PEF1
entrez
553115
canonical
uniprot
Q9UBV8
canonical
ensembl
ENSG00000162517
resolver
ensp
ENSP00000362807
resolver
ensp
ENSP00000702245
resolver
enst
ENST00000373703
resolver
genesymbol
PEF1
resolver
genesymbol_syn
ABP32
resolver
hgnc
HGNC:30009
resolver
uniprot
A0A384MQX5
resolver
uniprot_entry
A0A384MQX5_HUMAN
resolver
uniprot_entry
PEF1_HUMAN
resolver
amino_acid_sequence
MASYPYRQGCPGAAGQAPGAPPGSYYPGPPNSGGQYGSGLPPGGGYGGPAPGGPYGPPAGGGPYGHPNPGMFPSGTPGGPYGGAAPGGPYGQPPPSSYGAQQPGLYGQGGAPPNVDPEAYSWFQSVDSDHSGYISMKELKQALVNCNWSSFNDETCLMMINMFDKTKSGRIDVYGFSALWKFIQQWKNLFQQYDRDRSGSISYTELQQALSQMGYNLSPQFTQLLVSRYCPRSANPAMQLDRFIQVCTQLQVLTEAFREKDTAVQGNIRLSFEDFVTMTASRML
uniprot
proteins
function
FUNCTION: Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as a calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in endoplasmic reticulum (ER)-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Its role in the heterodimer formed with PDCD6 is however unclear: some evidence shows that PEF1 and PDCD6 work together and promote association between PDCD6 and SEC31 in presence of calcium (PubMed:27716508). Other reports show that PEF1 dissociates from PDCD6 in presence of calcium, and may act as a negative regulator of PDCD6 (PubMed:11278427). Also acts as a negative regulator of ER-Golgi transport; possibly by inhibiting interaction between PDCD6 and SEC31 (By similarity). {ECO:0000250|UniProtKB:Q641Z8, ECO:0000269|PubMed:11278427, ECO:0000269|PubMed:27716508}.
uniprot
proteins
mass_dalton
30381
uniprot
proteins
mutagenesis
MUTAGEN 137; /note="K->R: Decreased ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex."; /evidence="ECO:0000269|PubMed:27716508"; MUTAGEN 165; /note="K->R: Does not affect ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex."; /evidence="ECO:0000269|PubMed:27716508"; MUTAGEN 167; /note="K->R: Does not affect ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex."; /evidence="ECO:0000269|PubMed:27716508
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex. {ECO:0000269|PubMed:27716508}.
uniprot
proteins
pubmed
10486255
uniprot
proteins
pubmed
11278427
uniprot
proteins
pubmed
11883899
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27716508
uniprot
proteins
sequence_length
284
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11278427}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q641Z8}. Membrane {ECO:0000269|PubMed:11278427}; Peripheral membrane protein {ECO:0000269|PubMed:11278427}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:27716508}; Peripheral membrane protein {ECO:0000305}. Note=Membrane-associated in the presence of Ca(2+) (PubMed:11278427). Localizes to endoplasmic reticulum exit site (ERES) (By similarity). {ECO:0000250|UniProtKB:Q641Z8, ECO:0000269|PubMed:11278427}.
uniprot
proteins