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

Gene ID: 3047, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:4831
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]
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Genomic context

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See HBG1 in Genome Data Viewer
Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5248269..5249857, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5307634..5309208, complement)
105.20220307 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 A-gamma-globin 3' regulatory region Neighboring gene hemoglobin subunit beta pseudogene 1 Neighboring gene HBG1 recombination region Neighboring gene beta globin locus transcript 3 Neighboring gene HBG2 recombination region Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:5278491-5279106 Neighboring gene hemoglobin subunit gamma 2 Neighboring gene beta-globin hypersensitive site-embryonic 1 Neighboring gene beta-globin locus control region Neighboring gene hemoglobin subunit epsilon 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism. Ghosh D, et al. Genet Test Mol Biomarkers, 2021 Aug. PMID 34406845
  2. New Deletion at Promoter of HBG1 Gene in Sickle Cell Disease Patients With High HbF Level. Chaouch L, et al. J Pediatr Hematol Oncol, 2020 Jan. PMID 31688634
  3. Fetal γ-globin genes are regulated by the BGLT3 long noncoding RNA locus. Ivaldi MS, et al. Blood, 2018 Nov 1. PMID 30150205, Free PMC Article
  4. An Aγ-globin G->A gene polymorphism associated with β(0)39 thalassemia globin gene and high fetal hemoglobin production. Breveglieri G, et al. BMC Med Genet, 2017 Aug 29. PMID 28851297, Free PMC Article
  5. A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression. Chen D, et al. Am J Hum Genet, 2017 Jul 6. PMID 28669403, Free PMC Article

See all (201) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activation of gamma-globin expression by LncRNA-mediated ERF promoter hypermethylation in beta-thalassemia.
    Title: Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.
  2. Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.
    Title: Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.
  3. Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
    Title: Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
  4. TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the gamma-globin gene promoters.
    Title: TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the γ-globin gene promoters.
  5. Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
    Title: Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
  6. Activation of gamma-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.
    Title: Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.
  7. A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the gamma-globin gene in beta-thalassemia.
    Title: A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in β-thalassemia.
  8. Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.
    Title: Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.
  9. Long noncoding RNA HBBP1 enhances gamma-globin expression through the ETS transcription factor ELK1.
    Title: Long noncoding RNA HBBP1 enhances γ-globin expression through the ETS transcription factor ELK1.
  10. ATF4 Regulates MYB to Increase gamma-Globin in Response to Loss of beta-Globin.
    Title: ATF4 Regulates MYB to Increase γ-Globin in Response to Loss of β-Globin.
Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary persistence of fetal hemoglobin
MedGen: C0019025 OMIM: 141749 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
EBI GWAS Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to haptoglobin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables heme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hemoglobin alpha binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables organic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxygen carrier activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in carbon dioxide transport NAS
Non-traceable Author Statement
more info
 PubMed 
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
  
involved_in oxygen transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in oxygen transport NAS
Non-traceable Author Statement
more info
 PubMed 
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
  
part_of hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of hemoglobin complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
hemoglobin subunit gamma-1
Names
A-gamma globin
fetal hemoglobin F subunit gamma 1
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)

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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_000559.3 → NP_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, Q549G1, Q8TDA1
    UniProtKB/TrEMBL
    D3GKD8, D9YZU8
    Related
    ENSP00000327431.4, ENST00000330597.5
    Conserved Domains (1) summary
    cd08925
    Location:7 → 146
    Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5307634..5309208 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P69891.3 GenPept UniProtKB/Swiss-Prot:P69891

Gene LinkOut

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