InnateDB Protein
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IDBP-9564.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KLHL7
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Protein Name
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kelch-like 7 (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000323270
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InnateDB Gene
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IDBG-9558 (KLHL7)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:16918702}.
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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.
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Tissue Specificity |
Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis. {ECO:0000269PubMed:16918702}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000210
BTB/POZ-like
IPR011333
BTB/POZ fold
IPR013069
BTB/POZ
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PFAM |
PF00651
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PRINTS |
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PIRSF |
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SMART |
SM00225
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TIGRFAMs |
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Modification |
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SwissProt |
Q8IXQ5
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PhosphoSite |
PhosphoSite-Q8IXQ5
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TrEMBL |
E5RFN1
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UniProt Splice Variant |
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Entrez Gene |
55975
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UniGene |
Hs.708589
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RefSeq |
NP_001165899
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HUGO |
HGNC:15646
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OMIM |
611119
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CCDS |
CCDS55095
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HPRD |
13927
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IMGT |
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EMBL |
AC005082
AC006039
AC073992
AF111113
AK056390
AK299006
AL136597
BC009555
BC039585
CH236948
CH471073
EF560731
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GenPept |
AAF27196
AAH09555
AAH39585
AAO21916
ABQ59041
BAB71175
BAH12925
CAB66532
EAL24261
EAW93770
EAW93773
EAW93774
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