HM13 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | HM13 |
| Official Name | histocompatibility minor 13 [Source:HGNC Symbol;Acc:HGNC:16435] |
| Ensembl ID | ENSG00000101294 |
| Bio databases IDs | |
| Aliases | histocompatibility minor 13, signal peptide peptidase beta, presenilin-like protein 3, intramembrane protease, signal peptide peptidase like 1 |
| Synonyms | 1200006O09Rik, 4930443L17Rik, 5031424B04Rik, H13, histocompatibility 13, histocompatibility minor 13, IMP1, IMPAS, IMPAS-1, MSTP086, PSENL3, PSL3, SPP, SPPL1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HM13 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aspartic endopeptidase, intramembrane cleaving
- ubiquitin protein ligase binding
- peptidase
- protein homodimerization
- protein binding
- Signal peptide peptidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
role in cell
- production in
- molecular cleavage in
- response by
- senescence
- endoplasmic reticulum-associated degradation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- cell surface
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HM13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane protein ectodomain proteolysis
- in utero embryonic development
- membrane protein intracellular domain proteolysis
- membrane protein proteolysis
- cellular response to oxidative stress
- signal peptide processing
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- rough endoplasmic reticulum
- endoplasmic reticulum
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein homodimerization activity
- protein binding
- peptidase activity
- aspartic endopeptidase activity, intramembrane cleaving