Homo sapiens Protein: HMHA1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-13716.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | HMHA1 | ||||||||||||||||||
Protein Name | histocompatibility (minor) HA-1 | ||||||||||||||||||
Synonyms | ARHGAP45; HA-1; HLA-HA1; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000316772 | ||||||||||||||||||
InnateDB Gene | IDBG-13714 (HMHA1) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | GTPase activator for the Rho-type GTPases. {ECO:0000305}.Precursor of the histocompatibility antigen HA-1. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA- identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. Specifically, mismatching for mHag HA-1 which is recognized as immunodominant, is shown to be associated with the development of severe GVHD after HLA-identical BMT. HA-1 is presented to the cell surface by MHC class I HLA-A*0201, but also by other HLA-A alleles. This complex specifically elicits donor- cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL. {ECO:0000269PubMed:12601144, ECO:0000269PubMed:8260714, ECO:0000269PubMed:8532022, ECO:0000269PubMed:9798702}. | ||||||||||||||||||
Subcellular Localization | |||||||||||||||||||
Disease Associations | |||||||||||||||||||
Tissue Specificity | Expressed on cells of the hematopoietic lineage. Detected in dendritic cells and epidermal Langerhans cells. Expressed in peripheral blood mononuclear cells, in all leukemia/lymphoma cell lines. Detected also in some solid tumors and tissues such as cancerous and non-cancerous tissue. {ECO:0000269PubMed:11965046, ECO:0000269PubMed:8843592}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000198
Rho GTPase-activating protein domain IPR001060 FCH domain IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain IPR008936 Rho GTPase activation protein |
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PFAM |
PF00620
PF00611 PF00130 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00324
SM00055 SM00109 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q92619 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q92619 | ||||||||||||||||||
TrEMBL | O78181 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 23526 | ||||||||||||||||||
UniGene | Hs.465521 | ||||||||||||||||||
RefSeq | NP_036424 | ||||||||||||||||||
HUGO | HGNC:17102 | ||||||||||||||||||
OMIM | 601155 | ||||||||||||||||||
CCDS | CCDS32863 | ||||||||||||||||||
HPRD | 03097 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC004151 AC011558 AC093066 AF092537 AF207595 AF207596 AF207597 AF236756 AF308045 AF308046 AF308047 AF308048 AF308049 AF308050 AF308051 AF308052 AF308053 AF308054 AF308055 AF308056 AF308057 AF308058 AF308059 AF308060 AF308061 AF308062 AF308063 AF308064 AF308065 AF308066 AF311102 AK300341 BC048129 BC065223 CH471139 D86976 | ||||||||||||||||||
GenPept | AAC03237 AAC64140 AAF91292 AAG02014 AAG02015 AAG02016 AAH48129 AAH65223 AAN04658 BAA13212 BAG62086 EAW69551 | ||||||||||||||||||