2. Gene
  3. APH1B - aph-1 homolog B, gamma-secretase subunit Gene

APH1B - aph-1 homolog B, gamma-secretase subunit Gene

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

中文名称：aph-1 同系物 B，γ-分泌酶亚单位

种属: Homo sapiens

同用名: PSFL; APH-1B; PRO1328; TAAV688; aph-1beta

基因 ID: 83464 | 基因类型: protein coding

关于 APH1B

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:63,277,605-63,309,126 (from NCBI)

This gene has 10 transcripts (splice variants), 192 orthologues and 1 paralogue. Broad expression in testis (RPKM 23.1), thyroid (RPKM 13.1) and 22 other tissues.

功能概要

该基因编码一种多通道跨膜蛋白，该蛋白是γ-分泌酶复合物的功能成分，该复合物还包含早老素和 nicastrin。该蛋白质代表复合物中早老素全蛋白的稳定辅助因子。 γ-分泌酶复合物催化整合蛋白如缺口受体和β-淀粉样蛋白前体蛋白的裂解。[RefSeq 提供，2011 年 9 月]

This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as Notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]

APH1B 基因产物(2)

mRNA Protein Name
NM_001145646.2 NP_001139118.1 gamma-secretase subunit APH-1B isoform 2
NM_031301.4 NP_112591.2 gamma-secretase subunit APH-1B isoform 1
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 endopeptidase activator activity IGI
IGI: 通过遗传相互作用推断
12763021 GOA
enables endopeptidase activator activity IMP
IMP: 通过突变表型推断
12297508 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12297508 GOA
enables protein-macromolecule adaptor activity IMP
IMP: 通过突变表型推断
12297508 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Notch receptor processing IDA
IDA: 通过直接分析推断
27608597 GOA
involved in amyloid precursor protein catabolic process IDA
IDA: 通过直接分析推断
27608597 GOA
involved in amyloid precursor protein catabolic process IGI
IGI: 通过遗传相互作用推断
12763021 GOA
involved in amyloid-beta formation IDA
IDA: 通过直接分析推断
27608597 GOA
involved in amyloid-beta formation IGI
IGI: 通过遗传相互作用推断
12763021 GOA
involved in positive regulation of endopeptidase activity IGI
IGI: 通过遗传相互作用推断
12763021 GOA
involved in positive regulation of endopeptidase activity IMP
IMP: 通过突变表型推断
12297508 GOA
acts upstream of or within protein processing IDA
IDA: 通过直接分析推断
12297508 GOA
involved in protein processing IDA
IDA: 通过直接分析推断
27608597 GOA
involved in protein processing IGI
IGI: 通过遗传相互作用推断
12763021 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of gamma-secretase complex IDA
IDA: 通过直接分析推断
12297508 GOA
part of gamma-secretase complex IGI
IGI: 通过遗传相互作用推断
12763021 GOA
located in membrane IDA
IDA: 通过直接分析推断
12297508 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

APH1B 蛋白结构

Aph-1

Aph-1: Aph-1 protein (2 - 245)

  • 0
  • 100
  • 200
  • 257 a.a.
蛋白主名 其他名称

gamma-secretase subunit APH-1B

APH1B gamma secretase subunit

关联疾病

疾病名称 别名
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-156011 PSEN1-IN-1 Inhibitor / 否
HY-156012 PSEN1-IN-2 Inhibitor / 否
HY-RS00818 APH1B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris APH1B VGNC VGNC:58291
Bos taurus APH1B VGNC VGNC:26014
Rattus norvegicus APH1B RGD RGD:1562468
Macaca mulatta APH1B VGNC VGNC:69891
Mus musculus APH1B MGD MGI:3522097
Felis catus APH1B VGNC VGNC:104358
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