KLHL7
entrez
55975
canonical
uniprot
Q8IXQ5
canonical
ensembl
ENSG00000122550
resolver
ensp
ENSP00000323270
resolver
ensp
ENSP00000343273
resolver
ensp
ENSP00000386263
resolver
genesymbol
KLHL7
resolver
hgnc
HGNC:15646
resolver
uniprot
A4D144
resolver
uniprot
A8K364
resolver
uniprot
B7Z5I9
resolver
uniprot
G5E9G3
resolver
uniprot
Q7Z765
resolver
uniprot
Q96MV2
resolver
uniprot
Q9BQF8
resolver
uniprot
Q9UDQ9
resolver
uniprot_entry
A8K364_HUMAN
resolver
uniprot_entry
KLHL7_HUMAN
resolver
uniprot_sec
A4D144
resolver
uniprot_sec
B7Z5I9
resolver
uniprot_sec
G5E9G3
resolver
uniprot_sec
Q7Z765
resolver
uniprot_sec
Q96MV2
resolver
uniprot_sec
Q9BQF8
resolver
uniprot_sec
Q9UDQ9
resolver
amino_acid_sequence
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGGSQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKDSWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVKDKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGSIVYVLAGFQGVGRLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDTCGANEETLET
uniprot
proteins
disease_involvement
DISEASE: Perching syndrome (PERCHING) [MIM:617055]: An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. {ECO:0000269|PubMed:27392078}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:19520207, ECO:0000269|PubMed:20547956, ECO:0000269|PubMed:21828050, ECO:0000269|PubMed:22084217}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:21828050}.
uniprot
proteins
mass_dalton
65992
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16918702
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19520207
uniprot
proteins
pubmed
20547956
uniprot
proteins
pubmed
21828050
uniprot
proteins
pubmed
22084217
uniprot
proteins
pubmed
27392078
uniprot
proteins
sequence_length
586
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16918702}. Cytoplasm {ECO:0000269|PubMed:27392078}. Note=Colocalizes with CUL3 in punctate structures at the perinuclear region of the cytoplasm. {ECO:0000269|PubMed:27392078}.
uniprot
proteins