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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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9334338 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
18555783 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
14741744 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: 通过直接分析推断
31206022 GOA
located in perinuclear endoplasmic reticulum IDA
IDA: 通过直接分析推断
25854864 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
8706661 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

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

BCAP31 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

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