Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HMHB1 Gene

Aliases for HMHB1 Gene

  • Histocompatibility Minor HB-1 2 3 5
  • Minor Histocompatibility Antigen HB-1 3
  • Minor Histocompatibility Protein HB-1 3
  • HLA-HB1 3
  • HB-1Y 3
  • HB-1 3

External Ids for HMHB1 Gene

Previous GeneCards Identifiers for HMHB1 Gene

  • GC05P143172
  • GC05P138338

Summaries for HMHB1 Gene

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 Lymphoblastic Leukemia.

UniProtKB/Swiss-Prot for HMHB1 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMHB1 Gene

Genomics for HMHB1 Gene

Regulatory Elements for HMHB1 Gene

Enhancers for HMHB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G143836 0.8 ENCODE 11.3 +25.4 25412 1.7 CTCF SOX13 PKNOX1 FOXA2 CEBPG ZIC2 ZBTB40 RAD21 RARA EED HMHB1 NR3C1 GC05P144013 PIR62690 GC05P144012 GC05P144011
GH05G143757 0.8 ENCODE 11 -53.7 -53734 2.8 PKNOX1 TBL1XR1 JUN FOSL1 EED NR2F6 RELB ETV6 IKZF2 CREM HMHB1 GC05M143659
GH05G143712 0.6 ENCODE 10.8 -98.9 -98906 1.5 HDGF ZNF366 ZNF512 CEBPB YBX1 CEBPG PRDM1 HMHB1 MIR5197 LOC100420513
GH05G143806 0.8 FANTOM5 3.4 -5.4 -5406 0.2 TBP EBF1 RELA EED RELB IKZF2 CREM MTA2 NR2F1 ZBED1 NR3C1 HMHB1 GC05M143659
GH05G143812 0.8 Ensembl 0.7 +0.2 240 0.8 HDGF HINFP ZNF175 PYGO2 FOSL1 POLR2A EED RELB IKZF2 CREM HMHB1 GC05P144011 GC05P144012 GC05P144013 PIR62690
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HMHB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HMHB1 Gene

Chromosome:
5
Start:
143,812,161 bp from pter
End:
143,820,719 bp from pter
Size:
8,559 bases
Orientation:
Plus strand

Genomic View for HMHB1 Gene

Genes around HMHB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMHB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMHB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMHB1 Gene

Proteins for HMHB1 Gene

  • Protein details for HMHB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O97980-HMHB1_HUMAN
    Recommended name:
    Minor histocompatibility protein HB-1
    Protein Accession:
    O97980
    Secondary Accessions:
    • Q9MY25

    Protein attributes for HMHB1 Gene

    Size:
    41 amino acids
    Molecular mass:
    4965 Da
    Quaternary structure:
    • HB-1 forms a complex with MHC class I HLA-B44.

neXtProt entry for HMHB1 Gene

Post-translational modifications for HMHB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HMHB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HMHB1 Gene

Domains & Families for HMHB1 Gene

Gene Families for HMHB1 Gene

Protein Domains for HMHB1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for HMHB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HMHB1: view

No data available for UniProtKB/Swiss-Prot for HMHB1 Gene

Function for HMHB1 Gene

Molecular function for HMHB1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for HMHB1 Gene

genes like me logo Genes that share phenotypes with HMHB1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HMHB1 Gene

Localization for HMHB1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMHB1 gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HMHB1 Gene

Pathways & Interactions for HMHB1 Gene

SuperPathways for HMHB1 Gene

No Data Available

Interacting Proteins for HMHB1 Gene

Gene Ontology (GO) - Biological Process for HMHB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
genes like me logo Genes that share ontologies with HMHB1: view

No data available for Pathways by source and SIGNOR curated interactions for HMHB1 Gene

Drugs & Compounds for HMHB1 Gene

No Compound Related Data Available

Transcripts for HMHB1 Gene

mRNA/cDNA for HMHB1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HMHB1 Gene

Histocompatibility (minor) HB-1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMHB1 Gene

No ASD Table

Relevant External Links for HMHB1 Gene

GeneLoc Exon Structure for
HMHB1
ECgene alternative splicing isoforms for
HMHB1

Expression for HMHB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HMHB1 Gene

mRNA differential expression in normal tissues according to GTEx for HMHB1 Gene

This gene is overexpressed in Testis (x10.9).

NURSA nuclear receptor signaling pathways regulating expression of HMHB1 Gene:

HMHB1

SOURCE GeneReport for Unigene cluster for HMHB1 Gene:

Hs.158320

mRNA Expression by UniProt/SwissProt for HMHB1 Gene:

O97980-HMHB1_HUMAN
Tissue specificity: Expressed in acute lymphoblastic leukemia B-cells and Epstein-Barr virus-transformed B-cells.
genes like me logo Genes that share expression patterns with HMHB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMHB1 Gene

Orthologs for HMHB1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for HMHB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMHB1 35
  • 100 (a)
OneToOne
Species where no ortholog for HMHB1 was found in the sources mined by GeneCards:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HMHB1 Gene

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

Paralogs for HMHB1 Gene

No data available for Paralogs for HMHB1 Gene

Variants for HMHB1 Gene

Sequence variations from dbSNP and Humsavar for HMHB1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000000116 -- 143,820,965(+) GTGGA(C/G)AGTAA downstream-variant-500B
rs1000074044 -- 143,820,080(+) ATTTT(A/G)TTTCT intron-variant
rs1000292330 -- 143,813,978(+) TATTT(A/G)TGATT intron-variant
rs1000541299 -- 143,820,722(+) GAACA(-/TG)TGTGT downstream-variant-500B
rs1000980595 -- 143,818,982(+) ATCAC(C/T)TGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HMHB1 Gene

Variant ID Type Subtype PubMed ID
esv3566747 CNV deletion 23714750

Variation tolerance for HMHB1 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.23; 70.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HMHB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMHB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMHB1 Gene

Disorders for HMHB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HMHB1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
lymphoblastic leukemia
  • acute lymphocytic leukemia
- elite association - COSMIC cancer census association via MalaCards
Search HMHB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HMHB1

Genetic Association Database (GAD)
HMHB1
Human Genome Epidemiology (HuGE) Navigator
HMHB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMHB1
genes like me logo Genes that share disorders with HMHB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HMHB1 Gene

Publications for HMHB1 Gene

  1. A human minor histocompatibility antigen specific for B cell acute lymphoblastic leukemia. (PMID: 9892612) Dolstra H. … van de Wiel-van Kemenade E. (J. Exp. Med. 1999) 2 3 4 22 64
  2. Role of minor histocompatibility antigens in renal transplantation. (PMID: 18093280) Heinold A. … Tran T.H. (Am. J. Transplant. 2008) 3 22 46 64
  3. Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogeneic hematopoietic cell transplantation. (PMID: 20353833) Larsen M.E. … Vindelov L. (Biol. Blood Marrow Transplant. 2010) 3 46 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. Improved genotyping of the human minor histocompatibility antigen HB-1 by polymerase chain reaction with sequence-specific primers using a complementary oligonucleotide. (PMID: 20718936) Park M.J. … Kim T.G. (Tissue Antigens 2010) 3 64

Products for HMHB1 Gene

Sources for HMHB1 Gene

Content
Loading form....