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  2. BCAP31 - B cell receptor associated protein 31 Gene

BCAP31 - B cell receptor associated protein 31 Gene

中文名称:B 细胞受体相关蛋白 31

种属: Homo sapiens

同用名: CDM; DDCH; BAP31; 6C6-AG; DXS1357E

基因 ID: 10134 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 B 细胞受体相关蛋白 31 超家族的成员。编码的蛋白质是内质网的多通道跨膜蛋白,参与膜蛋白从内质网到高尔基体的顺行转运和半胱天冬酶 8 介导的细胞凋亡。该基因的微缺失与连续的 ABCD1/DXS1375E 缺失综合征 (CADDS) 相关,这是一种新生儿疾病。该基因的可变剪接导致多个转录变体。已在 16 号染色体上鉴定出两个相关的假基因。[RefSeq 提供,2012 年 1 月]

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 基因产物(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 蛋白结构

Bap31

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

  • 0
  • 100
  • 200
  • 246 a.a.
蛋白主名 其他名称

B-cell receptor-associated protein 31

6C6-AG tumor-associated antigen

重组 BCAP31 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71684 BCAP31 Protein, Human (GST) P51572 (2S-243K) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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