BCAP31 - B cell receptor associated protein 31 Gene

Homo sapiens

Also known as CDM; DDCH; BAP31; 6C6-AG; DXS1357E

Gene ID: 10134 | Gene type: protein coding

About BCAP31

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,700,492-153,724,387 (from NCBI)

This gene has 14 transcripts (splice variants), 186 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 94.9), adrenal (RPKM 52.3) and 25 other tissues.

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]

BCAP31 Products(4)

mRNA	Protein	Name
NM_001139441.1	NP_001132913.1	B-cell receptor-associated protein 31 isoform b
NM_001139457.2	NP_001132929.1	B-cell receptor-associated protein 31 isoform a
NM_001256447.2	NP_001243376.1	B-cell receptor-associated protein 31 isoform b
NM_005745.8	NP_005736.3	B-cell receptor-associated protein 31 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9334338	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of ERAD pathway	IGI IGI: Inferred from genetic interaction	18555783	GOA
involved in positive regulation of intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	21183955	GOA
involved in positive regulation of retrograde protein transport, ER to cytosol	IDA IDA: Inferred from direct assay	18555783	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	18555783	GOA
involved in protein targeting to mitochondrion	IGI IGI: Inferred from genetic interaction	31206022	GOA
involved in response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	31206022	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18555783	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	14741744	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: Inferred from direct assay	31206022	GOA
located in perinuclear endoplasmic reticulum	IDA IDA: Inferred from direct assay	25854864	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	8706661	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCAP31 Protein Structure

Bap31

0
100
200
246 a.a.

Protein Preferred Names

Protein Names

B-cell receptor-associated protein 31

6C6-AG tumor-associated antigen

BCAP31 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	BCAP31	P51572	SH (1A)	Human respiratory syncytial virus A	Q77YB1	Ub Reconstruction	25854864
Intra	BCAP31	P51572	SEC61B	Homo sapiens	P60468	IF	18555783
Intra	BCAP31	P51572	SEC61B	Homo sapiens	P60468	Anti Bait CoIP	18555783
Intra	BCAP31	P51572	TRAM1	Homo sapiens	Q15629	IF	18555783
Intra	BCAP31	P51572	TRAM1	Homo sapiens	Q15629	Anti Tag CoIP	18555783
Intra	BCAP31	P51572	KLK6	Homo sapiens	Q92876	Validated Y2H	32814053
Intra	BCAP31	P51572	KLK6	Homo sapiens	Q92876	Y2H Array	32814053
Intra	BCAP31	P51572	KLK6	Homo sapiens	Q92876	Y2H Pooling	32814053
Intra	BCAP31	P51572	BCAP29	Homo sapiens	Q9UHQ4	Anti Tag CoIP	35271311
Intra	BCAP31	P51572	BCAP29	Homo sapiens	Q9UHQ4	Crosslink	30021884
Intra	BCAP31	P51572	BCAP29	Homo sapiens	Q9UHQ4	Anti Tag CoIP	33961781
Intra	BCAP31	P51572	FIS1	Homo sapiens	Q9Y3D6	Confocal	21183955
Intra	BCAP31	P51572	FIS1	Homo sapiens	Q9Y3D6	Anti Tag CoIP	21183955
Intra	BCAP31	P51572	CFTR	Homo sapiens	P13569	Anti Bait CoIP	18555783
Intra	BCAP31	P51572	DERL1	Homo sapiens	Q9BUN8	Anti Tag CoIP	18555783
Intra	BCAP31	P51572	HACD2	Homo sapiens	Q6Y1H2	Anti Tag CoIP	15024066
Intra	BCAP31	P51572	TIMMDC1	Homo sapiens	Q9NPL8	Validated Y2H	32296183
Intra	BCAP31	P51572	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Array	32296183
Intra	BCAP31	P51572	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

BCAP31 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81575	BAP31 Antibody (YA1320)	WB, ICC/IF, IHC-P, FC	Human, Mouse

Related Diseases

Diseases

Alias

Deafness, Dystonia, And Cerebral Hypomyelination

Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	DDCH
Cadds	Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome
Contiguous Abcd1 Dxs1357e Deletion Syndrome	Zellweger-Like Contiguous Gene Deletion Syndrome
Contiguous Abcd1/Dxs1375e Deletion Syndrome	Deafness, Dystonia, Cerebral Hypomyelination
Contiguous Abcd1-Dxs1375e Deletion Syndrome

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy	ALD
Siemerling-Creutzfeldt Disease	X-Ald
X-Linked Cerebral Adrenoleukodystrophy	Bronze Schilder Disease
Melanodermic Leukodystrophy	Addison Disease And Cerebral Sclerosis
Adrenomyeloneuropathy, Adult	Diffuse Sclerosis
X-Cald	Adrenomyeloneuropathy
Encephalitis Periaxialis Concentrica	Encephalitis Periaxialis, Schilder'S
Sudanophilic Cerebral Sclerosis	Ald Childhood Cerebral Form
Adrenoleukodystrophy X-Linked Cerebral Form	Adrenoleukodystrophy Childhood Cerebral Form
Childhood Cerebral Ald	Schilder Disease
X-Linked Ald	Adrenoleukodystrophy, X-Linked
Amn	Diffuse Cerebral Sclerosis Of Schilder
Systemic Scleroderma	Balo'S Concentric Sclerosis
Ald - [Adrenoleukodystrophy]	Addison-Schilder

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
Intellectual Disability, X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 1

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01396	BCAP31 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BCAP31	VGNC	VGNC:60079
Rattus norvegicus	BCAP31	RGD	RGD:1302944
Macaca mulatta	BCAP31	VGNC	VGNC:70084
Bos taurus	BCAP31	VGNC	VGNC:26436
Mus musculus	BCAP31	MGD	MGI:1350933
Canis familiaris	BCAP31	VGNC	VGNC:38397

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