KLHL12
entrez
59349
canonical
uniprot
Q53G59
canonical
ensembl
ENSG00000117153
resolver
ensp
ENSP00000356228
resolver
ensp
ENSP00000356230
resolver
ensp
ENSP00000540865
resolver
ensp
ENSP00000667906
resolver
enst
ENST00000367259
resolver
genesymbol
KLHL12
resolver
genesymbol_syn
C3IP1
resolver
hgnc
HGNC:19360
resolver
uniprot
A6NEN8
resolver
uniprot
B7Z7B8
resolver
uniprot
F6UFR7
resolver
uniprot
Q9H7R2
resolver
uniprot
Q9HBX5
resolver
uniprot_entry
F6UFR7_HUMAN
resolver
uniprot_entry
KLH12_HUMAN
resolver
uniprot_entry
Q9H7R2_HUMAN
resolver
uniprot_sec
A6NEN8
resolver
uniprot_sec
B7Z7B8
resolver
uniprot_sec
Q9HBX5
resolver
amino_acid_sequence
MGGIMAPKDIMTNTHAKSILNSMNSLRKSNTLCDVTLRVEQKDFPAHRIVLAACSDYFCAMFTSELSEKGKPYVDIQGLTASTMEILLDFVYTETVHVTVENVQELLPAACLLQLKGVKQACCEFLESQLDPSNCLGIRDFAETHNCVDLMQAAEVFSQKHFPEVVQHEEFILLSQGEVEKLIKCDEIQVDSEEPVFEAVINWVKHAKKEREESLPNLLQYVRMPLLTPRYITDVIDAEPFIRCSLQCRDLVDEAKKFHLRPELRSQMQGPRTRARLGANEVLLVVGGFGSQQSPIDVVEKYDPKTQEWSFLPSITRKRRYVASVSLHDRIYVIGGYDGRSRLSSVECLDYTADEDGVWYSVAPMNVRRGLAGATTLGDMIYVSGGFDGSRRHTSMERYDPNIDQWSMLGDMQTAREGAGLVVASGVIYCLGGYDGLNILNSVEKYDPHTGHWTNVTPMATKRSGAGVALLNDHIYVVGGFDGTAHLSSVEAYNIRTDSWTTVTSMTTPRCYVGATVLRGRLYAIAGYDGNSLLSSIECYDPIIDSWEVVTSMGTQRCDAGVCVLREK
uniprot
proteins
function
FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508). {ECO:0000269|PubMed:16547521, ECO:0000269|PubMed:18303015, ECO:0000269|PubMed:20100572, ECO:0000269|PubMed:22358839, ECO:0000269|PubMed:27565346, ECO:0000269|PubMed:27716508}.
uniprot
proteins
mass_dalton
63277
uniprot
proteins
mutagenesis
MUTAGEN 15; /note="H->A: Abolished ubiquitination by the SCF(FBXL17) complex."; /evidence="ECO:0000269|PubMed:30190310"; MUTAGEN 34; /note="D->A: Abolished ubiquitination by the SCF(FBXL17) complex."; /evidence="ECO:0000269|PubMed:30190310"; MUTAGEN 50; /note="V->A: Increased recognition and ubiquitination by the SCF(FBXL17) complex."; /evidence="ECO:0000269|PubMed:30190310"; MUTAGEN 60; /note="A->E,K: Abolished ubiquitination by the SCF(FBXL17) complex."; /evidence="ECO:0000269|PubMed:30190310"; MUTAGEN 289..290; /note="FG->AA: Abolishes interaction with SEC31A and subsequent monoubiquitination of SEC31A. Abolishes ubiquitination of PEF1."; /evidence="ECO:0000269|PubMed:22358839, ECO:0000269|Ref.3
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the SCF(FBXL17) complex, leading to its degradation by the proteasome: ubiquitination by the SCF(FBXL17) complex takes place when aberrant BTB domain dimers are formed. {ECO:0000269|PubMed:30190310}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15383316
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16108817
uniprot
proteins
pubmed
16547521
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18303015
uniprot
proteins
pubmed
20100572
uniprot
proteins
pubmed
22358839
uniprot
proteins
pubmed
23349464
uniprot
proteins
pubmed
27565346
uniprot
proteins
pubmed
27716508
uniprot
proteins
pubmed
30190310
uniprot
proteins
sequence_length
568
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle {ECO:0000269|PubMed:22358839, ECO:0000269|PubMed:27716508}.
uniprot
proteins