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    HBB hemoglobin subunit beta [ Homo sapiens (human) ]

    Gene ID: 3043, updated on 1-Jun-2020

    Summary

    Official Symbol
    HBBprovided by HGNC
    Official Full Name
    hemoglobin subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:4827
    See related
    Ensembl:ENSG00000244734 MIM:141900
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECYT6; CD113t-C; beta-globin
    Summary
    The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
    Orthologs

    Genomic context

    See HBB in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (5225464..5227071, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5246696..5248301, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 51 subfamily V member 1 Neighboring gene beta-globin 3' hypersensitive site 1 Neighboring gene origin of replication at HBB Neighboring gene beta-globin gene 3' regulatory region Neighboring gene HBB recombination region Neighboring gene HBD recombination region Neighboring gene delta-globin 5' regulatory region Neighboring gene hemoglobin subunit delta

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    alpha Thalassemia
    MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
    Compare labs
    beta Thalassemia
    MedGen: C0005283 OMIM: 613985 GeneReviews: Beta-Thalassemia
    Compare labs
    Beta-thalassemia, dominant inclusion body type
    MedGen: C1858990 OMIM: 603902 GeneReviews: Not available
    Compare labs
    Erythrocytosis 6, familial
    MedGen: C4693822 OMIM: 617980 GeneReviews: Not available
    Compare labs
    Fetal hemoglobin quantitative trait locus 1
    MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
    Compare labs
    Hb SS disease
    MedGen: C0002895 OMIM: 603903 GeneReviews: Sickle Cell Disease
    Compare labs
    Heinz body anemia
    MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
    Compare labs
    Hemoglobin M disease
    MedGen: C4693797 OMIM: 617971 GeneReviews: Not available
    not available
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
    NHGRI GWA Catalog
    Genome-wide and fine-resolution association analysis of malaria in West Africa.
    NHGRI GWA Catalog
    Genome-wide association study indicates two novel resistance loci for severe malaria.
    NHGRI GWA Catalog
    Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
    NHGRI GWA Catalog
    HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
    NHGRI GWA Catalog
    Imputation-based meta-analysis of severe malaria in three African populations.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of HBB PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to haptoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemoglobin alpha binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    organic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxygen carrier activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen carrier activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    contributes_to peroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to peroxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    hydrogen peroxide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hydrogen peroxide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    nitric oxide transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxygen transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxygen transport TAS
    Traceable Author Statement
    more info
    PubMed 
    platelet aggregation HMP PubMed 
    positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    renal absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    blood microparticle HDA PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    haptoglobin-hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    haptoglobin-hemoglobin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemoglobin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemoglobin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    hemoglobin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    hemoglobin subunit beta
    Names
    beta globin chain
    hemoglobin beta subunit
    hemoglobin, beta

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_059281.1 RefSeqGene

      Range
      5001..6608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000518.5NP_000509.1  hemoglobin subunit beta

      See identical proteins and their annotated locations for NP_000509.1

      Status: REVIEWED

      Source sequence(s)
      AK311825, BU661647
      Consensus CDS
      CCDS7753.1
      UniProtKB/Swiss-Prot
      P68871
      UniProtKB/TrEMBL
      D9YZU5
      Related
      ENSP00000333994.3, ENST00000335295.4
      Conserved Domains (1) summary
      cd08925
      Location:7146
      Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      5225464..5227071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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