• Gene id: 116328

Gene Summary

• Gene Symbol: C8orf34   Gene   UCSC   Ensembl
• Aliases: VEST-1, VEST1
• Gene name: chromosome 8 open reading frame 34
• Alternate names: uncharacterized protein C8orf34, protein VEST-1, vestibule-1 protein,
• Gene location: 8q13.2 (68330372: 68819022)     Exons: 16     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients underg

Protein Summary

• Protein general information: Q49A92  
  • Name: Uncharacterized protein C8orf34 (Protein VEST 1)
  • Length: 538  
  • Mass: 59434
• Sequence:

  MSSPLASELSELAALRPGFRLSAPHARVAPRAATHARGRGRASHAGQPRLRSSCPGPSPGKRRVVPSGGAQPRVL
  PALSSRSHLFPMASHPQTRIQAYLEKNKIGPLFEELMTKLITETPDQPIPFLIDHLQSKQGNRGQLQRTLSGSAA
  LWAESEKSESKGTRRDFRSYDKPWQLNAKKPKKSKSDLAVSNISPPSPDSKSLPRSVEHPKWNWRTKPQSRDFDE
  LNHILQESKKLGKALENLSRSIAISDELDKETVTFNSSLLRPRVIGEWIGREENDADPLAAEMLQPPIPRSKNDQ
  WESEDSGSSPAGSLKMEPKNKGLKQQQQQHKKLLAAMLSQDSFESIHSPTPSVTEEDIDNEDDAMELLEDLNDLR
  MEGVTTLVPSGSKFNQGRPTYPAEPQAKVTLNICSRCARLQGDNLEERTEESLPILHSPDEKIPDSFDSLPGTEE
  ALMEEGDEFEKASKLTGPGEASSGVGHSLKNYMEEDESLKQLQVVHQPWILPSDTESEGVEAEQEKRSADLLLCV
  PCSSCPTLVYSGL

• Structural information:
  • Interpro: IPR040687  
  • STRING: ENSP00000427820
• Other Databases: GeneCards:  C8orf34  Malacards:  C8orf34

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R