HM13 - histocompatibility minor 13 Gene

Homo sapiens

Also known as H13; SPP; IMP1; PSL3; IMPAS; SPPL1; PSENL3; IMPAS-1; MSTP086

Gene ID: 81502 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables aspartic endopeptidase activity, intramembrane cleaving	IDA IDA: Inferred from direct assay	25239945	GOA
enables aspartic endopeptidase activity, intramembrane cleaving	IMP IMP: Inferred from mutant phenotype	16873890	GOA
enables peptidase activity	IDA IDA: Inferred from direct assay	14741365	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19720873	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15385547	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	25239945	GOA

Biological Process GO Annotation	Evidence	Reference	Source
NOT involved in membrane protein ectodomain proteolysis	IMP IMP: Inferred from mutant phenotype	17965014	GOA
NOT involved in membrane protein intracellular domain proteolysis	IMP IMP: Inferred from mutant phenotype	16829952	GOA
involved in membrane protein proteolysis	IDA IDA: Inferred from direct assay	14741365	GOA
involved in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	25239945	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Derlin-1 retrotranslocation complex	IDA IDA: Inferred from direct assay	25239945	GOA
located in cytoplasmic side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in lumenal side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in rough endoplasmic reticulum	IDA IDA: Inferred from direct assay	15998642	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HM13 Protein Structure

Peptidase_A22B

0
100
200
300
377 a.a.

Protein Preferred Names

Protein Names

minor histocompatibility antigen H13

intramembrane protease 1

HM13 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HM13	Q8TCT9	RNF139	Homo sapiens	Q8WU17	BN-PAGE	25239945
Intra	HM13	Q8TCT9	RNF139	Homo sapiens	Q8WU17	Anti Tag CoIP	25239945
Intra	HM13	Q8TCT9	P4HB	Homo sapiens	P07237	Anti Bait CoIP	19942855
Intra	HM13	Q8TCT9	DERL1	Homo sapiens	Q9BUN8	Anti Tag CoIP	25239945
Intra	HM13	Q8TCT9	DERL1	Homo sapiens	Q9BUN8	BN-PAGE	25239945
Intra	HM13	Q8TCT9	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
Intra	HM13	Q8TCT9	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	HM13	Q8TCT9	LZTS2	Homo sapiens	Q9BRK4	Y2H Prey Pooling	25416956
Intra	HM13	Q8TCT9	XBP1	Homo sapiens	P17861-1	Anti Tag CoIP	25239945

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06222	HM13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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