Homo sapiens Protein: KLHL7 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-9562.6 | ||||||||||||||||||
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 | ENSP00000343273 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000210
BTB/POZ-like IPR006652 Kelch repeat type 1 IPR011333 BTB/POZ fold IPR011498 Kelch repeat type 2 IPR011705 BTB/Kelch-associated IPR013069 BTB/POZ IPR017096 Kelch-like protein, gigaxonin type |
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PFAM |
PF01344
PF07646 PF07707 PF00651 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF037037
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SMART |
SM00225
SM00612 SM00875 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8IXQ5 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q8IXQ5 | ||||||||||||||||||
TrEMBL | E5RFN1 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 55975 | ||||||||||||||||||
UniGene | Hs.708589 | ||||||||||||||||||
RefSeq | NP_001026880 | ||||||||||||||||||
HUGO | HGNC:15646 | ||||||||||||||||||
OMIM | 611119 | ||||||||||||||||||
CCDS | CCDS34609 | ||||||||||||||||||
HPRD | 13927 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC005082 AC006039 AC073992 AF111113 AK056390 AK296219 AK297595 AK299006 AL136597 BC009555 BC039585 CH236948 CH471073 EF560731 | ||||||||||||||||||
GenPept | AAF27196 AAH09555 AAH39585 AAO21916 ABQ59041 BAB71175 BAH12285 BAH12623 BAH12925 CAB66532 EAL24261 EAW93770 EAW93773 EAW93774 | ||||||||||||||||||