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  2. TSPOAP1 - TSPO associated protein 1 Gene

TSPOAP1 - TSPO associated protein 1 Gene

中文名称:TSPO 相关蛋白 1

种属: Homo sapiens

同用名: PRAX1; BZRAP1; PBR-IP; PRAX-1; RIMBP1; RIM-BP1

基因 ID: 9256 | 基因类型: protein coding

关于 TSPOAP1

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,301,231-58,328,795 (from NCBI)

This gene has 11 transcripts (splice variants), 220 orthologues, 4 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 13.4), bone marrow (RPKM 7.4) and 23 other tissues.

功能概要

启用苯并二氮卓受体结合活性。预计参与突触前细胞溶质钙离子浓度的调节。位于线粒体中。 [由基因组资源联盟提供,2022 年 4 月]

Enables benzodiazepine receptor binding activity. Predicted to be involved in regulation of presynaptic cytosolic calcium ion concentration. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

TSPOAP1 基因产物(3)

mRNA Protein Name
NM_001261835.2 NP_001248764.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform c
NM_004758.4 NP_004749.2 peripheral-type benzodiazepine receptor-associated protein 1 isoform a
NM_024418.3 NP_077729.1 peripheral-type benzodiazepine receptor-associated protein 1 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 benzodiazepine receptor binding IPI
IPI: 通过物理相互作用推断
9915832 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21078624 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of neurotransmitter secretion IMP
IMP: 通过突变表型推断
33539324 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
9915832 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
9915832 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

TSPOAP1 蛋白结构

SH3_9

SH3_9: Variant SH3 domain (666 - 716)

SH3_2

SH3_2: Variant SH3 domain (1630 - 1691)

SH3_2

SH3_2: Variant SH3 domain (1769 - 1827)

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  • 1857 a.a.
蛋白主名 其他名称

peripheral-type benzodiazepine receptor-associated protein 1

RIMS-binding protein 1

TSPOAP1 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
种属内
TSPOAP1 O95153 CACNA1A Homo sapiens O00555
Y2H
21078624
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
Segawa Syndrome, Autosomal Recessive

Tyrosine Hydroxylase Deficiency

Dystonia, Dopa-Responsive, Autosomal Recessive

Parkinsonism, Infantile, Autosomal Recessive

Segawa Syndrome, Recessive

Dyt5b

Th-Deficient Drd

Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Autosomal Recessive Infantile Parkinsonism

Autosomal Recessive Dopa-Responsive Dystonia

Autosomal Recessive Dopa Responsive Dystonia

Dopa-Responsive Dystonia, Autosomal Recessive

Dopa Responsive Dystonia, Autosomal Recessive

Dyt/Park-Th

Dystonia, Dopa Responsive, Autosomal Recessive

Th Deficiency

Autosomal Recessive Segawa Syndrome

Thy

Segawa Syndrome Autosomal Recessive

ARSEGS

Thd

Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

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
Rattus norvegicus TSPOAP1 RGD RGD:708563
Mus musculus TSPOAP1 MGD MGI:2450877
Bos taurus TSPOAP1 VGNC VGNC:55881
Macaca mulatta TSPOAP1 VGNC VGNC:79054
Canis familiaris TSPOAP1 VGNC VGNC:47927
Felis catus TSPOAP1 VGNC VGNC:66639