|
InnateDB Protein
|
IDBP-62956.7
|
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
|
Gene Symbol
|
HM13
|
|
Protein Name
|
histocompatibility (minor) 13
|
|
Synonyms
|
|
|
Species
|
Homo sapiens
|
|
Ensembl Protein
|
ENSP00000341347
|
|
InnateDB Gene
|
IDBG-62948 (HM13)
|
|
Protein Structure
|
|
| Function |
Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides. May play a role in graft rejection (By similarity). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein. Involved in the intramembrane cleavage of the integral membrane protein PSEN1. {ECO:0000250, ECO:0000269PubMed:11714810, ECO:0000269PubMed:12077416, ECO:0000269PubMed:12145199, ECO:0000269PubMed:14741365}.
|
| Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.Isoform 4: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
|
| Disease Associations |
|
| Tissue Specificity |
Widely expressed with highest levels in kidney, liver, placenta, lung, leukocytes and small intestine and reduced expression in heart and skeletal muscle. Expressed abundantly in the CNS with highest levels in thalamus and medulla. {ECO:0000269PubMed:12139484, ECO:0000269PubMed:12972007}.
|
| Comments |
|
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
16
[view]
|
| Protein-Protein |
16
[view]
|
| Protein-DNA |
0
|
| Protein-RNA |
0
|
| DNA-DNA |
0
|
| RNA-RNA |
0
|
| DNA-RNA |
0
|
|
|
|
Molecular Function |
| Accession |
GO Term |
|
GO:0004190
|
aspartic-type endopeptidase activity
|
|
| Biological Process |
|
| Cellular Component |
|
| PDB ID |
|
| InterPro |
IPR006639
Presenilin/signal peptide peptidase
IPR007369
Peptidase A22B, signal peptide peptidase
|
| PFAM |
PF04258
|
| PRINTS |
|
| PIRSF |
|
| SMART |
SM00730
|
| TIGRFAMs |
|
| Modification |
|
| SwissProt |
|
| PhosphoSite |
PhosphoSite-Q8TCT9
|
| TrEMBL |
|
| UniProt Splice Variant |
|
| Entrez Gene |
81502
|
| UniGene |
|
| RefSeq |
|
| HUGO |
HGNC:16435
|
| OMIM |
607106
|
| CCDS |
|
| HPRD |
06166
|
| IMGT |
|
| EMBL |
|
| GenPept |
|
|
|
|
Version 5.4