Format

Send to:

Choose Destination
    • Showing Current items.

    HBG1 hemoglobin subunit gamma 1 [ Homo sapiens (human) ]

    Gene ID: 3047, updated on 8-Jul-2021

    Summary

    Official Symbol
    HBG1provided by HGNC
    Official Full Name
    hemoglobin subunit gamma 1provided by HGNC
    Primary source
    HGNC:HGNC:4831
    See related
    Ensembl:ENSG00000213934 MIM:142200
    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
    HBGA; HBGR; HBG-T2; HSGGL1; PRO2979
    Summary
    The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. 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]
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HBG1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (5248269..5249857, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5269499..5271087, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene hemoglobin subunit beta pseudogene 1 Neighboring gene A-gamma-globin 3' regulatory region Neighboring gene beta globin locus transcript 3 Neighboring gene HBG1 recombination region Neighboring gene HBG2 recombination region Neighboring gene hemoglobin subunit gamma 2 Neighboring gene beta-globin hypersensitive site-embryonic 1

    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
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    GeneReviews: Not available
    Fetal hemoglobin quantitative trait locus 1
    MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
    Compare labs
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat inhibits the butyric acid-induced gamma-globin gene expression in human hematopoietic progenitor K562 cells 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hemoglobin alpha binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables organic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables oxygen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables oxygen carrier activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to peroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in oxygen transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of haptoglobin-hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    hemoglobin subunit gamma-1
    Names
    A-gamma globin
    gamma A hemoglobin
    gamma globin
    gamma-1-globin
    hb F Agamma
    hemoglobin gamma-1 chain
    hemoglobin gamma-a chain
    hemoglobin, gamma A
    hemoglobin, gamma, regulator of

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000007.3 RefSeqGene

      Range
      47759..49344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000559.3NP_000550.2  hemoglobin subunit gamma-1

      See identical proteins and their annotated locations for NP_000550.2

      Status: REVIEWED

      Source sequence(s)
      AC104389
      Consensus CDS
      CCDS7754.1
      UniProtKB/Swiss-Prot
      P69891
      UniProtKB/TrEMBL
      D9YZU8
      Related
      ENSP00000327431.4, ENST00000330597.5
      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 109.20210514

    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
      5248269..5249857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center