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

HMHB1 Gene

protein-coding   GIFtS: 37
GCID: GC05P143172

Histocompatibility (Minor) HB-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) HB-11 2
HLA-HB12 5
HB-12
Minor Histocompatibility Antigen HB-12
Minor Histocompatibility Protein HB-12

External Ids:    HGNC: 296771   Entrez Gene: 578242   Ensembl: ENSG000001584977   OMIM: 6099615   UniProtKB: O979803   

Export aliases for HMHB1 gene to outside databases

Previous GC identifer: GC05P138338


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

Entrez Gene summary for HMHB1 Gene:
This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of
cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen
(HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute
lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates
at a non-AUG (CUG) codon. (provided by RefSeq, Jul 2008)

GeneCards Summary for HMHB1 Gene: 
HMHB1 (histocompatibility (minor) HB-1) is a protein-coding gene. Diseases associated with HMHB1 include acute lymphoblastic leukemia, and lymphoblastic leukemia.

UniProtKB/Swiss-Prot: HMHB1_HUMAN, O97980
Function: Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility 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
histocomplatibility antigen in HLA-matched sibling marrow transplants. HB-1 is presented on the cell surface by
MHC class I HLA-B44. This complex specifically elicits donor-cytotoxic T lymphocyte (CTL) reactivity in B-cell
acute lymphoblastic leukemia (B-ALL) after treatment by HLA-identical allogenic bone marrow transplantation
(BMT). It induces cell recognition and lysis by CTL. However, HB-1 restricted expression in B-ALL cells and not
in normal tissues may allow a specific CTL reactivity against B-ALL without the risk of evoking graft-versus-host
disease




(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_000005.9  NC_018916.2  NT_029289.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMHB1 gene promoter:
         STAT1   HOXA3   STAT4   STAT1beta   RelA   NF-kappaB   STAT1alpha   STAT2   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMHB1 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMHB1


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

Entrez Gene cytogenetic band: 5q31.3   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q32

HMHB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMHB1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P143172:  view genomic region     (about GC identifiers)

Start:
143,191,726 bp from pter      End:
143,200,284 bp from pter
Size:
8,559 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: HMHB1_HUMAN, O97980 (See protein sequence)
Recommended Name: Minor histocompatibility protein HB-1  
Size: 41 amino acids; 4965 Da
Subunit: HB-1 forms a complex with MHC class I HLA-B44
Caution: This sequence containing mHag HB-1 may not represent the full-length protein (PubMed:15102363), because
functional domains are absent in this short gene product
Caution: PubMed:9892612 postulated that the initiator methionine is coded by a non-canonical CTG leucine codon
Secondary accessions: Q9MY25

Explore the universe of human proteins at neXtProt for HMHB1: NX_O97980

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O97980

  • HMHB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_067005.1  
    ENSEMBL proteins: 
     ENSP00000289448  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: O97980


    (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: HMHB1_HUMAN, O97980
    Function: Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility 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
    histocomplatibility antigen in HLA-matched sibling marrow transplants. HB-1 is presented on the cell surface by
    MHC class I HLA-B44. This complex specifically elicits donor-cytotoxic T lymphocyte (CTL) reactivity in B-cell
    acute lymphoblastic leukemia (B-ALL) after treatment by HLA-identical allogenic bone marrow transplantation
    (BMT). It induces cell recognition and lysis by CTL. However, HB-1 restricted expression in B-ALL cells and not
    in normal tissues may allow a specific CTL reactivity against B-ALL without the risk of evoking graft-versus-host
    disease

    Animal Models:

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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMHB1

    (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 HMHB1

    Search CenterWatch for drugs/clinical trials and news about HMHB1

    (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,
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    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 HMHB1 gene: 
    NM_021182.1  

    Unigene Cluster for HMHB1:

    Histocompatibility (minor) HB-1
    Hs.158320
    Unigene Representative Sequence: AF103884
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000289448(uc003lnj.3)
    miRNA
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    Additional mRNA sequence: 

    AF103884.1 BC096711.1 BC098145.1 BC098244.1 BC104412.1 BC104413.1 BC113894.1 BC113971.1 

    1 DOTS entry:

    DT.92011863 

    3 AceView cDNA sequences:

    AF103884 NM_021182 BG221245 

    GeneLoc Exon Structure


    (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

    HMHB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAAGAGTA
    HMHB1 Expression
    About this image


    Genevestigator expression for HMHB1

    SOURCE GeneReport for Unigene cluster: Hs.158320

    UniProtKB/Swiss-Prot: HMHB1_HUMAN, O97980
    Tissue specificity: Expressed in acute lymphoblastic leukemia B-cells and Epstein-Barr virus-transformed B-cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMHB1

    (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 human and chimp.

    Orthologs for HMHB1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia LOC7399666
    PREDICTED: Pan troglodytes hypothetical LOC739966 ...
    100(a)
    1 ↔ 1
    5(144575552-144583931)


    ENSEMBL Gene Tree for HMHB1 (if available)
    TreeFam Gene Tree for HMHB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/252 SNPs in HMHB1 are shown (see all 252)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1615691,2
    C,F,H--143189770(+) cacagA/Gaagtt 1 -- us2k15Minor allele frequency- G:0.02NS EA WA 498
    rs1440387801,2
    C--143189806(+) TCTAAC/TTTCAG 1 -- us2k10--------
    rs1820719851,2
    C--143189956(+) GAAAAA/TTCCAT 1 -- us2k10--------
    rs774528801,2
    F--143189974(+) GAAGAT/GGGTTT 1 -- us2k11Minor allele frequency- G:0.06WA 118
    rs1870575431,2
    --143190025(+) GGGGTA/GCATTA 1 -- us2k10--------
    rs106441001,2
    C--143190140(+) ggctaATTT    
       TTT
    /-
    atttt
    1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs353860441,2
    C--143190141(+) GCTAA-/AT    
       TTTTT
    TTTTT
    1 -- us2k10--------
    rs607980681,2
    C--143190144(+) TATTTTTTA    
       TTT
    /-
    ATTAT
    1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs68796821,2
    C,F--143190159(+) tatttT/Attatt 1 -- us2k1 tfbs32Minor allele frequency- A:0.50WA NA 4
    rs131683191,2
    C--143190170(+) tttttT/Gtgtgt 1 -- us2k13Minor allele frequency- G:0.08NA EA 242

    HapMap Linkage Disequilibrium report for HMHB1 (143191726 - 143200284 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HMHB1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HMHB1
    DNA2.0 Custom Variant and Variant Library Synthesis for HMHB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609961    OMIM disorders: --

    6 diseases for HMHB1:    About MalaCards
    acute lymphoblastic leukemia    lymphoblastic leukemia    hematopoietic stem cell transplantation    leukemia
    graft versus host disease    t-cell leukemia


    HMHB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HMHB1
    Human Genome Epidemiology (HuGE) Navigator: HMHB1 (3 documents)

    Export disorders for HMHB1 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 HMHB1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with HMHB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human minor histocompatibility antigen specific for B cell acute lymphoblastic leukemia. (PubMed id 9892612)1, 2, 3, 9 Dolstra H.... van de Wiel-van Kemenade E. (1999)
    2. Role of minor histocompatibility antigens in renal transplantation. (PubMed id 18093280)1, 4, 9 Heinold A....Tran T.H. (2008)
    3. Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogenei c hematopoietic cell transplantation. (PubMed id 20353833)1, 4 Larsen M.E....Vindelov L. (2010)
    4. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    5. Improved genotyping of the human minor histocompatibi lity antigen HB-1 by polymerase chain reaction with sequence-specific primers u sing a complementary oligonucleotide. (PubMed id 20718936)1 Park M.J....Kim T.G. (2010)
    6. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    7. Minor histocompatibility antigens -- big in tumour therapy. (PubMed id 15102363)2 Spierings E.... Goulmy E. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Bi-directional allelic recognition of the human minor histocompatibility antigen HB-1 by cytotoxic T lymphocytes. (PubMed id 12355426)2 Dolstra H....van de Wiel-van Kemenade E. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 57824 HGNC: 29677 AceView: HB-1 Ensembl:ENSG00000158497 euGenes: HUgn57824
    ECgene: HMHB1 H-InvDB: HMHB1

    (According to HUGE)
    About This Section
      --

    (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 HMHB1 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 HMHB1 gene:
    Search GeneIP for patents involving HMHB1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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