C7orf31

From Wikipedia, the free encyclopedia
C7orf31
Identifiers
AliasesC7orf31, chromosome 7 open reading frame 31
External IDsOMIM: 616071 MGI: 1918071 HomoloGene: 69433 GeneCards: C7orf31
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_138811
NM_001371351
NM_001371352

NM_027564

RefSeq (protein)

NP_620166
NP_001358280
NP_001358281

NP_081840

Location (UCSC)Chr 7: 25.13 – 25.18 MbChr 6: 50.55 – 50.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome Seven Open Reading Frame 31 (C7orf31) is a protein that in humans is encoded by the C7orf31 gene on chromosome seven.[5]

Gene/Locus[edit]

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[edit]

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[edit]

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[edit]

The C7orf31 protein is well-conserved in mammals and birds, but is less conserved in more distant organisms.[15]

C7orf31 does not have any paralogs in humans.

Expression[edit]

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[edit]

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]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000153790Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029828Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "NCBI Protein".
  6. ^ "UCSC Blat Results".
  7. ^ "NCBI Protein (National Center for Biotechnology Information)".
  8. ^ "NCBI Protein (National Center for Biotechnology Information)".
  9. ^ "NCBI Protein (National Center for Biotechnology Information)".
  10. ^ "NCBI Protein (National Center for Biotechnology Information)".
  11. ^ "NCBI Protein (National Center for Biotechnology Information)".
  12. ^ "NCBI Protein (National Center for Biotechnology Information)".
  13. ^ "NCBI Nucleotide (National Center for Biotechnology Information)". 11 November 2018.
  14. ^ "NCBI Conserved Domains (National Center for Biotechnology Information)".
  15. ^ "NCBI Blast (National Center for Biotechnology Information)".
  16. ^ "Genecards C7orf31".
  17. ^ "NCBI GEO (National Center for Biotechnology Information".
  18. ^ "21 binary interactions found for search term C7orf31". IntAct Molecular Interaction Database. EMBL-EBI. Retrieved 2018-08-25.
  19. ^ "STRING Database".
  20. ^ Firat-Karalar EN, Sante J, Elliott S, Stearns T (October 2014). "Proteomic analysis of mammalian sperm cells identifies new components of the centrosome". Journal of Cell Science. 127 (Pt 19): 4128–33. doi:10.1242/jcs.157008. PMC 4179487. PMID 25074808.
  21. ^ Oláh J, Vincze O, Virók D, Simon D, Bozsó Z, Tõkési N, Horváth I, Hlavanda E, Kovács J, Magyar A, Szũcs M, Orosz F, Penke B, Ovádi J (September 2011). "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry. 286 (39): 34088–100. doi:10.1074/jbc.m111.243907. PMC 3190826. PMID 21832049.
  22. ^ Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, et al. (November 2014). "A proteome-scale map of the human interactome network". Cell. 159 (5): 1212–1226. doi:10.1016/j.cell.2014.10.050. PMC 4266588. PMID 25416956.
  23. ^ "NCBI Gene".

External links[edit]