1. Gene
  2. SPPL2A - signal peptide peptidase like 2A Gene

SPPL2A - signal peptide peptidase like 2A Gene

中文名称:信号肽肽酶样 2A

种属: Homo sapiens

同用名: IMP3; PSL2; IMD86

基因 ID: 84888 | 基因类型: protein coding

关于 SPPL2A

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:50,702,266-50,765,706 (from NCBI)

This gene has 18 transcripts (splice variants), 194 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 15.8), duodenum (RPKM 10.9) and 25 other tissues.

功能概要

该基因编码天冬氨酸蛋白酶 GXGD 家族的成员,天冬氨酸蛋白酶是跨膜蛋白,具有位于跨膜区域内的两个保守催化基序,以及信号肽肽酶样蛋白酶 (SPPL) 家族的成员。这种蛋白质在所有主要的成人组织中都有表达,并定位于晚期内体隔室和溶酶体膜。该基因的假基因也位于 15 号染色体上。[RefSeq 提供,2012 年 2 月]

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]

SPPL2A 基因产物(1)

mRNA Protein Name
NM_032802.4 NP_116191.2 signal peptide peptidase-like 2A precursor
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 aspartic endopeptidase activity, intramembrane cleaving IDA
IDA: 通过直接分析推断
2313285 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
15385547 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in membrane protein ectodomain proteolysis IDA
IDA: 通过直接分析推断
16829951 GOA
involved in membrane protein intracellular domain proteolysis IDA
IDA: 通过直接分析推断
16829951 GOA
involved in membrane protein intracellular domain proteolysis IMP
IMP: 通过突变表型推断
16829952 GOA
involved in membrane protein proteolysis IDA
IDA: 通过直接分析推断
2313285 GOA
involved in regulation of immune response IMP
IMP: 通过突变表型推断
16829952 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi-associated vesicle membrane IDA
IDA: 通过直接分析推断
17965014 GOA
located in cytoplasmic side of endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15385547 GOA
located in late endosome IDA
IDA: 通过直接分析推断
16829952 GOA
located in lumenal side of endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15385547 GOA
located in membrane IDA
IDA: 通过直接分析推断
2313285 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

SPPL2A 蛋白结构

PA

PA: PA domain (63 - 151)

Peptidase_A22B

Peptidase_A22B: Signal peptide peptidase (212 - 491)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 520 a.a.
蛋白主名 其他名称

signal peptide peptidase-like 2A

IMP-3

SPPL2A 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
SPPL2A Q8TCT8 SGTA Homo sapiens O43765
Validated Y2H
25416956
种属内
SPPL2A Q8TCT8 SGTA Homo sapiens O43765
Y2H Array
32296183
种属内
SPPL2A Q8TCT8 SGTA Homo sapiens O43765
Y2H Prey Pooling
32296183
种属内
SPPL2A Q8TCT8 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
种属内
SPPL2A Q8TCT8 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
SPPL2A Q8TCT8 WFS1 Homo sapiens O76024
Y2H Array
32814053
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
Immunodeficiency 86

IMD86

Immunodeficiency 86, Mycobacteriosis, Autosomal Recessive

Immunodeficiency 86, Mycobacteriosis

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British

Fbd

Presenile Dementia With Spastic Ataxia

Familial British Dementia

Abri Amyloidosis

Cerebral Amyloid Angiopathy, British Type

Itm2b-Related Cerebral Amyloid Angiopathy 1

Familial Dementia, British Type

Cerebral Amyloid Angiopathy, Itm2b-Related 1

CAA-ITM2B1

Cerebral Amyloid Angiopathy British Type

Dementia, Familial, British

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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
Mus musculus SPPL2A MGD MGI:1913802
Felis catus SPPL2A VGNC VGNC:80835
Canis familiaris SPPL2A VGNC VGNC:46758
Bos taurus SPPL2A VGNC VGNC:35234
Rattus norvegicus SPPL2A RGD RGD:1563001