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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HMHA1 Gene

protein-coding   GIFtS: 58
GCID: GC19P001066

Histocompatibility (Minor) HA-1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Histocompatibility (Minor) HA-11 2     HA-12
HLA-HA12 5     Minor Histocompatibility Antigen HA-12
KIAA02233 5     Minor Histocompatibility Protein HA-12
ARHGAP452     

External Ids:    HGNC: 171021   Entrez Gene: 235262   Ensembl: ENSG000001804487   OMIM: 6011555   UniProtKB: Q926193   

Export aliases for HMHA1 gene to outside databases

Previous GC identifers: GC19P001019 GC19P000841


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HMHA1 Gene: 
HMHA1 (histocompatibility (minor) HA-1) is a protein-coding gene. Diseases associated with HMHA1 include acute graft versus host disease, and hematopoietic stem cell transplantation, and among its related super-pathways are Signaling by Rho GTPases and Signaling by GPCR. GO annotations related to this gene include GTPase activator activity and metal ion binding. An important paralog of this gene is ARHGAP29.

UniProtKB/Swiss-Prot: HMHA1_HUMAN, Q92619
Function: GTPase activator for the Rho-type GTPases (Potential)
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 Wiki entry for HMHA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMHA1 gene promoter:
         Sox5   Tal-1   SREBP-1c   MIF-1   Tal-1beta   E47   SREBP-1b   AREB6   SREBP-1a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMHA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HMHA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMHA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

HMHA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMHA1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P001066:  view genomic region     (about GC identifiers)

Start:
1,065,922 bp from pter      End:
1,086,627 bp from pter
Size:
20,706 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HMHA1_HUMAN, Q92619 (See protein sequence)
Recommended Name: Minor histocompatibility protein HA-1  
Size: 1136 amino acids; 124614 Da
Subunit: 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
Sequence caution: Sequence=BAA13212.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for HMHA1:
3D25 (3D)    
Secondary accessions: B4DTS4 F6QP70 Q6P189 Q7LE26 Q86WS1 Q8HX84 Q9GJN9 Q9GJP0 Q9GJP1 Q9MY24
Alternative splicing: 2 isoforms:  Q92619-1   Q92619-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HMHA1: NX_Q92619

Explore proteomics data for HMHA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92619

  • HMHA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HMHA1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001245257.1  NP_001269263.1  NP_001269264.1  NP_036424.2  

    ENSEMBL proteins: 
     ENSP00000439601   ENSP00000467741   ENSP00000316772   ENSP00000466365   ENSP00000466401  
     ENSP00000468615   ENSP00000438979   ENSP00000467525   ENSP00000468607   ENSP00000445109  
    Reactome Protein details: Q92619
    Human Recombinant Protein Products for HMHA1: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    GenScript Custom Purified and Recombinant Proteins Services for HMHA1
    Novus Biologicals HMHA1 Protein
    Novus Biologicals HMHA1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HMHA1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--

    HMHA1 for ontologies           About GeneDecksing



    HMHA1 Antibody Products: 
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    Novus Biologicals HMHA1 Antibodies
    Abcam antibodies for HMHA1
    Cloud-Clone Corp. Antibodies for HMHA1 
    Search ThermoFisher Antibodies for HMHA1
    LSBio Antibodies in human, mouse, rat for HMHA1 

    Assay Products for HMHA1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HMHA1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HMHA1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HMHA1 
    Cloud-Clone Corp. CLIAs for HMHA1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARHGAP: Rho GTPase activating proteins

    4 InterPro protein domains:
     IPR001060 FCH_dom
     IPR008936 Rho_GTPase_activation_prot
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry Q92619

    ProtoNet protein and cluster: Q92619

    1 Blocks protein domain: IPB000198 RhoGAP domain

    UniProtKB/Swiss-Prot: HMHA1_HUMAN, Q92619
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 Rho-GAP domain


    HMHA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HMHA1_HUMAN, Q92619
    Function: GTPase activator for the Rho-type GTPases (Potential)
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
    GO:0046872metal ion binding IEA--
         
    HMHA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HMHA1:
     Increased G2M DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HMHA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HMHA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HMHA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HMHA1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMHA1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HMHA1
    SwitchGear 3'UTR luciferase reporter plasmidHMHA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HMHA1

    Clone
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    OriGene ORF clones in mouse, rat for HMHA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HMHA1 (NM_012292)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMHA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMHA1
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                         Customized lentivirus expression plasmids for stable overexpression of HMHA1 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMHA1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HMHA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    2Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for HMHA1
        Signaling by Rho GTPases
    Signal Transduction
    Rho GTPase cycle



    HMHA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMHA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/34 Interacting proteins for HMHA1 (ENSP000003167724) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGAP4ENSP000002037864STRING: ENSP00000203786
    ARHGDIBENSP000002289454STRING: ENSP00000228945
    ARHGEF18ENSP000003529954STRING: ENSP00000352995
    RAC2ENSP000002490714STRING: ENSP00000249071
    VAV1ENSP000003022694STRING: ENSP00000302269
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0035556intracellular signal transduction ----
    GO:0051056regulation of small GTPase mediated signal transduction TAS--

    HMHA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMHA1

    10/843 HMDB Compounds for HMHA1 (see all 843)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----
    DG(14:0/18:3(6Z,9Z,12Z)/0:0)Diacylglycerol(14:0/18:3n6) (see all 16)----

    Search CenterWatch for drugs/clinical trials and news about HMHA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HMHA1 gene (4 alternative transcripts): 
    NM_001258328.2  NM_001282334.1  NM_001282335.1  NM_012292.4  

    Unigene Cluster for HMHA1:

    Histocompatibility (minor) HA-1
    Hs.465521  [show with all ESTs]
    Unigene Representative Sequence: BC065223
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539243 ENST00000587186 ENST00000313093(uc010xgd.1 uc002lqz.1 uc010xge.1 uc002lra.1)
    ENST00000587602 ENST00000591293 ENST00000590214 ENST00000586866 ENST00000543365(uc002lrb.1 uc002lrc.1)
    ENST00000592335 ENST00000586033 ENST00000590577 ENST00000586937 ENST00000590512
    ENST00000586378 ENST00000592297 ENST00000591169 ENST00000536472
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidHMHA1 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HMHA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMHA1
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    OriGene ORF clones in mouse, rat for HMHA1
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    GenScript: all cDNA clones in your preferred vector: HMHA1 (NM_012292)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMHA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMHA1
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                         Customized lentivirus expression plasmids for stable overexpression of HMHA1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMHA1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMHA1

    Additional mRNA sequence: 

    AK122776.1 AK128097.1 AK300341.1 AK304271.1 BC035564.1 BC048129.1 BC065223.1 D86976.1 
    NR_047652.1 

    19 DOTS entries:

    DT.101983553  DT.95136574  DT.97772339  DT.442145  DT.101983552  DT.99991844  DT.100741848  DT.100817986 
    DT.121441251  DT.95136591  DT.92430507  DT.100817992  DT.121441246  DT.121441517  DT.121441524  DT.121441602 
    DT.95136573  DT.95298816  DT.40221910 

    24/193 AceView cDNA sequences (see all 193):

    BQ030276 BC048129 AI674929 AI457902 BM922661 NM_012292 BG388120 BQ878430 
    BM807016 BQ689919 BQ229701 BQ682808 BM714648 BQ705987 AI270222 BX337482 
    BE208751 BM563604 BU838153 CR608309 AW793644 AL560092 BQ049726 CR603358 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HMHA1 (see all 11)    About this scheme

    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:                                                                                                                                            -               

    ExUns: 23 ^ 24a · 24b · 24c · 24d ^ 25a · 25b · 25c ^ 26 ^ 27a · 27b · 27c
    SP1:  -     -                                                               
    SP2:  -     -                                                               
    SP3:  -     -                                                               
    SP4:  -     -                                                               
    SP5:                                                                        


    ECgene alternative splicing isoforms for HMHA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HMHA1 expression in normal human tissues (normalized intensities)      HMHA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCTCCGTG
    HMHA1 Expression
    About this image


    HMHA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Lymph (Hematopoietic System)    fully expand to see all 4 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             spleen ; cells in white pulp   
     
     Thymus (Hematopoietic System)
             Thymus   

    See HMHA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMHA1

    SOURCE GeneReport for Unigene cluster: Hs.465521

    UniProtKB/Swiss-Prot: HMHA1_HUMAN, Q92619
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for HMHA1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmha11 , 5 histocompatibility (minor) HA-11, 5 80.17(n)1
    83.56(a)1
      10 (39.72 cM)5
    707191  NM_001142701.11  NP_001136173.11 
     800166535 
    chicken
    (Gallus gallus)
    Aves HMHA11 histocompatibility (minor) HA-1 73.94(n)
    71.53(a)
      420102  NM_001030937.1  NP_001026108.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMHA16
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL344210.1(29132-62567)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.113972 Transcribed sequence with weak similarity to protein more 74.11(n)    BX739199.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmha11 histocompatibility (minor) HA-1 61.88(n)
    58.68(a)
      555849  XM_678493.4  XP_683585.4 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-3416
    Protein TAG-341, isoform a
    20(a)
    1 → many
    II(7912766-7928655)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BEM26
    Rho GTPase activating protein (RhoGAP) involved in...
    7(a)
    1 → many
    V(476345-482848)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMHA1 gene
    ARHGAP292  SYDE22  RACGAP12  ABR2  SYDE12  GMIP2  BCR2  
    11 SIMAP similar genes for HMHA1 using alignment to 10 protein entries:     HMHA1_HUMAN (see all proteins):
    ARHGAP24    OPHN1    ARHGAP21    ARHGAP31    ARHGAP29    ARHGAP12
    CHN2    ARHGAP23    CHN1    GMIP    ABR

    HMHA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: HMHA1_HUMAN, Q92619
    Polymorphism: 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


    10/645 SNPs in HMHA1 are shown (see all 645)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1997454121,2
    C--1004913(+) AGTGAC/GCCGGT 1 -- us2k10--------
    rs1118311771,2
    C--1004916(+) GAGCCG/AGTGCC 1 -- us2k12Minor allele frequency- A:0.10CSA WA 120
    rs41479381,2
    C,F--1066256(+) GGGAGA/GGGGGA 2 -- us2k1 int18Minor allele frequency- G:0.39NA WA CSA EA 368
    rs41479391,2
    C,F,H--1066257(+) GGAGGG/AGGGAG 2 -- us2k1 int1 tfbs3 trp34Minor allele frequency- A:0.05NA CSA EA 243
    rs1476809031,2
    --1066328(+) CAGATA/GCCCCA 2 -- us2k1 int10--------
    rs1422160671,2
    --1066442(+) GCGGGA/GCTGGG 2 -- us2k1 int10--------
    rs1459338991,2
    --1066456(+) CTTAGC/TTAAGG 2 -- us2k1 int10--------
    rs1923137071,2
    --1066488(+) ATGGCC/TCACAG 2 -- us2k1 int10--------
    rs1121310721,2
    C--1066626(+) ACCCAGACGGACA
    GGGCCC
    /-
    GGTAA
    2 -- us2k1 int11Minor allele frequency- -:0.50CSA 2
    rs41479401,2
    C,F,H--1066738(+) CTTCAC/TGGGGC 2 -- us2k1 int116Minor allele frequency- T:0.28NS EA NA WA 2048

    HapMap Linkage Disequilibrium report for HMHA1 (1065922 - 1086627 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 variations for HMHA1 (see all 28):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv470102CNV Loss18288195
    dgv3579n71CNV Loss21882294
    nsv910292CNV Loss21882294
    nsv910411CNV Loss21882294
    dgv3555n71CNV Loss21882294
    dgv3574n71CNV Loss21882294
    dgv3552n71CNV Loss21882294
    dgv3575n71CNV Loss21882294
    nsv910401CNV Loss21882294
    nsv910310CNV Loss21882294


    Human Gene Mutation Database (HGMD): HMHA1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601155    OMIM disorders: --

    10 diseases for HMHA1:    About MalaCards
    acute graft versus host disease    hematopoietic stem cell transplantation    graft versus host disease    chronic myeloid leukemia
    sjogren's syndrome    multiple myeloma    myeloma    myeloid leukemia
    leukemia    melanoma


    HMHA1 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for HMHA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    graft-versus-host disease 81.5 5 11144294 (1), 16707472 (1), 10703604 (1), 15350465 (1) (see all 5)
    graft-versus-tumor 71.2 1 16399573 (1)
    acute graft-versus-host disease 70.7 5 10515896 (2), 11564088 (2), 9820595 (1)
    hematologic malignancies 47.3 3 16399573 (2), 12601144 (1)
    solid tumor 41.7 9 19096014 (3), 11965046 (3), 12804533 (1), 16399573 (1)
    leukemia 40.6 8 11965046 (3), 17641837 (1), 12601144 (1), 14502255 (1) (see all 5)
    necrosis 0 1 12438965 (1)
    tumors 0 4 19096014 (2), 12438965 (1), 11965046 (1)
    cancer 0 5 19096014 (2), 12163564 (1), 11965046 (1), 16399573 (1)

    Genetic Association Database (GAD): HMHA1
    Human Genome Epidemiology (HuGE) Navigator: HMHA1 (7 documents)

    Export disorders for HMHA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HMHA1 gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with HMHA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 9039502)1, 2, 3 Nagase T....Nomura N. (1996)
    2. Expression of minor histocompatibility antigen, HA-1, in solid tumor cells. (PubMed id 11965046)1, 2, 9 Fujii N....Harada M. (2002)
    3. Genomic typing of minor histocompatibility antigen HA-1 by reference strand mediated conformation analysis (RSCA). (PubMed id 10958358)1, 2, 9 Arostegui J.I.... Granena A. (2000)
    4. The minor histocompatibility antigen HA-1: a diallelic gene with a single amino acid polymorphism. (PubMed id 9461441)1, 2, 9 den Haan J.M.... Goulmy E. (1998)
    5. Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome. (PubMed id 15593299)1, 4, 9 Harangi M....Schmitz G. (2005)
    6. Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene. (PubMed id 11095984)1, 2, 9 Kaminski W.E.... Schmitz G. (2000)
    7. Genomic identification of the minor histocompatibility antigen HA-1 locus by allele-specific PCR. (PubMed id 9820596)1, 3, 9 Wilke M....Goulmy E. (1998)
    8. Role of minor histocompatibility antigens in renal transplantation. (PubMed id 18093280)1, 4, 9 Heinold A....Tran T.H. (2008)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation. (PubMed id 16984283)1, 4 Bertinetto F.E....Amoroso A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23526 HGNC: 17102 AceView: HA-1 Ensembl:ENSG00000180448 euGenes: HUgn23526
    ECgene: HMHA1 H-InvDB: HMHA1

    (According to HUGE)
    About This Section
    HUGE: KIAA0223

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HMHA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HMHA1 gene:
    Search GeneIP for patents involving HMHA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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