2. Gene
  3. RALGAPA1 - Ral GTPase activating protein catalytic subunit alpha 1 Gene

RALGAPA1 - Ral GTPase activating protein catalytic subunit alpha 1 Gene

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

中文名称：Ral GTPase 激活蛋白催化亚基 alpha 1

种属: Homo sapiens

同用名: p240; GRIPE; GARNL1; TULIP1; NEDHRIT; RalGAPalpha1

基因 ID: 253959 | 基因类型: protein coding

关于 RALGAPA1

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:35,538,356-35,809,295 (from NCBI)

This gene has 20 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues.

功能概要

该基因编码 RAL-GTPase 激活蛋白的一个主要亚基。小鼠中的一种类似蛋白质与 E12 结合，E12 是免疫球蛋白基因的转录调节因子。小鼠蛋白还通过在胰岛素刺激或肌肉收缩时与调节性 14-3-3 蛋白结合而在骨骼肌中发挥作用。已在 9 号染色体上鉴定出该基因的假基因。[RefSeq 提供，2016 年 10 月]

This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with Insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

RALGAPA1 基因产物(11)

mRNA Protein Name
NM_001283043.3 NP_001269972.1 ral GTPase-activating protein subunit alpha-1 isoform 3
NM_001283044.3 NP_001269973.1 ral GTPase-activating protein subunit alpha-1 isoform 4
NM_001330075.3 NP_001317004.1 ral GTPase-activating protein subunit alpha-1 isoform 5
NM_001346243.2 NP_001333172.1 ral GTPase-activating protein subunit alpha-1 isoform 1
NM_001346245.2 NP_001333174.1 ral GTPase-activating protein subunit alpha-1 isoform 4
NM_001346246.2 NP_001333175.1 ral GTPase-activating protein subunit alpha-1 isoform 6
NM_001346247.2 NP_001333176.1 ral GTPase-activating protein subunit alpha-1 isoform 7
NM_001346248.2 NP_001333177.1 ral GTPase-activating protein subunit alpha-1 isoform 5
NM_001346249.2 NP_001333178.1 ral GTPase-activating protein subunit alpha-1 isoform 8
NM_014990.3 NP_055805.1 ral GTPase-activating protein subunit alpha-1 isoform 1
NM_194301.4 NP_919277.2 ral GTPase-activating protein subunit alpha-1 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
19520869 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

RALGAPA1 蛋白结构

Rap_GAP

Rap_GAP: Rap/ran-GAP (1825 - 2004)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2036 a.a.
蛋白主名 其他名称

ral GTPase-activating protein subunit alpha-1

GAP-related interacting protein to E12

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation

NEDHRIT
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
Chromosome 14q11-Q22 Deletion Syndrome

14q11.2 Microdeletion Syndrome

Zahir-Friedman Syndrome

Del(14)(Q11.2)

Monosomy 14q11.2
Holoprosencephaly 8

HPE8

Holoprosencephaly-8
Hypotonia
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-RS11630 RALGAPA1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RALGAPA1 VGNC VGNC:76504
Felis catus RALGAPA1 VGNC VGNC:64483
Mus musculus RALGAPA1 MGD MGI:1931050
Rattus norvegicus RALGAPA1 RGD RGD:620642
Bos taurus RALGAPA1 VGNC VGNC:33701
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