HM13 - histocompatibility minor 13 Gene

中文名称：次要组织相容性 13

种属: Homo sapiens

同用名: H13; SPP; IMP1; PSL3; IMPAS; SPPL1; PSENL3; IMPAS-1; MSTP086

基因 ID: 81502 | 基因类型: protein coding

关于 HM13

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:31,514,442-31,569,543 (from NCBI)

This gene has 30 transcripts (splice variants), 214 orthologues and 4 paralogues. Ubiquitous expression in thyroid (RPKM 25.2), salivary gland (RPKM 22.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质定位于内质网，在某些信号肽从前体蛋白上切割下来后，可催化这些信号肽的膜内蛋白水解。这种活性是产生免疫系统识别的信号序列衍生的人淋巴细胞抗原-E 表位和加工丙型肝炎病毒核心蛋白所必需的。编码的蛋白质是一种完整的膜蛋白，具有早老素型天冬氨酸蛋白酶的序列基序特征。已发现该基因的多个转录变体编码几种不同的亚型。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal Peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HM13 基因产物(4)

mRNA	Protein	Name
NM_030789.4	NP_110416.1	minor histocompatibility antigen H13 isoform 1
NM_178580.3	NP_848695.1	minor histocompatibility antigen H13 isoform 2
NM_178581.3	NP_848696.1	minor histocompatibility antigen H13 isoform 3
NM_178582.3	NP_848697.1	minor histocompatibility antigen H13 isoform 4

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	25239945	GOA
enables aspartic endopeptidase activity, intramembrane cleaving	IMP IMP: 通过突变表型推断	16873890	GOA
enables peptidase activity	IDA IDA: 通过直接分析推断	14741365	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19720873	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	15385547	GOA
enables ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	25239945	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
NOT involved in membrane protein ectodomain proteolysis	IMP IMP: 通过突变表型推断	17965014	GOA
NOT 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	14741365	GOA
involved in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IMP IMP: 通过突变表型推断	25239945	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Derlin-1 retrotranslocation complex	IDA IDA: 通过直接分析推断	25239945	GOA
located in cytoplasmic side of endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	15385547	GOA
located in lumenal side of endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	15385547	GOA
located in rough endoplasmic reticulum	IDA IDA: 通过直接分析推断	15998642	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

HM13 蛋白结构

Peptidase_A22B

0
100
200
300
377 a.a.

蛋白主名

其他名称

minor histocompatibility antigen H13

intramembrane protease 1

HM13 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	HM13	Q8TCT9	RNF139	Homo sapiens	Q8WU17	BN-PAGE	25239945
种属内	HM13	Q8TCT9	RNF139	Homo sapiens	Q8WU17	Anti Tag CoIP	25239945
种属内	HM13	Q8TCT9	P4HB	Homo sapiens	P07237	Anti Bait CoIP	19942855
种属内	HM13	Q8TCT9	DERL1	Homo sapiens	Q9BUN8	Anti Tag CoIP	25239945
种属内	HM13	Q8TCT9	DERL1	Homo sapiens	Q9BUN8	BN-PAGE	25239945
种属内	HM13	Q8TCT9	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
种属内	HM13	Q8TCT9	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
种属内	HM13	Q8TCT9	LZTS2	Homo sapiens	Q9BRK4	Y2H Prey Pooling	25416956
种属内	HM13	Q8TCT9	XBP1	Homo sapiens	P17861-1	Anti Tag CoIP	25239945

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

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To	Hepatitis C Virus Infection, Response To Therapy Of
Hcv	Hcv, Susceptibility To
Hepatitis C Virus, Resistance To	Hepatitis C Virus, Response To Therapy Of
Resistance To Hepatitis C Virus

Hepatitis C

Chronic Hepatitis C	Hepatitis C Infection
Hepatitis Nona Nonb	Nanbh
Viral Hepatitis C	Hepatitis C Chronic
Hepatitis C, Chronic	Chronic Type C Viral Hepatitis
Chronic Hcv - [Hepatitis C Virus] Infection	Hepatitis C Nos
Hepatitis C Infection Nos	Hepatitis C-Related Cirrhosis
Type C Viral Hepatitis	Hep C Nos

Inclusion Conjunctivitis

Chlamydial Conjunctivitis	Inclusion Blennorrhoea
Paratrachoma	Adult Inclusion Conjunctivitis
Inclusion Blenorrhea	Conjunctivitis, Inclusion
Neonatal Chlamydial Conjunctivitis	Inclusion Conjunctivitis Of The Adult
Chronic Conjunctivitis Due To Chlamydia Trachomatis	Inclusion Conjunctivitis Due To Chlamydia Trachomatis
Acute Follicular Conjunctivitis, Chlamydial	Adult Chlamydial Keratoconjunctivitis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06222	HM13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	HM13	VGNC	VGNC:29868
Felis catus	HM13	VGNC	VGNC:80112
Rattus norvegicus	HM13	RGD	RGD:1308946
Mus musculus	HM13	MGD	MGI:95886
Macaca mulatta	HM13	VGNC	VGNC:81418
Canis familiaris	HM13	VGNC	VGNC:41702

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