1. Gene
  2. HM13 - histocompatibility minor 13 Gene

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

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

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

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