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  2. SGSM1 - small G protein signaling modulator 1 Gene

SGSM1 - small G protein signaling modulator 1 Gene

中文名称:小 G 蛋白信号调节因子 1

种属: Homo sapiens

同用名: RUTBC2

基因 ID: 129049 | 基因类型: protein coding

关于 SGSM1

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:24,806,211-24,927,578 (from NCBI)

This gene has 6 transcripts (splice variants), 275 orthologues and 45 paralogues. Broad expression in brain (RPKM 6.6), heart (RPKM 5.6) and 15 other tissues.

功能概要

启用 GTPase 激活剂活性和小 GTPase 结合活性。预计参与 GTPase 活性的激活和细胞内蛋白质转运。预计在 RNA 聚合酶 II 的转录正调控上游或正调控内起作用。位于细胞质囊泡膜和细胞质中。 [由基因组资源联盟提供,2022 年 4 月]

Enables GTPase activator activity and small GTPase binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasmic vesicle membrane and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

SGSM1 基因产物(4)

mRNA Protein Name
NM_001039948.4 NP_001035037.1 small G protein signaling modulator 1 isoform 1
NM_001098497.3 NP_001091967.1 small G protein signaling modulator 1 isoform 3
NM_001098498.3 NP_001091968.1 small G protein signaling modulator 1 isoform 4
NM_133454.4 NP_597711.1 small G protein signaling modulator 1 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activator activity IDA
IDA: 通过直接分析推断
22637480 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
22637480 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic vesicle membrane IDA
IDA: 通过直接分析推断
22637480 GOA
located in cytosol IDA
IDA: 通过直接分析推断
22637480 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

SGSM1 蛋白结构

RUN

RUN: RUN domain (44 - 188)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (933 - 1104)

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  • 1000
  • 1148 a.a.
蛋白主名 其他名称

small G protein signaling modulator 1

RUN and TBC1 domain containing 2

SGSM1 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
SGSM1 Q2NKQ1 CETN1 Homo sapiens Q12798 33961781
种属内
SGSM1 Q2NKQ1 CETN1 Homo sapiens Q12798 31515488
种属间: 跨种属相互作用 种属内: 同种属相互作用

SGSM1 抗体

目录号 产品名 应用 反应物种
HY-P82201 SGSM1 Antibody (YA1946) WB, ICC/IF Human

关联疾病

疾病名称 别名
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Autosomal Dominant Adult-Onset Proximal Sma

Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type

Finkel Disease

Smafk

Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant

Autosomal Dominant Adult Proximal Spinal Muscular Atrophy

Finkel Late-Adult Type Sma

Pontocerebellar Hypoplasia, Type 1a

Pontocerebellar Hypoplasia Type 1a

PCH1A

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pch1

Pontocerebellar Hypoplasia 1a

Hypoplasia, Pontocerebellar, Type 1a

Pontocerebellar Hypoplasia Type 1

Enterobiasis

Oxyuriasis

Pinworm Infection

Enterobius Vermicularis Infection

Threadworm Infection

Oxyuris Vermicularis Infection

Enterobiosis

Pinworm

Pinworm Disease

Seatworm Infection

Enterobiasis Threadworm

Pinworm Infestation

Seatworm

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

Kugelberg-Welander Syndrome, Autosomal Dominant

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

Sma-Led

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Dominant

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
Canis familiaris SGSM1 VGNC VGNC:46105
Mus musculus SGSM1 MGD MGI:107320
Rattus norvegicus SGSM1 RGD RGD:1308178
Felis catus SGSM1 VGNC VGNC:80487
Macaca mulatta SGSM1 VGNC VGNC:77336
Bos taurus SGSM1 VGNC VGNC:34550