2. Gene
  3. GAPVD1 - GTPase activating protein and VPS9 domains 1 Gene

GAPVD1 - GTPase activating protein and VPS9 domains 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：GTPase 激活蛋白和 VPS9 结构域 1

种属: Homo sapiens

同用名: RAP6; GAPEX5; GAPex-5

基因 ID: 26130 | 基因类型: protein coding

关于 GAPVD1

Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38): 9:125,261,826-125,367,207 (from NCBI)

This gene has 19 transcripts (splice variants), 214 orthologues, 6 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 9.8) and 25 other tissues.

功能概要

启用 GTPase 激活蛋白结合活性和胍基核苷酸交换因子活性。参与蛋白质转运的调节。位于胞质溶胶和质膜中。 [由基因组资源联盟提供，2022 年 4 月]

Enables GTPase activating protein binding activity and guanyl-nucleotide exchange factor activity. Involved in regulation of protein transport. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

GAPVD1 基因产物(15)

mRNA Protein Name
NM_001282679.2 NP_001269608.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 1
NM_001282680.3 NP_001269609.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001282681.3 NP_001269610.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3
NM_001330777.3 NP_001317706.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 5
NM_001330778.3 NP_001317707.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 6
NM_001354293.2 NP_001341222.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 7
NM_001354294.2 NP_001341223.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354295.2 NP_001341224.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354296.2 NP_001341225.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354297.2 NP_001341226.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3
NM_001354298.2 NP_001341227.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 8
NM_001354299.2 NP_001341228.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354300.2 NP_001341229.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3
NM_001354301.2 NP_001341230.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_015635.4 NP_056450.2 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 4
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 GTPase activating protein binding IMP
IMP: 通过突变表型推断
16410077 GOA
enables guanyl-nucleotide exchange factor activity IMP
IMP: 通过突变表型推断
16410077 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15161933 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of protein transport IMP
IMP: 通过突变表型推断
16410077 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
16410077 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

GAPVD1 蛋白结构

RasGAP

RasGAP: GTPase-activator protein for Ras-like GTPase (153 - 352)

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (1374 - 1475)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1478 a.a.
蛋白主名 其他名称

GTPase-activating protein and VPS9 domain-containing protein 1

Rab5 exchange factor

GAPVD1 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
GAPVD1 Q14C86 YWHAZ Homo sapiens P63104
Pull Down
15161933
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
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1
Hypertensive Encephalopathy

Encephalopathy, Hypertensive
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05276 GAPVD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GAPVD1 RGD RGD:1307479
Macaca mulatta GAPVD1 VGNC VGNC:72767
Mus musculus GAPVD1 MGD MGI:1913941
Felis catus GAPVD1 VGNC VGNC:62461
Bos taurus GAPVD1 VGNC VGNC:29250
Canis familiaris GAPVD1 VGNC VGNC:41110
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