• Gene id: 126823

Gene Summary

• Gene Symbol: KLHDC9   Gene   UCSC   Ensembl
• Aliases: KARCA1
• Gene name: kelch domain containing 9
• Alternate names: kelch domain-containing protein 9, kelch/ankyrin repeat-containing cyclin A1-interacting protein,
• Gene location: 1q23.3 (161098360: 161100345)     Exons: 5     NC_000001.11
• OMIM: 617375

Protein Summary

• Protein general information: Q8NEP7  
  • Name: Kelch domain containing protein 9 (Kelch/ankyrin repeat containing cyclin A1 interacting protein)
  • Length: 349  
  • Mass: 37754
• Sequence:

  MAVAVPPGRAAGSGWAWRPVARDALLARAFHSCTELRGRFYLVGGLLAGGAREPSSDTVVFDPARGQAVRLGARG
  SPPRSHHDAAPVDGRWLCVVGGWDGSRRLATVTALDTERGVWEAWTGTPGDCPPAGLSSHTCTRISDRELQVAGR
  EGGIHTQRRYGSIYTLRLDPSARTYCYKQEGCHTASRSGHCAALLQTPGPHPGHQLLLFGGCNLAEPEVAGHWSH
  GKIKEEPPVAPHLMEQLARLVSSGQGSQKGPHGLRHHSCSVVGPFAVLFGGETLTRARDTICNDLYIYDTRTSPP
  LWFHFPCADRGMKRMGHRTCLWNDQLYLVGGFGEDGRTASPQVCILDFI

• Structural information:
  • Interpro: IPR011043  IPR015915  IPR042941  
  • STRING: ENSP00000356990
• Other Databases: GeneCards:  KLHDC9  Malacards:  KLHDC9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030332	cyclin binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0008150	biological_process	ND	biological process
GO:0030332	cyclin binding	IPI	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray