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

Summary

Official Symbol: BCAP31provided by HGNC
Official Full Name: B cell receptor associated protein 31provided by HGNC
Primary source: HGNC:HGNC:16695
See related: Ensembl:ENSG00000185825 MIM:300398; AllianceGenome:HGNC:16695
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; DDCH; BAP31; 6C6-AG; DELXQ28; DXS1357E; MICRODELXq28
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]
Expression: Ubiquitous expression in fat (RPKM 94.9), adrenal (RPKM 52.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (153700492..153724387, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (151974158..151998050, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (152965947..152989842, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BAP31 Promotes Angiogenesis via Galectin-3 Upregulation in Neuroblastoma.
Title: BAP31 Promotes Angiogenesis via Galectin-3 Upregulation in Neuroblastoma.
NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting BCAP31 to activate PI3K/AKT signaling.
Title: NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting BCAP31 to activate PI3K/AKT signaling.
BAP31-Mediated miR-206/133b Cluster Promotes Transendothelial Migration and Metastasis of Colorectal Cancer.
Title: BAP31-Mediated miR-206/133b Cluster Promotes Transendothelial Migration and Metastasis of Colorectal Cancer.
HNF4A-BAP31-VDAC1 axis synchronously regulates cell proliferation and ferroptosis in gastric cancer.
Title: HNF4A-BAP31-VDAC1 axis synchronously regulates cell proliferation and ferroptosis in gastric cancer.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Title: Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
BAP31: Physiological functions and roles in disease.
Title: BAP31: Physiological functions and roles in disease.
Schimke XLID syndrome results from a deletion in BCAP31.
Title: Schimke XLID syndrome results from a deletion in BCAP31.
Biological roles of the B cell receptor-associated protein 31: Functional Implication in Cancer.
Title: Biological roles of the B cell receptor-associated protein 31: Functional Implication in Cancer.
Immunohistochemical expression of BCAP 31 in chronic plaque psoriasis.
Title: Immunohistochemical expression of BCAP 31 in chronic plaque psoriasis.
BCAP31, a cancer/testis antigen-like protein, can act as a probe for non-small-cell lung cancer metastasis.
Title: BCAP31, a cancer/testis antigen-like protein, can act as a probe for non-small-cell lung cancer metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MedGen: C3806634 OMIM: 300475 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-08) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-08-08) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with B-cell receptor-associated protein 31 (BCAP31) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Nef	nef	The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein B-cell receptor-associated protein 31 (BAP31), which co-localizes with Nef mainly along membranes of the nucleus or ER/Golgi structures	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7452 (e-PCR)
- UniSTS:99348

RH70615 (e-PCR)
- UniSTS:45363

GDB:511618 (e-PCR)
- UniSTS:157515

DXS7418 (e-PCR)
- UniSTS:31055

GDB:523970 (e-PCR)
- UniSTS:157541

GDB:524010 (e-PCR)
- UniSTS:157542

RH77716 (e-PCR)
- UniSTS:88176

NoName (e-PCR)
- UniSTS:99200

RH71460 (e-PCR)
- UniSTS:68243

RH79936 (e-PCR)
- UniSTS:88296

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MHC class I protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in calcium-mediated signaling using intracellular calcium source	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endoplasmic reticulum calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERAD pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of retrograde protein transport, ER to cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to endoplasmic reticulum exit site	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting to mitochondrion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in lumenal side of endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in perinuclear endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: B-cell receptor-associated protein 31

Names: 6C6-AG tumor-associated antigen; BCR-associated protein Bap31; p28 Bap31

NCBI Reference Sequences (RefSeq)

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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

5360..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

See identical proteins and their annotated locations for NP_001132913.1

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

B3KQ79, D3DWV5, P51572, Q13836, Q96CF0

UniProtKB/TrEMBL

Q53G72, Q53HT6

Conserved Domains (3) summary

PRK02224
Location:134 → 229

PRK02224; DNA double-strand break repair Rad50 ATPase

pfam05529
Location:1 → 136

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

pfam18035
Location:193 → 246

Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain
NM_001139457.2 → NP_001132929.1 B-cell receptor-associated protein 31 isoform a

See identical proteins and their annotated locations for NP_001132929.1

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/Swiss-Prot

P51572

Related

ENSP00000392330.2, ENST00000458587.8

Conserved Domains (1) summary

pfam05529
Location:68 → 291

Bap31; B-cell receptor-associated protein 31-like
NM_001256447.2 → NP_001243376.1 B-cell receptor-associated protein 31 isoform b

See identical proteins and their annotated locations for NP_001243376.1

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

Consensus CDS

CCDS14727.1

UniProtKB/Swiss-Prot

B3KQ79, D3DWV5, P51572, Q13836, Q96CF0

UniProtKB/TrEMBL

Q53G72, Q53HT6

Related

ENSP00000343458.6, ENST00000345046.12

Conserved Domains (3) summary

PRK02224
Location:134 → 229

PRK02224; DNA double-strand break repair Rad50 ATPase

pfam05529
Location:1 → 136

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

pfam18035
Location:193 → 246

Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain
NM_005745.8 → NP_005736.3 B-cell receptor-associated protein 31 isoform b

See identical proteins and their annotated locations for NP_005736.3

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, U52111

Consensus CDS

CCDS14727.1

UniProtKB/Swiss-Prot

B3KQ79, D3DWV5, P51572, Q13836, Q96CF0

UniProtKB/TrEMBL

Q53G72, Q53HT6

Related

ENSP00000499882.1, ENST00000672675.1

Conserved Domains (3) summary

PRK02224
Location:134 → 229

PRK02224; DNA double-strand break repair Rad50 ATPase

pfam05529
Location:1 → 136

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

pfam18035
Location:193 → 246

Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain