BCAP31 B-cell receptor-associated protein 31 [Homo sapiens] - Gene

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Summary

Official Symbol: BCAP31provided by HGNC
Official Full Name: B-cell receptor-associated protein 31provided by HGNC
Primary source: HGNC:16695
See related: Ensembl:ENSG00000185825; HPRD:02319; MIM:300398; Vega:OTTHUMG00000024218
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDM; BAP31; 6C6-AG; DXS1357E
Summary: This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

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Genomic context

Location :: Xq28

Sequence :: Chromosome: X; NC_000023.10 (152965947..152990201, complement)

See BCAP31 in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

BAP31 and BiP are essential for dislocation of SV40 from the endoplasmic reticulum to the cytosol.
Title: BAP31 and BiP are essential for dislocation of SV40 from the endoplasmic reticulum to the cytosol.
Membrane-Associated RING-CH proteins MARCH VIII and MARCH IV associate with Bap31 and target CD81 and CD44 to lysosomes
Title: Membrane-Associated RING-CH proteins associate with Bap31 and target CD81 and CD44 to lysosomes.
Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction.
Title: Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction.
Bap31 is a component of the endoplasmic reticulum (ER) quality control compartment and that it moves between the peripheral ER and a juxtanuclear ER or ER-related compartment distinct from the conventional ER-Golgi intermediate compartment.
Title: Bap31 is an itinerant protein that moves between the peripheral endoplasmic reticulum (ER) and a juxtanuclear compartment related to ER-associated Degradation.
Results identify B-cell-associated protein 31 as a novel binding partner of the high-risk human papillomavirus 16 E5 proteins and provide insight into how the E5 proteins may modulate the life cycle in differentiating cells.
Title: Bap31 is a novel target of the human papillomavirus E5 protein.
BAP31 associates with the N terminus of one of its newly synthesized client proteins, the DeltaF508 mutant of CFTR, and promotes its retrotranslocation from the endoplasmic reticulum and degradation by the cytoplasmic 26S proteasome system.
Title: BAP31 interacts with Sec61 translocons and promotes retrotranslocation of CFTRDeltaF508 via the derlin-1 complex.
BAP31 may play a role in regulating intracellular trafficking of CD11b/CD18 in neutrophils
Title: Association of BAP31 with CD11b/CD18. Potential role in intracellular trafficking of CD11b/CD18 in neutrophils.
Cleavage of BAP31 leads to the generation of ER- localized, proapoptotic BAP20, which may mediate mitochondrion-ER cross talk through a Ca(2+)-dependent mechanism
Title: Association of active caspase 8 with the mitochondrial membrane during apoptosis: potential roles in cleaving BAP31 and caspase 3 and mediating mitochondrion-endoplasmic reticulum cross talk in etoposide-induced cell death.
Bap31 performs quality control on class I molecules in two distinct phases: by exporting peptide-loaded class I molecules to the ER/Golgi, and by retrieving class I molecules that have lost peptides in the acidic post-ER environment.
Title: Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules.
Data describe a novel human member of the protein tyrosine phosphatase-like B (PTPLB) family, an integral protein of the endoplasmic reticulum membrane, as a BAP31-interacting protein.
Title: The yeast split-ubiquitin membrane protein two-hybrid screen identifies BAP31 as a regulator of the turnover of endoplasmic reticulum-associated protein tyrosine phosphatase-like B.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_005736.3	NP_940684.1	PTPLB	BIND	PubMed	BAP31 interacts with PTPLB.
P51572	P63261	ACTG1	HPRD	PubMed
P51572	P05067	APP	HPRD	PubMed
P51572	Q9UHQ4	BCAP29	HPRD	PubMed
P51572	P51572	BCAP31	HPRD	PubMed
P51572	P10415	BCL2	HPRD	PubMed
P51572	Q07817	BCL2L1	HPRD	PubMed
P51572	P27824	CANX	HPRD	PubMed
P51572	P29466	CASP1	HPRD	PubMed
P51572	P42574	CASP3	HPRD	PubMed
P51572	Q14790	CASP8	HPRD	PubMed
P51572	P01891	HLA-A	HPRD	PubMed
P51572	P26038	MSN	HPRD	PubMed
P51572	P35580	MYH10	HPRD	PubMed
P51572	Q04941	PLP2	HPRD	PubMed
P51572	Protein tyrosine phosphatase like member b	PTPLB	HPRD	PubMed
P51572	P23763	VAMP1	HPRD	PubMed
P51572	Q15836	VAMP3	HPRD	PubMed
P51572	Immunoglobulin heavy constant delta		HPRD	PubMed
BioGRID:115437	BioGRID:106586	ACTG1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115437	BioGRID:121019	BCAP29	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115437	BioGRID:115437	BCAP31	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115437	BioGRID:107068	BCL2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:115437	BioGRID:107070	BCL2L1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:115437	BioGRID:107284	CASP1	BioGRID	PubMed	Biochemical Activity
BioGRID:115437	BioGRID:107291	CASP8	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:115437	BioGRID:198835	Copa	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115437	BioGRID:110713	MYH10	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115437	BioGRID:124834	RNF185	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115437	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115437	BioGRID:112711	VAMP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:115437	BioGRID:114747	VAMP3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:115437	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor binding	NAS Non-traceable Author Statement more info

Process	Evidence Code	Pubs
antigen processing and presentation of peptide antigen via MHC class I	TAS Traceable Author Statement more info
apoptotic process	TAS Traceable Author Statement more info
calcium-mediated signaling using intracellular calcium source	IMP Inferred from Mutant Phenotype more info
cellular component disassembly involved in apoptosis	TAS Traceable Author Statement more info
elevation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info
elevation of mitochondrial calcium ion concentration	IMP Inferred from Mutant Phenotype more info
immune response	NAS Non-traceable Author Statement more info
intracellular protein transport	IEA Inferred from Electronic Annotation more info
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info
positive regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info
reduction of endoplasmic reticulum calcium ion concentration	IMP Inferred from Mutant Phenotype more info
vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi membrane	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
integral to lumenal side of endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: B-cell receptor-associated protein 31

Names: B-cell receptor-associated protein 31; p28 Bap31; BCR-associated protein Bap31; 6C6-AG tumor-associated antigen

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023231.1 RefSeqGene

Range

5001..29255

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001139441.1 → NP_001132913.1 B-cell receptor-associated protein 31 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3 and 4 all encode isoform b.

Source sequence(s)

AI123868, BC065292, CX164660, DA819112

Consensus CDS

CCDS14727.1

UniProtKB/Swiss-Prot

P51572

Related

ENSP00000394270, OTTHUMP00000025979, ENST00000416815, OTTHUMT00000061074

Conserved Domains (1) summary

cl02219
Location:1 – 224
Blast Score: 362

Bap31; B-cell receptor-associated protein 31-like
NM_001139457.2 → NP_001132929.1 B-cell receptor-associated protein 31 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AI123868, AK057613, BG779815

Consensus CDS

CCDS48191.1

UniProtKB/TrEMBL

B3KQ79

Related

ENSP00000392330, OTTHUMP00000025978, ENST00000458587, OTTHUMT00000061072

Conserved Domains (1) summary

cl02219
Location:68 – 291
Blast Score: 384

Bap31; B-cell receptor-associated protein 31-like
NM_001256447.1 → NP_001243376.1 B-cell receptor-associated protein 31 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3 and 4 all encode isoform b.

Source sequence(s)

AI123868, BC065292, DA134013, U52111

UniProtKB/Swiss-Prot

P51572

Conserved Domains (1) summary

cl02219
Location:1 – 224
Blast Score: 362

Bap31; B-cell receptor-associated protein 31-like
NM_005745.7 → NP_005736.3 B-cell receptor-associated protein 31 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3 and 4 all encode isoform b.

Source sequence(s)

AI123868, AU132745, BC065292, BX474419

Consensus CDS

CCDS14727.1

UniProtKB/Swiss-Prot

P51572

Related

ENSP00000405417, ENST00000441714

Conserved Domains (1) summary

cl02219
Location:1 – 224
Blast Score: 362

Bap31; B-cell receptor-associated protein 31-like

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p5 Primary Assembly

Range

152965947..152990201, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

141623032..141647457, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	CH471172.2	EAW72818.1
		EAW72819.1
		EAW72820.1
		EAW72821.1
		EAW72822.1
		EAW72823.1
		EAW72824.1
		EAW72825.1
genomic	U36341.1	AAA79508.1
genomic	U52111.3 (107577..107583)	None
mRNA	AI123868.1	None
mRNA	AK057613.1	BAG51941.1
mRNA	AK125631.1	BAG54226.1
mRNA	AK222494.1	BAD96214.1
mRNA	AK223059.1	BAD96779.1
mRNA	AU132745.1	None
mRNA	BC014323.1	AAH14323.1
mRNA	BC065292.1	AAH65292.1
mRNA	BE729820.1	None
mRNA	BG779815.1	None
mRNA	BX474419.1	None
mRNA	CX164660.1	None
mRNA	DA134013.1	None
mRNA	DA819112.1	None
mRNA	X81109.1	CAA57015.1
mRNA	Z31696.1	CAA83501.1
other-genetic	AM392839.1	CAL37717.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
P51572.3	GenPept	UniProtKB/Swiss-Prot:P51572
Q53G72	GenPept	UniProtKB/TrEMBL:Q53G72
Q53HT6	GenPept	UniProtKB/TrEMBL:Q53HT6