• Gene id: 55975

Gene Summary

• Gene Symbol: KLHL7   Gene   UCSC   Ensembl
• Aliases: CISS3, KLHL6, PERCHING, SBBI26
• Gene name: kelch like family member 7
• Alternate names: kelch-like protein 7, kelch-like 6, kelch-like 7, kelch/BTB,
• Gene location: 7p15.3 (23105733: 23177913)     Exons: 15     NC_000007.14
• Gene summary(Entrez): This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
• OMIM: 611119

Protein Summary

• Protein general information: Q8IXQ5  
  • Name: Kelch like protein 7
  • Length: 586  
  • Mass: 65992
  • Tissue specificity: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis. {ECO
• Sequence:

  MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTT
  NMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGIS
  VLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNRQPF
  MVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGG
  SQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKDSWYSKLGPPTPRDSL
  AACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVLNS
  CEVYDPATETWTELCPMIEARKNHGLVFVKDKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAA
  VGSIVYVLAGFQGVGRLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDTCGANEETLET

• Structural information:
  • Protein Domains: (44..11-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (146..24-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR030599  IPR011333  
  • Prosite: PS50097
  • PDB: 3II7
  • PDBsum: 3II7
  • STRING: ENSP00000343273
• Other Databases: GeneCards:  KLHL7  Malacards:  KLHL7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Cold-induced sweating syndrome	KEGG:H00935
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881