HM13

HM13
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1INQ, 1JUF
Identifiers
Aliases	HM13, H13, IMP1, IMPAS, IMPAS-1, MSTP086, PSENL3, PSL3, SPP, SPPL1, dJ324O17.1, histocompatibility (minor) 13, histocompatibility minor 13
External IDs	OMIM: 607106; MGI: 95886; HomoloGene: 7749; GeneCards: HM13; OMA:HM13 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.21 Start 31,514,410 bp[1] End 31,577,923 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H1|2 75.41 cM Start 152,511,381 bp[2] End 152,550,590 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas stromal cell of endometrium bone marrow cells anterior pituitary islet of Langerhans minor salivary glands left adrenal gland left adrenal cortex canal of the cervix right adrenal gland Top expressed in seminal vesicula lacrimal gland stroma of bone marrow salivary gland decidua Rostral migratory stream parotid gland molar submandibular gland internal carotid artery More reference expression data BioGPS n/a
Gene ontology Molecular function protein homodimerization activity aspartic-type endopeptidase activity aspartic endopeptidase activity, intramembrane cleaving peptidase activity protein binding hydrolase activity ubiquitin protein ligase binding Cellular component integral component of membrane rough endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of cytoplasmic side of endoplasmic reticulum membrane plasma membrane Derlin-1 retrotranslocation complex integral component of lumenal side of endoplasmic reticulum membrane Golgi-associated vesicle membrane lysosomal membrane endoplasmic reticulum cell surface Biological process membrane protein proteolysis proteolysis membrane protein proteolysis involved in retrograde protein transport, ER to cytosol membrane protein intracellular domain proteolysis membrane protein ectodomain proteolysis protein homotetramerization signal peptide processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 81502 14950 Ensembl ENSG00000101294 ENSMUSG00000019188 UniProt Q8TCT9 Q9D8V0 RefSeq (mRNA) NM_030789 NM_178580 NM_178581 NM_178582 NM_001159551 NM_001159552 NM_001159553 NM_010376 RefSeq (protein) NP_110416 NP_848695 NP_848696 NP_848697 NP_001153023 NP_001153024 NP_001153025 NP_034506 Location (UCSC) Chr 20: 31.51 – 31.58 Mb Chr 2: 152.51 – 152.55 Mb PubMed search [3] [4]
Wikidata
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Minor histocompatibility antigen H13 is a protein that in humans is encoded by the HM13 gene.^[5][6][7]

Function

The minor histocompatibility antigen 13 is a nonamer peptide that originates from a protein encoded by the H13 gene.^[8][9] The peptide is generated by the cytosol by the proteasome, enters the endoplasmic reticulum (ER) lumen by the transporter associated with antigen processing (TAP) and is presented on the cell surface on H2-D^b major histocompatibility antigen I (MHC I) molecules. The alloreactivity, which leads to transplant rejection in mice, is conferred by Val/Ile polymorphism in the ‘SSV(V/I)GVWYL’ peptide.^[10] The orthologue gene in humans is called HM13. If a related polymorphism exists, and if the HM13 serves as a Minor histocompatibility antigen, however, remains to be addressed.

The protein encoded by the M13/HM13 gene is the signal peptide peptidase (SPP), an ER-resident intramembrane protease.^[5] SPP 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.^[7]

References

Further reading