Version 5.4
Homo sapiens Protein: KLHL7
Summary
InnateDB Protein IDBP-294892.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KLHL7
Protein Name kelch-like 7 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000386999
InnateDB Gene IDBG-9558 (KLHL7)
Protein Structure
UniProt Annotation
Function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination. {ECO:0000269PubMed:21828050}.
Subcellular Localization Nucleus {ECO:0000269PubMed:16918702}.
Disease Associations Retinitis pigmentosa 42 (RP42) [MIM:612943]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:19520207, ECO:0000269PubMed:20547956, ECO:0000269PubMed:22084217}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis. {ECO:0000269PubMed:16918702}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0016567 protein ubiquitination
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0031463 Cul3-RING ubiquitin ligase complex
Protein Structure and Domains
PDB ID
InterPro IPR000210 BTB/POZ-like
IPR011333 BTB/POZ fold
IPR013069 BTB/POZ
PFAM PF00651
PRINTS
PIRSF
SMART SM00225
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IXQ5
PhosphoSite PhosphoSite-Q8IXQ5
TrEMBL
UniProt Splice Variant
Entrez Gene 55975
UniGene Hs.708589
RefSeq
HUGO HGNC:15646
OMIM 611119
CCDS
HPRD 13927
IMGT
EMBL AC005082 AC006039 AC073992 AF111113 AK056390 AK299006 AL136597 BC009555 BC039585 CH236948 CH471073 EF560731
GenPept AAF27196 AAH09555 AAH39585 AAO21916 ABQ59041 BAB71175 BAH12925 CAB66532 EAL24261 EAW93770 EAW93773 EAW93774

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca