] Expression Biased expression in liver (RPKM 17.3), adrenal (RPKM 4.0) and 12 other tissues See more Orthologs mouse all
CTHRC1, Official Symbol CTHRC1provided by HGNC Official Full Name collagen triple helix repeat containing 1provided by HGNC Primary source HGNC:HGNC:18831 See related Ensembl:ENSG00000164932 MIM:610635; AllianceGenome:HGNC:18831 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] Expression Biased expression in gall bladder (RPKM 34.5), urinary bladder (RPKM 33.4) and 12 other tissues See more Orthologs mouse all
CTHRC1P1, Official Symbol CTHRC1P1provided by HGNC Official Full Name collagen triple helix repeat containing 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50463 See related Ensembl:ENSG00000271005 AllianceGenome:HGNC:50463 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CTIF, Official Symbol CTIFprovided by HGNC Official Full Name cap binding complex dependent translation initiation factorprovided by HGNC Primary source HGNC:HGNC:23925 See related Ensembl:ENSG00000134030 MIM:613178; AllianceGenome:HGNC:23925 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 Gm672; KIAA0427 Summary CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009] Expression Ubiquitous expression in fat (RPKM 23.6), brain (RPKM 13.3) and 22 other tissues See more Orthologs mouse all
CTLA4, Official Symbol CTLA4provided by HGNC Official Full Name cytotoxic T-lymphocyte associated protein 4provided by HGNC Primary source HGNC:HGNC:2505 See related Ensembl:ENSG00000163599 MIM:123890; AllianceGenome:HGNC:2505 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 CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3 Summary This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 10.3), appendix (RPKM 9.7) and 8 other tissues See more Orthologs mouse all
CTNNA1, Official Symbol CTNNA1provided by HGNC Official Full Name catenin alpha 1provided by HGNC Primary source HGNC:HGNC:2509 See related Ensembl:ENSG00000044115 MIM:116805; AllianceGenome:HGNC:2509 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 MDBS2; MDPT2; CAP102 Summary This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Expression Ubiquitous expression in esophagus (RPKM 69.8), lung (RPKM 58.9) and 25 other tissues See more Orthologs mouse all
CTNNA1P1, Official Symbol CTNNA1P1provided by HGNC Official Full Name catenin alpha 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:2513 See related AllianceGenome:HGNC:2513 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 CTNNAP1
CTNNA2, Official Symbol CTNNA2provided by HGNC Official Full Name catenin alpha 2provided by HGNC Primary source HGNC:HGNC:2510 See related Ensembl:ENSG00000066032 MIM:114025; AllianceGenome:HGNC:2510 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 CAPR; CTNR; CAP-R; CT114; CDCBM9 Summary Enables actin filament binding activity. Involved in negative regulation of Arp2/3 complex-mediated actin nucleation; regulation of neuron migration; and regulation of neuron projection development. Located in cytoplasm. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 26.7), testis (RPKM 6.2) and 1 other tissue See more Orthologs mouse all
CTNNA3, Official Symbol CTNNA3provided by HGNC Official Full Name catenin alpha 3provided by HGNC Primary source HGNC:HGNC:2511 See related Ensembl:ENSG00000183230 MIM:607667; AllianceGenome:HGNC:2511 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 VR22; ARVD13 Summary This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Biased expression in heart (RPKM 5.0), brain (RPKM 1.3) and 5 other tissues See more Orthologs mouse all
CTNNAL1, Official Symbol CTNNAL1provided by HGNC Official Full Name catenin alpha like 1provided by HGNC Primary source HGNC:HGNC:2512 See related Ensembl:ENSG00000119326 MIM:604785; AllianceGenome:HGNC:2512 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 ACRP; CLLP; alpha-CATU Summary Predicted to enable actin filament binding activity and cadherin binding activity. Acts upstream of or within Rho protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 101.6), ovary (RPKM 57.7) and 22 other tissues See more Orthologs mouse all
CTNNBIP1, Official Symbol CTNNBIP1provided by HGNC Official Full Name catenin beta interacting protein 1provided by HGNC Primary source HGNC:HGNC:16913 See related Ensembl:ENSG00000178585 MIM:607758; AllianceGenome:HGNC:16913 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 ICAT Summary The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 77.0), esophagus (RPKM 25.4) and 24 other tissues See more Orthologs mouse all
CTNNBL1, Official Symbol CTNNBL1provided by HGNC Official Full Name catenin beta like 1provided by HGNC Primary source HGNC:HGNC:15879 See related Ensembl:ENSG00000132792 MIM:611537; AllianceGenome:HGNC:15879 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 NAP; P14L; IMD99; PP8304; C20orf33; dJ633O20.1 Summary The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in spleen (RPKM 24.9), testis (RPKM 22.5) and 25 other tissues See more Orthologs mouse all
CTNNBL1P1, Official Symbol CTNNBL1P1provided by HGNC Official Full Name CTNNBL1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54948 See related Ensembl:ENSG00000231235 AllianceGenome:HGNC:54948 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CTNND1, Official Symbol CTNND1provided by HGNC Official Full Name catenin delta 1provided by HGNC Primary source HGNC:HGNC:2515 See related Ensembl:ENSG00000198561 MIM:601045; AllianceGenome:HGNC:2515 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 CAS; p120; BCDS2; CTNND; P120CAS; P120CTN; p120(CAS); p120(CTN) Summary This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in esophagus (RPKM 79.1), skin (RPKM 62.3) and 24 other tissues See more Orthologs mouse all
CTNND2, Official Symbol CTNND2provided by HGNC Official Full Name catenin delta 2provided by HGNC Primary source HGNC:HGNC:2516 See related Ensembl:ENSG00000169862 MIM:604275; AllianceGenome:HGNC:2516 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 GT24; NPRAP Summary This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] Expression Biased expression in brain (RPKM 42.1) and spleen (RPKM 2.8) See more Orthologs mouse all
CTNS, Official Symbol CTNSprovided by HGNC Official Full Name cystinosin, lysosomal cystine transporterprovided by HGNC Primary source HGNC:HGNC:2518 See related Ensembl:ENSG00000040531 MIM:606272; AllianceGenome:HGNC:2518 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 PQLC4; SLC66A4; CTNS-LSB Summary This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in testis (RPKM 9.6), adrenal (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
CTPS1, Official Symbol CTPS1provided by HGNC Official Full Name CTP synthase 1provided by HGNC Primary source HGNC:HGNC:2519 See related Ensembl:ENSG00000171793 MIM:123860; AllianceGenome:HGNC:2519 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 CTPS; GATD5; IMD24; GATD5A Summary This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in endometrium (RPKM 10.6), testis (RPKM 9.2) and 24 other tissues See more Orthologs mouse all
CTPS2, Official Symbol CTPS2provided by HGNC Official Full Name CTP synthase 2provided by HGNC Primary source HGNC:HGNC:2520 See related Ensembl:ENSG00000047230 MIM:300380; AllianceGenome:HGNC:2520 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 GATD5B Summary The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in ovary (RPKM 4.6), duodenum (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
CTR9, Official Symbol CTR9provided by HGNC Official Full Name CTR9 homolog, Paf1/RNA polymerase II complex componentprovided by HGNC Primary source HGNC:HGNC:16850 See related Ensembl:ENSG00000198730 MIM:609366; AllianceGenome:HGNC:16850 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 TSBP; p150; SH2BP1; p150TSP Summary The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in testis (RPKM 19.1), thyroid (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
CTRB1, Official Symbol CTRB1provided by HGNC Official Full Name chymotrypsinogen B1provided by HGNC Primary source HGNC:HGNC:2521 See related Ensembl:ENSG00000168925 MIM:118890; AllianceGenome:HGNC:2521 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 CTRB Summary This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB1 gene is located head-to-head with the related CTRB2 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 in intron 1 of the CTRB2 gene is diagnostic for this inversion. This CTRB1 gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jan 2021] Expression Restricted expression toward pancreas (RPKM 35733.1) See more Orthologs all
CTRB2, Official Symbol CTRB2provided by HGNC Official Full Name chymotrypsinogen B2provided by HGNC Primary source HGNC:HGNC:2522 See related Ensembl:ENSG00000168928 MIM:619620; AllianceGenome:HGNC:2522 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 This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB2 gene is located head-to-head with the related CTRB1 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 is diagnostic for this inversion. [provided by RefSeq, Jan 2021] Expression Restricted expression toward pancreas (RPKM 32305.1) See more Orthologs all
CTRC, Official Symbol CTRCprovided by HGNC Official Full Name chymotrypsin Cprovided by HGNC Primary source HGNC:HGNC:2523 See related Ensembl:ENSG00000162438 MIM:601405; AllianceGenome:HGNC:2523 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 CLCR; ELA4 Summary This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Expression Restricted expression toward pancreas (RPKM 2413.6) See more Orthologs all
CTRL, Official Symbol CTRLprovided by HGNC Official Full Name chymotrypsin likeprovided by HGNC Primary source HGNC:HGNC:2524 See related Ensembl:ENSG00000141086 MIM:118888; AllianceGenome:HGNC:2524 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 CTRL1 Summary This gene encodes a serine-type endopeptidase with chymotrypsin- and elastase-2-like activities. The gene encoding this zymogen is expressed specifically in the pancreas and likely functions as a digestive enzyme. [provided by RefSeq, Sep 2016] Expression Restricted expression toward pancreas (RPKM 884.9) See more Orthologs mouse all
CTSA, Official Symbol CTSAprovided by HGNC Official Full Name cathepsin Aprovided by HGNC Primary source HGNC:HGNC:9251 See related Ensembl:ENSG00000064601 MIM:613111; AllianceGenome:HGNC:9251 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 GSL; GLB2; NGBE; PPCA; PPGB Summary This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in adrenal (RPKM 65.7), kidney (RPKM 65.3) and 25 other tissues See more Orthologs mouse all
CTSB, Official Symbol CTSBprovided by HGNC Official Full Name cathepsin Bprovided by HGNC Primary source HGNC:HGNC:2527 See related Ensembl:ENSG00000164733 MIM:116810; AllianceGenome:HGNC:2527 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 KWE; APPS; CPSB; RECEUP Summary This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Broad expression in thyroid (RPKM 602.1), appendix (RPKM 198.7) and 21 other tissues See more Orthologs mouse all
CTSC, Official Symbol CTSCprovided by HGNC Official Full Name cathepsin Cprovided by HGNC Primary source HGNC:HGNC:2528 See related Ensembl:ENSG00000109861 MIM:602365; AllianceGenome:HGNC:2528 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 JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; DPP-I; PDON1 Summary This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015] Expression Broad expression in placenta (RPKM 28.5), lung (RPKM 26.8) and 24 other tissues See more Orthologs mouse all
CTSD, Official Symbol CTSDprovided by HGNC Official Full Name cathepsin Dprovided by HGNC Primary source HGNC:HGNC:2529 See related Ensembl:ENSG00000117984 MIM:116840; AllianceGenome:HGNC:2529 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 CPSD; CLN10; HEL-S-130P Summary This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in lung (RPKM 302.1), kidney (RPKM 273.0) and 25 other tissues See more Orthologs mouse all
CTSE, Official Symbol CTSEprovided by HGNC Official Full Name cathepsin Eprovided by HGNC Primary source HGNC:HGNC:2530 See related Ensembl:ENSG00000196188 MIM:116890; AllianceGenome:HGNC:2530 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 CATE Summary This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015] Expression Biased expression in stomach (RPKM 543.0) and duodenum (RPKM 112.5) See more Orthologs mouse all
CTSF, Official Symbol CTSFprovided by HGNC Official Full Name cathepsin Fprovided by HGNC Primary source HGNC:HGNC:2531 See related Ensembl:ENSG00000174080 MIM:603539; AllianceGenome:HGNC:2531 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 CATSF; CLN13 Summary Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 64.5), testis (RPKM 55.5) and 24 other tissues See more Orthologs mouse all
CTSG, Official Symbol CTSGprovided by HGNC Official Full Name cathepsin Gprovided by HGNC Primary source HGNC:HGNC:2532 See related Ensembl:ENSG00000100448 MIM:116830; AllianceGenome:HGNC:2532 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 CG; CATG Summary The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014] Expression Restricted expression toward bone marrow (RPKM 1559.4) See more Orthologs mouse all
CTSH, Official Symbol CTSHprovided by HGNC Official Full Name cathepsin Hprovided by HGNC Primary source HGNC:HGNC:2535 See related Ensembl:ENSG00000103811 MIM:116820; AllianceGenome:HGNC:2535 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 ACC4; ACC5; CPSB; ACC-4; ACC-5 Summary The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Expression Broad expression in lung (RPKM 144.1), kidney (RPKM 97.7) and 24 other tissues See more Orthologs mouse all
CTSK, Official Symbol CTSKprovided by HGNC Official Full Name cathepsin Kprovided by HGNC Primary source HGNC:HGNC:2536 See related Ensembl:ENSG00000143387 MIM:601105; AllianceGenome:HGNC:2536 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 CTSO; PKND; PYCD; CTS02; CTSO1; CTSO2 Summary The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013] Expression Broad expression in gall bladder (RPKM 190.4), urinary bladder (RPKM 132.0) and 15 other tissues See more Orthologs mouse all