C7orf31
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Chromosome Seven Open Reading Frame 31 (C7orf31) is a protein that in humans is encoded by the C7orf31 gene on chromosome seven.[5]
| C7orf31 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C7orf31, chromosome 7 open reading frame 31 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 616071; MGI: 1918071; HomoloGene: 69433; GeneCards: C7orf31; OMA:C7orf31 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene/Locus
In humans, the C7orf31 gene is located at the locus 7p15.3 [5] and stretches between position 25174316 and 25219817 (span 45502 bp).[6] It codes for at least 4 unique human isoforms: the primary isoform (590 aa; also denoted X1, X2, and CRA_c),[7][8][9] isoform X4 (346 aa),[10] isoform CRA_a (580 aa),[11] and isoform CRA_b (380 aa).[12]
Transcript
In humans, C7orf31 codes for an mRNA strand that is 3609 base pairs long. The human mRNA is composed of a 5' untranslated region that is 561 bases and a 3' untranslated region that is 1275 bases long.[13]
Protein
The primary protein encoded by C7orf31 in humans is 590 amino acids long with molecular weight 38334 Da.[5] The protein is part of a functionally uncharacterized family of proteins (pfam15093) with a domain of unknown function (DUF4555).[14]
Protein Orthology
Expression
In humans, C7orf31 is predicted to be localized in the cytosol, nucleus, mitochondrion, and peroxisome, and it is expressed in almost all tissues.[16] It is highly expressed especially in the testes.[17]
Interaction
Two-hybrid studies have found interactions between the proteins encoded by A8K5H9 and C7orf31,[18] and another study has found the protein to interact with KBTBD5.[19]
A study in 2014 found C7orf31 to be a candidate as a centrosome-associated protein, using mass spectrometry on mammalian sperm cells’ centrioles. The protein appears in the study alongside seven other centrosome-associated protein candidates.[20] Along with 2241 other proteins, C7orf31 also exhibited significant binding in a microarray experiment to β-amyloids, a group of proteins associated with Alzheimer's disease.[21] Finally, in a protein-protein interaction network study,[22] C7orf31 was found to associate with KLHL40, whose exact function is also not known.[23]
