HM13 - histocompatibility minor 13 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 81502

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 Verweise 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 Verweise 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 Verweise 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

Peptidase_A22B: Signal peptide peptidase (65 - 345)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS06222 HM13 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others HM13 NCBI