BCAP31
entrez
10134
canonical
uniprot
P51572
canonical
ensembl
ENSG00000185825
resolver
ensp
ENSP00000343458
resolver
ensp
ENSP00000392330
resolver
ensp
ENSP00000499882
resolver
ensp
ENSP00000532136
resolver
genesymbol
BCAP31
resolver
genesymbol_syn
BAP31
resolver
genesymbol_syn
DXS1357E
resolver
hgnc
HGNC:16695
resolver
uniprot
B3KQ79
resolver
uniprot
D3DWV5
resolver
uniprot
Q13836
resolver
uniprot
Q96CF0
resolver
uniprot_entry
BAP31_HUMAN
resolver
uniprot_sec
B3KQ79
resolver
uniprot_sec
D3DWV5
resolver
uniprot_sec
Q13836
resolver
uniprot_sec
Q96CF0
resolver
amino_acid_sequence
MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE
uniprot
proteins
disease_involvement
DISEASE: Deafness, dystonia, and cerebral hypomyelination (DDCH) [MIM:300475]: An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging. {ECO:0000269|PubMed:24011989}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=BCAP31 is deleted in the chromosome Xq28 deletion syndrome which involves BCAP31 and the and the promoter region of ABCD1. {ECO:0000269|PubMed:11992258}.
uniprot
proteins
function
FUNCTION: Functions as a chaperone protein (PubMed:18287538, PubMed:9396746). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:18287538, PubMed:9396746). Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD) (PubMed:18287538, PubMed:9396746). Also serves as a cargo receptor for the export of transmembrane proteins (By similarity). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by stimulating the translocation of NDUFS4 and NDUFB11 from the cytosol to the mitochondria via interaction with TOMM40 (PubMed:31206022). In response to ER stress, delocalizes from the ER-mitochondria contact sites and binds BCL2 (PubMed:31206022). May be involved in CASP8-mediated apoptosis (PubMed:10958671). {ECO:0000250|UniProtKB:Q61335, ECO:0000269|PubMed:10958671, ECO:0000269|PubMed:18287538, ECO:0000269|PubMed:31206022, ECO:0000269|PubMed:9396746}.
uniprot
proteins
mass_dalton
27992
uniprot
proteins
mutagenesis
MUTAGEN 164; /note="D->A: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-238."; /evidence="ECO:0000269|PubMed:10958671"; MUTAGEN 238; /note="D->A: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-164."; /evidence="ECO:0000269|PubMed:10958671
uniprot
proteins
post_translational_modification
PTM: Cleaved by CASP8 and other caspases.
uniprot
proteins
protein_family
BCAP29/BCAP31 family
uniprot
proteins
pubmed
10958671
uniprot
proteins
pubmed
11042173
uniprot
proteins
pubmed
11561007
uniprot
proteins
pubmed
11917123
uniprot
proteins
pubmed
11992258
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15024066
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18287538
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23967155
uniprot
proteins
pubmed
24011989
uniprot
proteins
pubmed
24196833
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25631089
uniprot
proteins
pubmed
25854864
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31206022
uniprot
proteins
pubmed
7806238
uniprot
proteins
pubmed
8612576
uniprot
proteins
pubmed
8706661
uniprot
proteins
pubmed
9334338
uniprot
proteins
pubmed
9396746
uniprot
proteins
sequence_length
246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:31206022, ECO:0000269|PubMed:9334338, ECO:0000269|PubMed:9396746}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:11042173, ECO:0000269|PubMed:9396746}; Multi-pass membrane protein {ECO:0000255}. Note=May shuttle between the ER and the intermediate compartment/cis-Golgi complex (PubMed:9396746). Associates with the mitochondria-associated endoplasmic reticulum membrane via interaction with TOMM40 (PubMed:31206022). {ECO:0000269|PubMed:31206022, ECO:0000269|PubMed:9396746}.; SUBCELLULAR LOCATION: Note=(Microbial infection) Upon SV40 infection, colocalizes with DNAJC18, DNAJB12 and DNAJB14 in punctate structures within the endoplasmic reticulum membrane. {ECO:0000269|PubMed:25631089}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..27; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 44..64; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..123; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins