| TTC37 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TTC37 , KIAA0372, Ski3, THES, tetratricopeptide repeat domain 37 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614589 MGI: 2679923 HomoloGene: 40966 GeneCards: TTC37 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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TTC37 (Tetratricopeptide repeat domain 37) is a protein which in humans is encoded by gene TTC37, located on chromosome 5. [5] [6]
The length of the polypeptide chain is 1,564 amino acids, and the molecular weight is 175,486 Da. [6] TTC37 contains six tetratricopeptide repeat domains. [6]
TTC37 is a component of the Ski complex which is involved in exosome mediated RNA decay. [7]
It is localized in the cytoplasmatic space and the cell nucleus. [5]
Mutation in the TTC37 gene are associated with tricho-hepato-enteric syndrome. [8] [9]
RoXaN also known as ZC3H7B, is a protein that in humans is encoded by the ZC3H7B gene. RoXaN is a protein that contains tetratricopeptide repeat and leucine-aspartate repeat as well as zinc finger domains. This protein also interacts with the rotavirus non-structural protein NSP3.
AladinTM, also known as adracalin, is a nuclear envelope protein that in humans is encoded by the AAAS gene. It is named after the achalasia–addisonianism–alacrima syndrome which occurs when the gene is mutated.
Exosome component 10, also known as EXOSC10, is a human gene, the protein product of which is part of the exosome complex and is an autoantigen is patients with certain auto immune diseases, most notably scleromyositis.
DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.
Exosome component 9, also known as EXOSC9, is a human gene, the protein product of which is part of the exosome complex and is an autoantigen is patients with certain auto immune diseases, most notably scleromyositis.
DnaJ homolog subfamily C member 3 is a protein that in humans is encoded by the DNAJC3 gene.
Helicase SKI2W is an enzyme that in humans is encoded by the SKIV2L gene. This enzyme is a human homologue of yeast SKI2, which may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. The SKIV2L gene is located in the class III region of the major histocompatibility complex.
Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.
Tetratricopeptide repeat protein 1 is a protein that in humans is encoded by the TTC1 gene.
Tetratricopeptide repeat protein 3 is a protein that in humans is encoded by the TTC3 gene.
Tetratricopeptide repeat protein 35 is a protein that in humans is encoded by the TTC35 gene.
Interferon-induced protein with tetratricopeptide repeats 3 is a protein that in humans is encoded by the IFIT3 gene.
Tetratricopeptide repeat protein 4 is a protein that in humans is encoded by the TTC4 gene.
Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities. Many also have liver disease and abnormalities of the immune system. The associated malabsorption leads to malnutrition and failure to thrive.
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.
Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.
Tetratricopeptide repeat 39A is a human protein encoded by the TTC39A gene. TTC39A is also known as DEME-6, KIAA0452, and c1orf34. The function of TTC39A is currently not well understood. The main feature within tetratricopeptide repeat 39A is the domain of unknown function 3808 (DUF3808), spanning almost the entire protein. KIAA0452 can also be seen as an isoform of TTC39A because of differences in genome sequence, but overlap in DUF domain.
Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the TTC7A gene.
Tetratricopeptide repeat protein 39B is a protein that in humans is encoded by the TTC39B gene. TTC39B is also known as C9orf52 or FLJ33868. The main feature within tetratricopeptide repeat 39B is the domain of unknown function 3808 (DUF3808), spanning the majority of the protein.
Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.
