InnateDB Protein
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IDBP-233659.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HM13
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Protein Name
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histocompatibility (minor) 13
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000381237
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InnateDB Gene
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IDBG-62948 (HM13)
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Protein Structure
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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}.
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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}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
16
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006639
Presenilin/signal peptide peptidase
IPR007369
Peptidase A22B, signal peptide peptidase
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PFAM |
PF04258
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PRINTS |
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PIRSF |
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SMART |
SM00730
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TIGRFAMs |
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Modification |
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SwissProt |
Q8TCT9
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PhosphoSite |
PhosphoSite-Q8TCT9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
81502
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UniGene |
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RefSeq |
NP_848696
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HUGO |
HGNC:16435
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OMIM |
607106
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CCDS |
CCDS42861
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HPRD |
06166
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IMGT |
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EMBL |
AF172086
AF483215
AF515663
AJ345029
AJ420895
AK074686
AK075283
AK314410
AL110115
AL121751
AY169310
AY169311
AY169312
BC008938
BC008959
BC062595
CH471077
DQ168450
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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
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