• Gene id: 90293

Gene Summary

• Gene Symbol: KLHL13   Gene   UCSC   Ensembl
• Aliases: BKLHD2
• Gene name: kelch like family member 13
• Alternate names: kelch-like protein 13, BTB and kelch domain containing 2, kelch-like 13,
• Gene location: Xq24 (118117339: 117897812)     Exons: 14     NC_000023.11
• Gene summary(Entrez): This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3
• OMIM: 301038

Protein Summary

• Protein general information: Q9P2N7  
  • Name: Kelch like protein 13 (BTB and kelch domain containing protein 2)
  • Length: 655  
  • Mass: 73868
• Sequence:

  MPLKWKTSSPAIWKFPVPVLKTSRSTPLSPAYISLVEEEDQHMKLSLGGSEMGLSSHLQSSKAGPTRIFTSNTHS
  SVVLQGFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDYFKAMFTGGMKEQDLMCIKLHGVSKVGLRKIID
  FIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLISGVTLDNCVEVGRIANTYNLTEVDKYVNSFVLKNFPA
  LLSTGEFLKLPFERLAFVLSSNSLKHCTELELFKATCRWLRLEEPRMDFAAKLMKNIRFPLMTPQELINYVQTVD
  FMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIRSDTTHLVTLGGVLRQQLVVSKELRMYDEKAHEWKSLAPM
  DAPRYQHGIAVIGNFLYVVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGYLYAVGGRN
  AAGELPTVECYNPRTNEWTYVAKMSEPHYGHAGTVYGGVMYISGGITHDTFQKELMCFDPDTDKWIQKAPMTTVR
  GLHCMCTVGERLYVIGGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAMLRGQSDVGVAVFENKIYVVGGYSWNNR
  CMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVFPPEETTPSPSRESPLSAP

• Structural information:
  • Protein Domains: (92..16-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (196..29-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000443191
• Other Databases: GeneCards:  KLHL13  Malacards:  KLHL13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030496	midbody	IBA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0016567	protein ubiquitination	IDA	biological process
GO:0032465	regulation of cytokinesis	IMP	biological process
GO:0051301	cell division	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0047485	protein N-terminus binding	IMP	molecular function
GO:0097602	cullin family protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R