• Gene id: 57563

Gene Summary

• Gene Symbol: KLHL8   Gene   UCSC   Ensembl
• Gene name: kelch like family member 8
• Alternate names: kelch-like protein 8, kelch-like 8,
• Gene location: 4q22.1 (14178816: 14201121)     Exons: 4     NC_000003.12
• OMIM: 611967

Protein Summary

• Protein general information: Q9P2G9  
  • Name: Kelch like protein 8
  • Length: 620  
  • Mass: 68802
• Sequence:

  MASDSMSSKQARNHITKGKRQQQHQQIKNRSSISDGDGEDSFIFEANEAWKDFHGSLLRFYENGELCDVTLKVGS
  KLISCHKLVLACVIPYFRAMFLSEMAEAKQTLIEIRDFDGDAIEDLVKFVYSSRLTLTVDNVQPLLYAACILQVE
  LVARACCEYMKLHFHPSNCLAVRAFAESHNRIDLMDMADQYACDHFTEVVECEDFVSVSPQHLHKLLSSSDLNIE
  NEKQVYNAAIKWLLANPQHHSKWLDETLAQVRLPLLPVDFLMGVVAKEQIVKQNLKCRDLLDEARNYHLHLSSRA
  VPDFEYSIRTTPRKHTAGVLFCVGGRGGSGDPFRSIECYSINKNSWFFGPEMNSRRRHVGVISVEGKVYAVGGHD
  GNEHLGSMEMFDPLTNKWMMKASMNTKRRGIALASLGGPIYAIGGLDDNTCFNDVERYDIESDQWSTVAPMNTPR
  GGVGSVALVNHVYAVGGNDGMASLSSVERYDPHLDKWIEVKEMGQRRAGNGVSKLHGCLYVVGGFDDNSPLSSVE
  RYDPRSNKWDYVAALTTPRGGVGIATVMGKIFAVGGHNGNAYLNTVEAFDPVLNRWELVGSVSHCRAGAGVAVCS
  CLTSQIRDVGHGSNNVVDCM

• Structural information:
  • Protein Domains: (67..13-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (169..27-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR011043  IPR015915   IPR006652  IPR030605  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000273963
• Other Databases: GeneCards:  KLHL8  Malacards:  KLHL8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881