psui3905/ncbi_genes_summary huggingface dataset:
KMT2D, Official Symbol KMT2Dprovided by HGNC Official Full Name lysine methyltransferase 2Dprovided by HGNC Primary source HGNC:HGNC:7133 See related Ensembl:ENSG00000167548 MIM:602113; AllianceGenome:HGNC:7133 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 ALR; KMS; MLL2; MLL4; AAD10; BCAHH; KABUK1; TNRC21; CAGL114 Summary The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in bone marrow (RPKM 10.0), skin (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
KMT2E, Official Symbol KMT2Eprovided by HGNC Official Full Name lysine methyltransferase 2E (inactive)provided by HGNC Primary source HGNC:HGNC:18541 See related Ensembl:ENSG00000005483 MIM:608444; AllianceGenome:HGNC:18541 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 MLL5; NKp44L; ODLURO; SETD5B; HDCMC04P Summary This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 19.1), endometrium (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
KMT5A, Official Symbol KMT5Aprovided by HGNC Official Full Name lysine methyltransferase 5Aprovided by HGNC Primary source HGNC:HGNC:29489 See related Ensembl:ENSG00000183955 MIM:607240; AllianceGenome:HGNC:29489 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 SET8; SET07; SETD8; PR-Set7; PR/SET07 Summary The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016] Expression Ubiquitous expression in prostate (RPKM 17.6), esophagus (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
KMT5AP2, Official Symbol KMT5AP2provided by HGNC Official Full Name KMT5A pseudogene 2provided by HGNC Primary source HGNC:HGNC:54727 See related Ensembl:ENSG00000232531 AllianceGenome:HGNC:54727 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KMT5AP3, Official Symbol KMT5AP3provided by HGNC Official Full Name KMT5A pseudogene 3provided by HGNC Primary source HGNC:HGNC:54728 See related Ensembl:ENSG00000242583 AllianceGenome:HGNC:54728 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KMT5B, Official Symbol KMT5Bprovided by HGNC Official Full Name lysine methyltransferase 5Bprovided by HGNC Primary source HGNC:HGNC:24283 See related Ensembl:ENSG00000110066 MIM:610881; AllianceGenome:HGNC:24283 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 CGI85; MRD51; CGI-85; SUV420H1 Summary This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in thyroid (RPKM 12.1), endometrium (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
KMT5C, Official Symbol KMT5Cprovided by HGNC Official Full Name lysine methyltransferase 5Cprovided by HGNC Primary source HGNC:HGNC:28405 See related Ensembl:ENSG00000133247 MIM:613198; AllianceGenome:HGNC:28405 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 SUV420H2; Suv4-20h2 Summary SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009] Expression Ubiquitous expression in bone marrow (RPKM 1.9), placenta (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
KNCN, Official Symbol KNCNprovided by HGNC Official Full Name kinocilinprovided by HGNC Primary source HGNC:HGNC:26488 See related Ensembl:ENSG00000162456 MIM:611455; AllianceGenome:HGNC:26488 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 L5; Kino Summary Predicted to be located in apical part of cell; cytoplasm; and microtubule cytoskeleton. Predicted to be active in several cellular components, including apical plasma membrane; cytoskeleton; and kinocilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
KNDC1, Official Symbol KNDC1provided by HGNC Official Full Name kinase non-catalytic C-lobe domain containing 1provided by HGNC Primary source HGNC:HGNC:29374 See related Ensembl:ENSG00000171798 MIM:616237; AllianceGenome:HGNC:29374 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 v-KIND; RASGEF2; C10orf23; Very-KIND; bB439H18.3 Summary The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016] Expression Biased expression in brain (RPKM 6.5), ovary (RPKM 2.2) and 6 other tissues See more Orthologs mouse all
KNG1, Official Symbol KNG1provided by HGNC Official Full Name kininogen 1provided by HGNC Primary source HGNC:HGNC:6383 See related Ensembl:ENSG00000113889 MIM:612358; AllianceGenome:HGNC:6383 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 BK; HK; BDK; KNG; HAE6; HMWK Summary This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reduces or depletes angiotensin converting enzyme 2 (ACE2), which results in an increase in levels of des-Arg(9)-bradykinin, a bioactive metabolite of bradykinin that is associated with lung injury and inflammation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Restricted expression toward liver (RPKM 432.8) See more Orthologs all
KNL1, Official Symbol KNL1provided by HGNC Official Full Name kinetochore scaffold 1provided by HGNC Primary source HGNC:HGNC:24054 See related Ensembl:ENSG00000137812 MIM:609173; AllianceGenome:HGNC:24054 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 D40; CT29; Spc7; CASC5; MCPH4; hKNL-1; AF15Q14; PPP1R55; hSpc105 Summary The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] Expression Biased expression in testis (RPKM 14.1), bone marrow (RPKM 2.9) and 6 other tissues See more Orthologs mouse all
KNOP1, Official Symbol KNOP1provided by HGNC Official Full Name lysine rich nucleolar protein 1provided by HGNC Primary source HGNC:HGNC:34404 See related Ensembl:ENSG00000103550 AllianceGenome:HGNC:34404 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 TSG118; FAM191A; 101F10.1; C16orf88 Summary The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 5.4), placenta (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
KNOP1P1, Official Symbol KNOP1P1provided by HGNC Official Full Name lysine rich nucleolar protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:48919 See related AllianceGenome:HGNC:48919 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KNOP1P2, Official Symbol KNOP1P2provided by HGNC Official Full Name lysine rich nucleolar protein 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:48920 See related Ensembl:ENSG00000270429 AllianceGenome:HGNC:48920 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KNSTRN, Official Symbol KNSTRNprovided by HGNC Official Full Name kinetochore localized astrin (SPAG5) binding proteinprovided by HGNC Primary source HGNC:HGNC:30767 See related Ensembl:ENSG00000128944 MIM:614718; AllianceGenome:HGNC:30767 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 SKAP; HSD11; ROCHIS; C15orf23; TRAF4AF1 Summary Enables microtubule plus-end binding activity and protein homodimerization activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; mitotic sister chromatid segregation; and regulation of attachment of spindle microtubules to kinetochore. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and ruffle. Implicated in actinic keratosis and skin squamous cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 31.0), thyroid (RPKM 17.6) and 23 other tissues See more Orthologs mouse all
KNTC1, Official Symbol KNTC1provided by HGNC Official Full Name kinetochore associated 1provided by HGNC Primary source HGNC:HGNC:17255 See related Ensembl:ENSG00000184445 MIM:607363; AllianceGenome:HGNC:17255 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 ROD Summary This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 11.5), bone marrow (RPKM 8.4) and 22 other tissues See more Orthologs mouse all
KPNA1, Official Symbol KPNA1provided by HGNC Official Full Name karyopherin subunit alpha 1provided by HGNC Primary source HGNC:HGNC:6394 See related Ensembl:ENSG00000114030 MIM:600686; AllianceGenome:HGNC:6394 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 RCH2; SRP1; IPOA5; NPI-1 Summary The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in brain (RPKM 10.0), testis (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
KPNA2, Official Symbol KPNA2provided by HGNC Official Full Name karyopherin subunit alpha 2provided by HGNC Primary source HGNC:HGNC:6395 See related Ensembl:ENSG00000182481 MIM:600685; AllianceGenome:HGNC:6395 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 QIP2; RCH1; IPOA1; PTAC58; SRP1alpha; SRP1-alpha Summary The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 102.8), bone marrow (RPKM 35.5) and 20 other tissues See more Orthologs mouse all
KPNA2P1, Official Symbol KPNA2P1provided by HGNC Official Full Name karyopherin subunit alpha 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52871 See related Ensembl:ENSG00000236530 AllianceGenome:HGNC:52871 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KPNA3, Official Symbol KPNA3provided by HGNC Official Full Name karyopherin subunit alpha 3provided by HGNC Primary source HGNC:HGNC:6396 See related Ensembl:ENSG00000102753 MIM:601892; AllianceGenome:HGNC:6396 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 SRP1; SRP4; IPOA4; SPG88; hSRP1; SRP1gamma Summary The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in testis (RPKM 17.5), brain (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
KPNA4, Official Symbol KPNA4provided by HGNC Official Full Name karyopherin subunit alpha 4provided by HGNC Primary source HGNC:HGNC:6397 See related Ensembl:ENSG00000186432 MIM:602970; AllianceGenome:HGNC:6397 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 QIP1; SRP3; IPOA3 Summary The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 11.7), esophagus (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
KPNA4P1, Official Symbol KPNA4P1provided by HGNC Official Full Name KPNA4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54976 See related Ensembl:ENSG00000213754 AllianceGenome:HGNC:54976 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KPNA5, Official Symbol KPNA5provided by HGNC Official Full Name karyopherin subunit alpha 5provided by HGNC Primary source HGNC:HGNC:6398 See related Ensembl:ENSG00000196911 MIM:604545; AllianceGenome:HGNC:6398 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 SRP6; IPOA6 Summary The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 10.4), ovary (RPKM 8.3) and 24 other tissues See more Orthologs all
KPNA6, Official Symbol KPNA6provided by HGNC Official Full Name karyopherin subunit alpha 6provided by HGNC Primary source HGNC:HGNC:6399 See related Ensembl:ENSG00000025800 MIM:610563; AllianceGenome:HGNC:6399 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 IPOA7 Summary Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 11.5), brain (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
KPNA7, Official Symbol KPNA7provided by HGNC Official Full Name karyopherin subunit alpha 7provided by HGNC Primary source HGNC:HGNC:21839 See related Ensembl:ENSG00000185467 MIM:614107; AllianceGenome:HGNC:21839 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 IPOA8; OZEMA17 Summary The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016] Expression Biased expression in stomach (RPKM 1.6), gall bladder (RPKM 0.1) and 3 other tissues See more Orthologs mouse all
KPNB1, Official Symbol KPNB1provided by HGNC Official Full Name karyopherin subunit beta 1provided by HGNC Primary source HGNC:HGNC:6400 See related Ensembl:ENSG00000108424 MIM:602738; AllianceGenome:HGNC:6400 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 IMB1; IPO1; IPOB; Impnb; NTF97 Summary Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in testis (RPKM 74.8), appendix (RPKM 47.4) and 25 other tissues See more Orthologs mouse all
KPNB1-DT, Official Symbol KPNB1-DTprovided by HGNC Official Full Name KPNB1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55336 See related Ensembl:ENSG00000263766 AllianceGenome:HGNC:55336 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KPNB1P1, Official Symbol KPNB1P1provided by HGNC Official Full Name KPNB1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55029 See related Ensembl:ENSG00000234889 AllianceGenome:HGNC:55029 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KPRP, Official Symbol KPRPprovided by HGNC Official Full Name keratinocyte proline rich proteinprovided by HGNC Primary source HGNC:HGNC:31823 See related Ensembl:ENSG00000203786 MIM:613260; AllianceGenome:HGNC:31823 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 C1orf45 Summary This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016] Expression Restricted expression toward skin (RPKM 105.2) See more Orthologs mouse all
KPTN, Official Symbol KPTNprovided by HGNC Official Full Name kaptin, actin binding proteinprovided by HGNC Primary source HGNC:HGNC:6404 See related Ensembl:ENSG00000118162 MIM:615620; AllianceGenome:HGNC:6404 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 2E4; KICS4; MRT41 Summary This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in bone marrow (RPKM 1.7), testis (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
KRAS, Official Symbol KRASprovided by HGNC Official Full Name KRAS proto-oncogene, GTPaseprovided by HGNC Primary source HGNC:HGNC:6407 See related Ensembl:ENSG00000133703 MIM:190070; AllianceGenome:HGNC:6407 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 NS; NS3; OES; CFC2; RALD; K-Ras; KRAS1; KRAS2; RASK2; KI-RAS; C-K-RAS; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; K-Ras 2; 'C-K-RAS; c-Ki-ras; c-Ki-ras2 Summary This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 7.8), brain (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
KRBA1, Official Symbol KRBA1provided by HGNC Official Full Name KRAB-A domain containing 1provided by HGNC Primary source HGNC:HGNC:22228 See related Ensembl:ENSG00000133619 AllianceGenome:HGNC:22228 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in regulation of transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 3.8), ovary (RPKM 2.4) and 24 other tissues See more Orthologs mouse all
KRBA2, Official Symbol KRBA2provided by HGNC Official Full Name KRAB-A domain containing 2provided by HGNC Primary source HGNC:HGNC:26989 See related Ensembl:ENSG00000184619 AllianceGenome:HGNC:26989 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable nucleic acid binding activity. Predicted to be involved in DNA integration and regulation of transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 2.4), kidney (RPKM 2.0) and 25 other tissues See more Orthologs all
KRBOX1, Official Symbol KRBOX1provided by HGNC Official Full Name KRAB box domain containing 1provided by HGNC Primary source HGNC:HGNC:38708 See related Ensembl:ENSG00000240747 AllianceGenome:HGNC:38708 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in regulation of transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: This gene LOC26172 (GeneID: 26172) was previously annotated as C3orf41, and a chimeric/readthrough mRNA that contained part of the neighboring gene (GeneID: 729085) as well as LOC26172 was associated with this GeneID. The two genes are now represented by separate entries, LOC26172 (GeneID: 26172) and C3orf41 (GeneID: 729085). [13 Feb 2013] Expression Biased expression in testis (RPKM 80.1) and endometrium (RPKM 3.4) See more Orthologs all
KRBOX1-AS1, Official Symbol KRBOX1-AS1provided by HGNC Official Full Name KRBOX1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42942 See related Ensembl:ENSG00000206552 AllianceGenome:HGNC:42942 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 4.5) See more
KRBOX4, Official Symbol KRBOX4provided by HGNC Official Full Name KRAB box domain containing 4provided by HGNC Primary source HGNC:HGNC:26007 See related Ensembl:ENSG00000147121 MIM:300585; AllianceGenome:HGNC:26007 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 ZNF673 Summary This encodes a zinc finger protein with an N-terminal KRAB (Kruppel-associated) domain found in transcriptional repressors. This gene is located in a region of the X chromosome thought to be involved in nonsyndromic X-linked cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in ovary (RPKM 5.3), endometrium (RPKM 5.1) and 25 other tissues See more Orthologs all
KRCC1, Official Symbol KRCC1provided by HGNC Official Full Name lysine rich coiled-coil 1provided by HGNC Primary source HGNC:HGNC:28039 See related Ensembl:ENSG00000172086 AllianceGenome:HGNC:28039 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 CHBP2 Expression Ubiquitous expression in colon (RPKM 25.0), thyroid (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
KREMEN1, Official Symbol KREMEN1provided by HGNC Official Full Name kringle containing transmembrane protein 1provided by HGNC Primary source HGNC:HGNC:17550 See related Ensembl:ENSG00000183762 MIM:609898; AllianceGenome:HGNC:17550 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 KRM1; ECTD13; KREMEN Summary This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Mutations in this gene result in ectodermal dysplasia. This protein has also been found to be a functional receptor for Coxsackievirus A10 and may be an alternative entry receptor for SARS-CoV-2. [provided by RefSeq, Nov 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Ubiquitous expression in skin (RPKM 9.8), esophagus (RPKM 9.6) and 23 other tissues See more Orthologs mouse all
KREMEN2, Official Symbol KREMEN2provided by HGNC Official Full Name kringle containing transmembrane protein 2provided by HGNC Primary source HGNC:HGNC:18797 See related Ensembl:ENSG00000131650 MIM:609899; AllianceGenome:HGNC:18797 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 KRM2 Summary This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in skin (RPKM 2.2), brain (RPKM 0.7) and 7 other tissues See more Orthologs mouse all
KRI1, Official Symbol KRI1provided by HGNC Official Full Name KRI1 homologprovided by HGNC Primary source HGNC:HGNC:25769 See related Ensembl:ENSG00000129347 AllianceGenome:HGNC:25769 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 overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 16.4), lymph node (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
KRIT1, Official Symbol KRIT1provided by HGNC Official Full Name KRIT1 ankyrin repeat containingprovided by HGNC Primary source HGNC:HGNC:1573 See related Ensembl:ENSG00000001631 MIM:604214; AllianceGenome:HGNC:1573 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 CAM; CCM1 Summary This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in testis (RPKM 10.9), thyroid (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
KRR1, Official Symbol KRR1provided by HGNC Official Full Name KRR1 small subunit processome component homologprovided by HGNC Primary source HGNC:HGNC:5176 See related Ensembl:ENSG00000111615 MIM:612817; AllianceGenome:HGNC:5176 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 HRB2; RIP-1 Summary Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in chromosome; intercellular bridge; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 20.3), bone marrow (RPKM 19.6) and 25 other tissues See more Orthologs mouse all
KRR1P1, Official Symbol KRR1P1provided by HGNC Official Full Name KRR1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39580 See related AllianceGenome:HGNC:39580 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KRT1, Official Symbol KRT1provided by HGNC Official Full Name keratin 1provided by HGNC Primary source HGNC:HGNC:6412 See related Ensembl:ENSG00000167768 MIM:139350; AllianceGenome:HGNC:6412 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 K1; CK1; EHK; AEI2; EHK1; EPPK; KRT1A; NEPPK Summary The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 6502.3) See more Orthologs mouse all
KRT10, Official Symbol KRT10provided by HGNC Official Full Name keratin 10provided by HGNC Primary source HGNC:HGNC:6413 See related Ensembl:ENSG00000186395 MIM:148080; AllianceGenome:HGNC:6413 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 BIE; EHK; IHL; K10; KPP; BCIE; CK10; EHK2 Summary This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 7171.9) See more Orthologs mouse all
KRT12, Official Symbol KRT12provided by HGNC Official Full Name keratin 12provided by HGNC Primary source HGNC:HGNC:6414 See related Ensembl:ENSG00000187242 MIM:601687; AllianceGenome:HGNC:6414 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 K12; MECD1 Summary KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
KRT126P, Official Symbol KRT126Pprovided by HGNC Official Full Name keratin 126, pseudogeneprovided by HGNC Primary source HGNC:HGNC:32970 See related AllianceGenome:HGNC:32970 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 KRT
KRT127P, Official Symbol KRT127Pprovided by HGNC Official Full Name keratin 127, pseudogeneprovided by HGNC Primary source HGNC:HGNC:40019 See related AllianceGenome:HGNC:40019 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 KRT3P1
KRT13, Official Symbol KRT13provided by HGNC Official Full Name keratin 13provided by HGNC Primary source HGNC:HGNC:6415 See related Ensembl:ENSG00000171401 MIM:148065; AllianceGenome:HGNC:6415 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 K13; CK13; WSN2 Summary The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] Expression Restricted expression toward esophagus (RPKM 15373.8) See more Orthologs mouse all
KRT14, Official Symbol KRT14provided by HGNC Official Full Name keratin 14provided by HGNC Primary source HGNC:HGNC:6416 See related Ensembl:ENSG00000186847 MIM:148066; AllianceGenome:HGNC:6416 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 K14; NFJ; CK14; EBS1; EBS3; EBS4; EBS1A; EBS1B; EBS1C; EBS1D Summary This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 3550.7) See more Orthologs mouse all
KRT15, Official Symbol KRT15provided by HGNC Official Full Name keratin 15provided by HGNC Primary source HGNC:HGNC:6421 See related Ensembl:ENSG00000171346 MIM:148030; AllianceGenome:HGNC:6421 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 K15; CK15; K1CO Summary The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 317.3), esophagus (RPKM 283.6) and 1 other tissue See more Orthologs mouse all