• Gene id: 56062

Gene Summary

• Gene Symbol: KLHL4   Gene   UCSC   Ensembl
• Aliases: DKELCHL, KHL4
• Gene name: kelch like family member 4
• Alternate names: kelch-like protein 4,
• Gene location: Xq21.31 (87517729: 87670049)     Exons: 12     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has
• OMIM: 300348

Protein Summary

• Protein general information: Q9C0H6  
  • Name: Kelch like protein 4
  • Length: 718  
  • Mass: 80245
  • Tissue specificity: Expressed in adult fibroblasts and in a range of fetal tissues including tongue, palate, and mandible.
• Sequence:

  MSVSGKKEFDVKQILRLRWRWFSHPFQGSTNTGSCLQQEGYEHRGTPVQGRLKSHSRDRNGLKKSNSPVHHNILA
  PVPGPAPAHQRAVQNLQQHNLIVHFQANEDTPKSVPEKNLFKEACEKRAQDLEMMADDNIEDSTARLDTQHSEDM
  NATRSEEQFHVINHAEQTLRKMENYLKEKQLCDVLLIAGHLRIPAHRLVLSAVSDYFAAMFTNDVLEAKQEEVRM
  EGVDPNALNSLVQYAYTGVLQLKEDTIESLLAAACLLQLTQVIDVCSNFLIKQLHPSNCLGIRSFGDAQGCTELL
  NVAHKYTMEHFIEVIKNQEFLLLPANEISKLLCSDDINVPDEETIFHALMQWVGHDVQNRQGELGMLLSYIRLPL
  LPPQLLADLETSSMFTGDLECQKLLMEAMKYHLLPERRSMMQSPRTKPRKSTVGALYAVGGMDAMKGTTTIEKYD
  LRTNSWLHIGTMNGRRLQFGVAVIDNKLYVVGGRDGLKTLNTVECFNPVGKIWTVMPPMSTHRHGLGVATLEGPM
  YAVGGHDGWSYLNTVERWDPEGRQWNYVASMSTPRSTVGVVALNNKLYAIGGRDGSSCLKSMEYFDPHTNKWSLC
  APMSKRRGGVGVATYNGFLYVVGGHDAPASNHCSRLSDCVERYDPKGDSWSTVAPLSVPRDAVAVCPLGDKLYVV
  GGYDGHTYLNTVESYDAQRNEWKEEVPVNIGRAGACVVVVKLP

• Structural information:
  • Protein Domains: (182..24-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011705  IPR000210  IPR015915  IPR006652  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000362206
• Other Databases: GeneCards:  KLHL4  Malacards:  KLHL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

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			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