BCAP31 - B cell receptor associated protein 31 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10134

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

Bap31: B-cell receptor-associated protein 31-like (1 - 224)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
BCAP31 P51572 SH (1A) Human respiratory syncytial virus A Q77YB1 25854864
Intra
BCAP31 P51572 SEC61B Homo sapiens P60468
IF
18555783
Intra
BCAP31 P51572 SEC61B Homo sapiens P60468 18555783
Intra
BCAP31 P51572 TRAM1 Homo sapiens Q15629
IF
18555783
Intra
BCAP31 P51572 TRAM1 Homo sapiens Q15629 18555783
Intra
BCAP31 P51572 KLK6 Homo sapiens Q92876 32814053
Intra
BCAP31 P51572 KLK6 Homo sapiens Q92876 32814053
Intra
BCAP31 P51572 KLK6 Homo sapiens Q92876 32814053
Intra
BCAP31 P51572 BCAP29 Homo sapiens Q9UHQ4 35271311
Intra
BCAP31 P51572 BCAP29 Homo sapiens Q9UHQ4 30021884
Intra
BCAP31 P51572 BCAP29 Homo sapiens Q9UHQ4 33961781
Intra
BCAP31 P51572 FIS1 Homo sapiens Q9Y3D6 21183955
Intra
BCAP31 P51572 FIS1 Homo sapiens Q9Y3D6 21183955
Intra
BCAP31 P51572 CFTR Homo sapiens P13569 18555783
Intra
BCAP31 P51572 DERL1 Homo sapiens Q9BUN8 18555783
Intra
BCAP31 P51572 HACD2 Homo sapiens Q6Y1H2 15024066
Intra
BCAP31 P51572 TIMMDC1 Homo sapiens Q9NPL8 32296183
Intra
BCAP31 P51572 TIMMDC1 Homo sapiens Q9NPL8 32296183
Intra
BCAP31 P51572 TIMMDC1 Homo sapiens Q9NPL8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

BCAP31 Antibodies

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

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
Others BCAP31 NCBI