• Gene id: 339451

Gene Summary

• Gene Symbol: KLHL17   Gene   UCSC   Ensembl
• Gene name: kelch like family member 17
• Alternate names: kelch-like protein 17, actinfilin, kelch-like 17,
• Gene location: 1p36.33 (960102: 965718)     Exons: 12     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may pla
• OMIM: 616101

Protein Summary

• Protein general information: Q6TDP4  
  • Name: Kelch like protein 17 (Actinfilin)
  • Length: 642  
  • Mass: 69874
• Sequence:

  MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHY
  HDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFA
  YTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVA
  KTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESL
  VRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASM
  STRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCL
  NSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGV
  AVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPR
  TNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL

• Structural information:
  • Protein Domains: (92..15-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (194..29-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR011043  IPR015915   IPR006652  IPR030594  IPR011333  
  • Prosite: PS50097
  • PDB: 6HRL
  • PDBsum: 6HRL
  • STRING: ENSP00000343930
• Other Databases: GeneCards:  KLHL17  Malacards:  KLHL17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0007420	brain development	IBA	biological process
GO:0032839	dendrite cytoplasm	IBA	cellular component
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0060090	molecular adaptor activity	ISS	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0031208	POZ domain binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq