Homo sapiens Protein: HM13
Summary
InnateDB Protein IDBP-62952.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HM13
Protein Name histocompatibility (minor) 13
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000335294
InnateDB Gene IDBG-62948 (HM13)
Protein Structure
UniProt Annotation
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
Interactions
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
Gene Ontology

Molecular Function
Accession GO Term
GO:0004190 aspartic-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving
GO:0042803 protein homodimerization activity
Biological Process
GO:0033619 membrane protein proteolysis
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0071458 integral component of cytoplasmic side of endoplasmic reticulum membrane
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
Protein Structure and Domains
PDB ID
InterPro IPR006639 Presenilin/signal peptide peptidase
IPR007369 Peptidase A22B, signal peptide peptidase
PFAM PF04258
PRINTS
PIRSF
SMART SM00730
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TCT9
PhosphoSite PhosphoSite-Q8TCT9
TrEMBL
UniProt Splice Variant
Entrez Gene 81502
UniGene
RefSeq NP_848695
HUGO HGNC:16435
OMIM 607106
CCDS CCDS13183
HPRD 06166
IMGT
EMBL AF172086 AF483215 AF515663 AJ345029 AJ420895 AK074686 AK075283 AK314410 AL110115 AL121751 AY169310 AY169311 AY169312 BC008938 BC008959 BC062595 CH471077 DQ168450
GenPept AAH08938 AAH08959 AAH62595 AAM22076 AAN77099 AAO12535 AAO12536 AAO12537 AAQ13609 ABA56163 BAC11138 BAC11519 BAG37032 CAC87790 CAD13132 CAI19152 CAI19153 CAI19154 CAI20173 CAI20174 CAI20175 EAW76435 EAW76436 EAW76437 EAW76438