• Gene id: 80759

Gene Summary

• Gene Symbol: KHDC1   Gene   UCSC   Ensembl
• Aliases: C6orf147, C6orf148, Em:AC019205.8, KHDC1L, NDG1, bA257K9.4
• Gene name: KH domain containing 1
• Alternate names: KH homology domain-containing protein 1, KH homology domain containing 1, Putative KHDC1-like protein,
• Gene location: 6q13 (73310364: 73241313)     Exons: 9     NC_000006.12

Protein Summary

• Protein general information: Q4VXA5  
  • Name: KH homology domain containing protein 1
  • Length: 237  
  • Mass: 27160
• Sequence:

  MLSAFQRLFRVLFVIETVSEYGVLIFIYGWPFLQTLAMLLIGTVSFHLWIRRNRERNSRSGKTRCRSKRSEQSMD
  MGTSALSKKPWWTLPQNFHAPMVFHMEEDQEELIFGHGDTYLRCIEVHSHTLIQLESWFTATGQTRVTVVGPHRA
  RQWLLHMFCCVGSQDSYHHARGLEMLERVRSQPLTNDDLVTSISVPPYTGDLSLAPRISGTVCLSVPQPSPYQVI
  GCSGFHLSSLYP

• Structural information:
  • Protein Domains: (96..15-)
    (/note="K-)
    (-)
  • Interpro: IPR036612  IPR031952  
  • CDD: cd12795
  • STRING: ENSP00000359411
• Other Databases: GeneCards:  KHDC1  Malacards:  KHDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray