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Aliases for HBG1 Gene

Aliases for HBG1 Gene

  • Hemoglobin, Gamma A 2 3
  • Hemoglobin Gamma-1 Chain 3 4
  • Hemoglobin Gamma-A Chain 3 4
  • Gamma-1-Globin 3 4
  • Hb F Agamma 3 4
  • Hemoglobin, Gamma, Regulator Of 3
  • Hemoglobin Subunit Gamma-1 3
  • Gamma A Hemoglobin 3
  • A-Gamma Globin 3
  • Gamma Globin 3
  • PRO2979 3
  • HBG-T2 3
  • HSGGL1 3
  • HBGA 3
  • HBGR 3

External Ids for HBG1 Gene

Previous GeneCards Identifiers for HBG1 Gene

  • GC11M006017
  • GC11M005571
  • GC11M005228
  • GC11M005215
  • GC11M005234
  • GC11M005226
  • GC11M005271
  • GC11M004928
  • GC11M005304

Summaries for HBG1 Gene

Entrez Gene Summary for HBG1 Gene

  • 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]

GeneCards Summary for HBG1 Gene

HBG1 (Hemoglobin, Gamma A) is a Protein Coding gene. Diseases associated with HBG1 include fetal hemoglobin quantitative trait locus 1 and hereditary persistence of fetal hemoglobin - sickle cell disease. Among its related pathways are p70S6K Signaling and IL-2 Pathway. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.

UniProtKB/Swiss-Prot for HBG1 Gene

  • Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

Gene Wiki entry for HBG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBG1 Gene

Genomics for HBG1 Gene

Regulatory Elements for HBG1 Gene

Genomic Location for HBG1 Gene

5,248,083 bp from pter
5,249,892 bp from pter
1,810 bases
Minus strand

Genomic View for HBG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HBG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBG1 Gene

Proteins for HBG1 Gene

  • Protein details for HBG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hemoglobin subunit gamma-1
    Protein Accession:
    Secondary Accessions:
    • P02096
    • P62027
    • Q549G1
    • Q8TDA1
    • Q96FH7

    Protein attributes for HBG1 Gene

    147 amino acids
    Molecular mass:
    16140 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F). In the case of deletions affecting one or more of the alpha chains, the excess gamma chains form homotetramers that exhibit neither Bohr effect nor heme-heme cooperativity (hemoglobin Barts).

    Three dimensional structures from OCA and Proteopedia for HBG1 Gene

neXtProt entry for HBG1 Gene

Proteomics data for HBG1 Gene at MOPED

Post-translational modifications for HBG1 Gene

  • Acetylation of Gly-2 converts Hb F to the minor Hb F1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HBG1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HBG1 Gene

Domains for HBG1 Gene

Gene Families for HBG1 Gene

Protein Domains for HBG1 Gene

Suggested Antigen Peptide Sequences for HBG1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the globin family.
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBG1: view

Function for HBG1 Gene

Molecular function for HBG1 Gene

GENATLAS Biochemistry:
globin,gamma A,fetal (A 136)
UniProtKB/Swiss-Prot Function:
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

Gene Ontology (GO) - Molecular Function for HBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter activity IEA --
GO:0005506 iron ion binding IEA --
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with HBG1: view

Phenotypes for HBG1 Gene

MGI mutant phenotypes for HBG1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with HBG1: view

Animal Models for HBG1 Gene

MGI Knock Outs for HBG1:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HBG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for HBG1 Gene

Localization for HBG1 Gene

Subcellular locations from

Jensen Localization Image for HBG1 Gene COMPARTMENTS Subcellular localization image for HBG1 gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for HBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex IEA --
genes like me logo Genes that share ontologies with HBG1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBG1 Gene

Pathways for HBG1 Gene

SuperPathways for HBG1 Gene

Superpath Contained pathways
1 p70S6K Signaling
2 IL-2 Pathway
genes like me logo Genes that share pathways with HBG1: view

Pathways by source for HBG1 Gene

2 Qiagen pathways for HBG1 Gene

Gene Ontology (GO) - Biological Process for HBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation TAS --
GO:0015671 oxygen transport IEA --
genes like me logo Genes that share ontologies with HBG1: view

Drugs for HBG1 Gene

(1) HMDB Compounds for HBG1 Gene

Compound Synonyms Cas Number PubMed IDs
  • (protoporphyrinato)iron

(29) Novoseek inferred chemical compound relationships for HBG1 Gene

Compound -log(P) Hits PubMed IDs
aclacinomycin 79.7 2
butyrate 77.8 23
hydroxyurea 69.2 9
alpha-aminobutyric acid 68.9 2
benzidine 68.7 2
genes like me logo Genes that share compounds with HBG1: view

Transcripts for HBG1 Gene

mRNA/cDNA for HBG1 Gene

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

Unigene Clusters for HBG1 Gene

Hemoglobin, gamma A:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HBG1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HBG1 Gene

No ASD Table

Relevant External Links for HBG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBG1 Gene

mRNA expression in normal human tissues for HBG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBG1 Gene

This gene is overexpressed in Whole Blood (48.9).

Protein differential expression in normal tissues for HBG1 Gene

This gene is overexpressed in Placenta (16.2), Fetal Liver (10.2), Fetal testis (9.5), Fetal gut (9.2), and Fetal heart (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HBG1 Gene

SOURCE GeneReport for Unigene cluster for HBG1 Gene Hs.702189

mRNA Expression by UniProt/SwissProt for HBG1 Gene

Tissue specificity: Red blood cells
genes like me logo Genes that share expressions with HBG1: view

Expression partners for HBG1 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for HBG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Rattus norvegicus)
Mammalia Hbe2 35
  • 78.23 (n)
  • 74.15 (a)
(Mus musculus)
Mammalia Hbb-bh1 16
Hbb-bh1 36
  • 76 (a)
(Bos Taurus)
Mammalia HBE2 36
  • 71 (a)
HBE4 36
  • 74 (a)
(Canis familiaris)
Mammalia -- 36
  • 75 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
(Pan troglodytes)
Mammalia HBG2 36
  • 99 (a)
(Gallus gallus)
Aves HBB 36
  • 70 (a)
HBE 36
  • 66 (a)
HBE1 36
  • 69 (a)
HBG1 36
  • 67 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
(Danio rerio)
Actinopterygii hbaa1 36
  • 41 (a)
hbaa1 36
  • 41 (a)
hbae1 36
  • 38 (a)
hbae1 36
  • 35 (a)
hbae3 36
  • 41 (a)
hbz 36
  • 41 (a)
si:ch211-5k11.2 36
  • 38 (a)
si:ch211-5k11.6 36
  • 41 (a)
Species with no ortholog for HBG1:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for HBG1 Gene

Gene Tree for HBG1 (if available)
Gene Tree for HBG1 (if available)

Paralogs for HBG1 Gene

Paralogs for HBG1 Gene

(13) SIMAP similar genes for HBG1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with HBG1: view

Variants for HBG1 Gene

Sequence variations from dbSNP and Humsavar for HBG1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs916111 -- 5,248,113(-) TTTTG(A/T)TGAGC downstream-variant-500B
rs916112 -- 5,248,048(-) GGTGT(A/T)GGAGA downstream-variant-500B
rs1061234 other, - 5,249,456(-) TGCCA(C/T)AAAGC reference, missense
rs1065686 -- 5,248,354(-) AGCTC(A/C/T)CTGCC utr-variant-3-prime
rs2187608 -- 5,248,701(-) GGTGG(C/G)AAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HBG1 Gene

Variant ID Type Subtype PubMed ID
nsv896929 CNV Loss 21882294
dgv194n67 CNV Gain 20364138
esv5471 CNV Loss 19470904
esv2744059 CNV Deletion 23290073
nsv896930 CNV Gain 21882294
esv2671356 CNV Deletion 23128226
esv2648523 CNV Deletion 19546169

Relevant External Links for HBG1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBG1 Gene

Disorders for HBG1 Gene

(1) OMIM Diseases for HBG1 Gene (142200)

(2) University of Copenhagen DISEASES for HBG1 Gene

(14) Novoseek inferred disease relationships for HBG1 Gene

Disease -log(P) Hits PubMed IDs
erythroleukemia 83.5 7
beta-thalassemia 83.4 21
hemoglobinopathies 82.4 6
sickle cell disease 80 12
thalassemia 73.8 6

Relevant External Links for HBG1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HBG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBG1 Gene

Publications for HBG1 Gene

  1. Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F. (PMID: 19958188) Hamid M. … Karimipoor M. (Hemoglobin 2009) 3 23 48
  2. Erythroid Kruppel-like factor (EKLF) is recruited to the gamma-globin gene promoter as a co-activator and is required for gamma-globin gene induction by short-chain fatty acid derivatives. (PMID: 19220418) Perrine S.P. … Faller D.V. (Eur. J. Haematol. 2009) 3 23
  3. Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia. (PMID: 11514664) Kidd R.D. … Baker E.N. (Protein Sci. 2001) 3 4
  4. A post-transcriptional process contributes to efficient gamma-globin gene silencing in definitive erythroid cells. (PMID: 17976188) Russell J.E. (Eur. J. Haematol. 2007) 3 23
  5. High levels of human gamma-globin are expressed in adult mice carrying a transgene of the Brazilian type of hereditary persistence of fetal hemoglobin ((A)gamma -195). (PMID: 19958189) da Cunha A.F. … Costa F.F. (Hemoglobin 2009) 3 23

Products for HBG1 Gene

Sources for HBG1 Gene

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