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  2. BCAP31 - B cell receptor associated protein 31 Gene

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

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

Recombinant BCAP31 Proteins

Cat. No. Product Name Accession Purity
HY-P71684 BCAP31 Protein, Human (GST) P51572 (2S-243K) ≥95%

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