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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.

Additional gene information for HMHB1 Gene

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
GH05H143757 0.7 ENCODE 11 -53.7 -53734 2 ZBED1 CEBPB JUNB DPF2 BATF BCL11A EED IKZF1 ETV6 RUNX3 HMHB1 GC05M143659
GH05H143836 0.5 ENCODE 11.3 +25.4 25412 1 POLR2A FOXP2 REST HMHB1 NR3C1 PIR62690 GC05P144011 GC05P144012 GC05P144013
GH05H143806 0.8 FANTOM5 3.4 -5.4 -5406 0 MAZ ZBED1 NR2F1 ELF1 EBF1 RELA EED IKZF1 ZNF143 ATF7 NR3C1 HMHB1 GC05M143659
GH05H143712 0.2 ENCODE 10.8 -98.9 -98906 1 HMHB1 MIR5197 LOC100420513
GH05H143812 0.7 Ensembl 0.7 +0.2 240 0 HDGF ZNF687 TBL1XR1 MAX POLR2A EED IKZF1 TARDBP NBN MLLT1 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 From GWAS Catalog for HMHB1 Gene

Gene Ontology (GO) - Molecular Function for HMHB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with HMHB1: view

Phenotypes for HMHB1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HMHB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for HMHB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with HMHB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) 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 --
GO:0010468 regulation of gene expression IDA 8992968
GO:0042268 regulation of cytolysis IMP 9892612
GO:0071356 cellular response to tumor necrosis factor IDA 8992968
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HMHB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 34
  • 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
  • leukemia, lymphoid
- 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 (The Journal of experimental medicine 1999) 2 3 4 22 60
  2. Role of minor histocompatibility antigens in renal transplantation. (PMID: 18093280) Heinold A … Tran TH (American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2008) 3 22 45 60
  3. Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogeneic hematopoietic cell transplantation. (PMID: 20353833) Larsen ME … Vindelov L (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2010) 3 45 60
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  5. Recognition of a B cell leukemia-associated minor histocompatibility antigen by CTL. (PMID: 8992968) Dolstra H … van de Wiel-van Kemenade E (Journal of immunology (Baltimore, Md. : 1950) 1997) 3 4 60

Products for HMHB1 Gene

Sources for HMHB1 Gene

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