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Aliases for HMHA1 Gene

Aliases for HMHA1 Gene

  • Histocompatibility (Minor) HA-1 2 3 5
  • Minor Histocompatibility Antigen HA-1 3
  • ARHGAP45 3
  • KIAA0223 4
  • HLA-HA1 3
  • HA-1 3

External Ids for HMHA1 Gene

Previous GeneCards Identifiers for HMHA1 Gene

  • GC19P001019
  • GC19P000841

Summaries for HMHA1 Gene

GeneCards Summary for HMHA1 Gene

HMHA1 (Histocompatibility (Minor) HA-1) is a Protein Coding gene. Diseases associated with HMHA1 include Hematopoietic Stem Cell Transplantation and Acute Graft Versus Host Disease. Among its related pathways are Signaling by Rho GTPases and Signaling by GPCR. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ABR.

UniProtKB/Swiss-Prot for HMHA1 Gene

  • GTPase activator for the Rho-type GTPases.

  • 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.

Gene Wiki entry for HMHA1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMHA1 Gene

Genomics for HMHA1 Gene

Regulatory Elements for HMHA1 Gene

Enhancers for HMHA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HMHA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HMHA1 Gene

Chromosome:
19
Start:
1,065,923 bp from pter
End:
1,087,831 bp from pter
Size:
21,909 bases
Orientation:
Plus strand

Genomic View for HMHA1 Gene

Genes around HMHA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMHA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMHA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMHA1 Gene

Proteins for HMHA1 Gene

  • Protein details for HMHA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92619-HMHA1_HUMAN
    Recommended name:
    Minor histocompatibility protein HA-1
    Protein Accession:
    Q92619
    Secondary Accessions:
    • B4DTS4
    • F6QP70
    • Q6P189
    • Q7LE26
    • Q86WS1
    • Q8HX84
    • Q9GJN9
    • Q9GJP0
    • Q9GJP1
    • Q9MY24

    Protein attributes for HMHA1 Gene

    Size:
    1136 amino acids
    Molecular mass:
    124614 Da
    Quaternary structure:
    • HA-1 forms a complex with MHC class I HLA-A*0201.
    Miscellaneous:
    • Infusion of lymphocyte from mHag HA-1-negative donors results in a durable remission in mHag HA-1-positive patients with leukemia or multiple myeloma.
    SequenceCaution:
    • Sequence=BAA13212.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HMHA1 Gene

    Alternative splice isoforms for HMHA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMHA1 Gene

Proteomics data for HMHA1 Gene at MOPED

Post-translational modifications for HMHA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for HA1

No data available for DME Specific Peptides for HMHA1 Gene

Domains & Families for HMHA1 Gene

Protein Domains for HMHA1 Gene

Suggested Antigen Peptide Sequences for HMHA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92619

UniProtKB/Swiss-Prot:

HMHA1_HUMAN :
  • Contains 1 F-BAR domain.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • Contains 1 F-BAR domain.
  • Contains 1 Rho-GAP domain.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with HMHA1: view

Function for HMHA1 Gene

Molecular function for HMHA1 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the Rho-type GTPases.
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for HMHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
genes like me logo Genes that share ontologies with HMHA1: view
genes like me logo Genes that share phenotypes with HMHA1: view

Animal Model Products

CRISPR Products

miRNA for HMHA1 Gene

miRTarBase miRNAs that target HMHA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HMHA1 Gene

Localization for HMHA1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMHA1 Gene COMPARTMENTS Subcellular localization image for HMHA1 gene
Compartment Confidence
cytosol 5
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for HMHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HMHA1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HMHA1 Gene

Pathways & Interactions for HMHA1 Gene

genes like me logo Genes that share pathways with HMHA1: view

Pathways by source for HMHA1 Gene

Gene Ontology (GO) - Biological Process for HMHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with HMHA1: view

No data available for SIGNOR curated interactions for HMHA1 Gene

Drugs & Compounds for HMHA1 Gene

(4) Additional Compounds for HMHA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with HMHA1: view

Transcripts for HMHA1 Gene

Unigene Clusters for HMHA1 Gene

Histocompatibility (minor) HA-1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMHA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - - - - - - - - - - - -
SP11:

ExUns: 23 ^ 24a · 24b · 24c · 24d ^ 25a · 25b · 25c ^ 26 ^ 27a · 27b · 27c
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7: -
SP8: - -
SP9: -
SP10:
SP11:

Relevant External Links for HMHA1 Gene

GeneLoc Exon Structure for
HMHA1
ECgene alternative splicing isoforms for
HMHA1

Expression for HMHA1 Gene

mRNA expression in normal human tissues for HMHA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMHA1 Gene

This gene is overexpressed in Whole Blood (x26.9) and Spleen (x5.4).

Protein differential expression in normal tissues from HIPED for HMHA1 Gene

This gene is overexpressed in Lymph node (16.7), Peripheral blood mononuclear cells (15.1), Blymphocyte (9.0), and Tlymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HMHA1 Gene



SOURCE GeneReport for Unigene cluster for HMHA1 Gene Hs.465521

mRNA Expression by UniProt/SwissProt for HMHA1 Gene

Q92619-HMHA1_HUMAN
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.
genes like me logo Genes that share expression patterns with HMHA1: view

Protein tissue co-expression partners for HMHA1 Gene

- Elite partner

Primer Products

Orthologs for HMHA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HMHA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HMHA1 35
  • 82.36 (n)
  • 81.68 (a)
HMHA1 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMHA1 35
  • 83.17 (n)
  • 78.84 (a)
HMHA1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmha1 35
  • 80.26 (n)
  • 83.56 (a)
Hmha1 16
Hmha1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HMHA1 35
  • 93.3 (n)
  • 91.58 (a)
HMHA1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmha1 35
  • 79.9 (n)
  • 83.92 (a)
oppossum
(Monodelphis domestica)
Mammalia HMHA1 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMHA1 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMHA1 35
  • 74.2 (n)
  • 72.43 (a)
HMHA1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMHA1 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmha1 35
  • 60.16 (n)
  • 61.07 (a)
Str.11397 35
zebrafish
(Danio rerio)
Actinopterygii hmha1b 35
  • 65.02 (n)
  • 63.05 (a)
hmha1 36
  • 52 (a)
OneToMany
HMHA1 (1 of 3) 36
  • 52 (a)
OneToMany
HMHA1 (3 of 3) 36
  • 46 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11163 35
worm
(Caenorhabditis elegans)
Secernentea spv-1 36
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGA1 36
  • 15 (a)
ManyToMany
RGA2 36
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for HMHA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HMHA1 Gene

ENSEMBL:
Gene Tree for HMHA1 (if available)
TreeFam:
Gene Tree for HMHA1 (if available)

Paralogs for HMHA1 Gene

Paralogs for HMHA1 Gene

genes like me logo Genes that share paralogs with HMHA1: view

Variants for HMHA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HMHA1 Gene

HMHA1_HUMAN-Q92619
The HA-1H allele is presented on the cell surface and recognized by CTL, whereas the HA-1R allele is poorly represented by HLA-A and non-immunogenic, although HA-1R allelic frequency is the highest (PubMed:9820595, PubMed:16399573).

Sequence variations from dbSNP and Humsavar for HMHA1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1801284 - 1,068,739(+) GTTGC(A/G)TGACG reference, missense
rs2074442 - 1,074,001(+) CTGGA(A/T)GACTG upstream-variant-2KB, reference, missense
rs7251797 - 1,077,986(+) CAGGC(A/G)GCACG reference, missense
rs36084354 - 1,079,960(-) GTCTG(C/T)ATATG reference, missense
rs34569196 - 1,082,978(-) CAGGG(C/G)CACCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HMHA1 Gene

Variant ID Type Subtype PubMed ID
dgv3513n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv3560n71 CNV Loss 21882294
nsv9662 CNV Gain 18304495
nsv469845 CNV Loss 16826518
essv258 CNV CNV 17122850
nsv833704 CNV Gain 17160897
dgv1055e1 CNV Complex 17122850
dgv3569n71 CNV Loss 21882294
dgv3574n71 CNV Loss 21882294
dgv3575n71 CNV Loss 21882294
nsv910392 CNV Gain 21882294
dgv3577n71 CNV Loss 21882294
nsv910401 CNV Loss 21882294
nsv470102 CNV Loss 18288195
dgv3578n71 CNV Loss 21882294
nsv910404 CNV Loss 21882294
dgv3579n71 CNV Loss 21882294
nsv910409 CNV Loss 21882294
nsv910411 CNV Loss 21882294
nsv828362 CNV Loss 20364138
nsv910412 CNV Loss 21882294
nsv910413 CNV Gain 21882294
dgv3580n71 CNV Loss 21882294
nsv470103 CNV Gain 18288195

Variation tolerance for HMHA1 Gene

Residual Variation Intolerance Score: 6.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.60; 82.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HMHA1 Gene

Human Gene Mutation Database (HGMD)
HMHA1

Disorders for HMHA1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HMHA1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HMHA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HMHA1

Genetic Association Database (GAD)
HMHA1
Human Genome Epidemiology (HuGE) Navigator
HMHA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMHA1
genes like me logo Genes that share disorders with HMHA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HMHA1 Gene

Publications for HMHA1 Gene

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4 67
  2. Genomic identification of the minor histocompatibility antigen HA-1 locus by allele-specific PCR. (PMID: 9820596) Wilke M. … Goulmy E. (Tissue Antigens 1998) 2 3 23
  3. Secondary anchor polymorphism in the HA-1 minor histocompatibility antigen critically affects MHC stability and TCR recognition. (PMID: 19234124) Nicholls S. … Willcox B.E. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  4. Role of minor histocompatibility antigens in renal transplantation. (PMID: 18093280) Heinold A. … Tran T.H. (Am. J. Transplant. 2008) 3 23
  5. Aberrant expression of BCL2A1-restricted minor histocompatibility antigens in melanoma cells: application for allogeneic transplantation. (PMID: 18414982) Torikai H. … Takahashi T. (Int. J. Hematol. 2008) 3 23

Products for HMHA1 Gene

Sources for HMHA1 Gene

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