2. Gene
  3. GSAP - gamma-secretase activating protein Gene

GSAP - gamma-secretase activating protein Gene

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

中文名称：γ-分泌酶激活蛋白

种属: Homo sapiens

同用名: PION

基因 ID: 54103 | 基因类型: protein coding

关于 GSAP

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:77,310,751-77,416,630 (from NCBI)

This gene has 13 transcripts (splice variants) and 216 orthologues. Ubiquitous expression in lung (RPKM 10.9), spleen (RPKM 10.4) and 25 other tissues.

功能概要

神经毒性β淀粉样蛋白的积累是阿尔茨海默病 (AD；MIM 104300) 的主要标志。 β 淀粉样蛋白的形成由 γ 分泌酶 (参见 PSEN1；MIM 104311) 催化，这是一种具有多种底物的蛋白酶。 PION，或 GSAP，通过涉及其与 γ 分泌酶及其底物相互作用的机制选择性地增加淀粉样蛋白 β 的产生，淀粉样蛋白 β 前体蛋白 (APP；MIM 104760) C 末端片段 (APP-CTF) (He 等人) al., 2010 [PubMed 20811458]) .[OMIM 提供，2010 年 11 月]

Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]

GSAP 基因产物(7)

mRNA Protein Name
NM_001350896.2 NP_001337825.1 gamma-secretase-activating protein isoform b
NM_001350897.2 NP_001337826.1 gamma-secretase-activating protein isoform c
NM_001350898.2 NP_001337827.1 gamma-secretase-activating protein isoform d
NM_001350899.2 NP_001337828.1 gamma-secretase-activating protein isoform e
NM_001350900.2 NP_001337829.1 gamma-secretase-activating protein isoform f
NM_001350901.2 NP_001337830.1 gamma-secretase-activating protein isoform g
NM_017439.4 NP_059135.2 gamma-secretase-activating protein isoform a
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 amyloid-beta binding IDA
IDA: 通过直接分析推断
20811458 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20811458 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of amyloid-beta formation IDA
IDA: 通过直接分析推断
20811458 GOA
involved in regulation of proteolysis IDA
IDA: 通过直接分析推断
20811458 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in trans-Golgi network IDA
IDA: 通过直接分析推断
20811458 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

GSAP 蛋白结构

GSAP-16

GSAP-16: gamma-Secretase-activating protein C-term (635 - 749)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 854 a.a.
蛋白主名 其他名称

gamma-secretase-activating protein

pigeon homolog

GSAP 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
GSAP A4D1B5 APP Homo sapiens P05067
Anti Bait CoIP
20811458
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
Pontocerebellar Hypoplasia, Type 3

Pontocerebellar Hypoplasia Type 3

Cerebellar Atrophy With Progressive Microcephaly

PCH3

Clam

Pch With Optic Atrophy

Pontocerebellar Hypoplasia 3

Hypoplasia, Pontocerebellar, Type 3
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-RS05851 GSAP Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GSAP RGD RGD:1563271
Mus musculus GSAP MGD MGI:2442259
Bos taurus GSAP VGNC VGNC:29671
Macaca mulatta GSAP VGNC VGNC:81321
Canis familiaris GSAP VGNC VGNC:41524
Felis catus GSAP VGNC VGNC:102596
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