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Aliases for HBG1 Gene

Aliases for HBG1 Gene

  • Hemoglobin Subunit Gamma 1 2 3 5
  • Hemoglobin Gamma-1 Chain 3 4
  • Hemoglobin Gamma-A Chain 3 4
  • Hemoglobin, Gamma A 2 3
  • 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
  • GC11M005258
  • GC11M005259
  • GC11M005260
  • GC11M005261

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 Subunit Gamma 1) is a Protein Coding gene. Diseases associated with HBG1 include Fetal Hemoglobin Quantitative Trait Locus 1 and Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome. Among its related pathways are Factors involved in megakaryocyte development and platelet production and IL-2 Pathway. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBG2.

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

Enhancers for HBG1 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
GH11F005278 0.4 FANTOM5 20.1 -29.0 -29023 0.2 NFYB HBD HBG2 HBG1 HBB ENSG00000221031 HBBP1 OR51B4 GC11M005280 ENSG00000279346
GH11F005287 1.2 FANTOM5 ENCODE 19.1 -38.9 -38850 3.2 YBX3 TBP HDAC1 CBX3 ATF1 ARNT TBL1XR1 GATA2 FOS CREM HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 OR52A4P OR51M1
GH11F005274 1 FANTOM5 ENCODE 13.7 -25.7 -25650 2.2 TBP HDAC1 CBX3 ATF1 ARNT TBL1XR1 CHAMP1 GATA2 CREM ZBTB2 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005280 ENSG00000279346
GH11F005284 0.7 ENCODE 10.5 -36.0 -35966 1.8 TAL1 RELA ZKSCAN1 ZNF316 NCOR1 POLR2A NR2F6 STAT1 ZBTB11 NCOA1 ENSG00000224091 HBB ENSG00000221031 HBBP1 HBD OR51V1 HBG1 OR51B5 GC11M005283 LCRB
GH11F005242 0.2 Ensembl 7.2 +5.6 5596 3.4 HDAC1 CBX3 PKNOX1 ZBTB40 CHAMP1 GATA2 SIRT6 CREM SMARCA5 SMAD5 HBG2 HBG1 GC11M005252 HBBP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HBG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HBG1 Gene

Chromosome:
11
Start:
5,248,083 bp from pter
End:
5,249,892 bp from pter
Size:
1,810 bases
Orientation:
Minus strand

Genomic View for HBG1 Gene

Genes around HBG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P69891-HBG1_HUMAN
    Recommended name:
    Hemoglobin subunit gamma-1
    Protein Accession:
    P69891
    Secondary Accessions:
    • P02096
    • P62027
    • Q549G1
    • Q8TDA1
    • Q96FH7

    Protein attributes for HBG1 Gene

    Size:
    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

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:
REFSEQ proteins:

No data available for DME Specific Peptides for HBG1 Gene

Domains & Families 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

P69891

UniProtKB/Swiss-Prot:

HBG1_HUMAN :
  • Belongs to the globin family.
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.
UniProtKB/Swiss-Prot Induction:
By 5-azacytidine.

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 --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HBG1: view
genes like me logo Genes that share phenotypes with HBG1: view

Human Phenotype Ontology for HBG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for HBG1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HBG1 Gene COMPARTMENTS Subcellular localization image for HBG1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2

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 & Interactions for HBG1 Gene

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

Pathways by source for HBG1 Gene

1 Cell Signaling Technology pathway 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:0006810 transport IEA --
GO:0007596 blood coagulation TAS --
GO:0015671 oxygen transport IEA --
genes like me logo Genes that share ontologies with HBG1: view

No data available for SIGNOR curated interactions for HBG1 Gene

Drugs & Compounds for HBG1 Gene

(19) Drugs for HBG1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

(11) Additional Compounds for HBG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HBG1: view

Transcripts for HBG1 Gene

mRNA/cDNA for HBG1 Gene

Unigene Clusters for HBG1 Gene

Hemoglobin, gamma A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
HBG1
ECgene alternative splicing isoforms for
HBG1

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 (x48.9).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HBG1 Gene



Protein tissue co-expression partners for HBG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HBG1 Gene:

HBG1

SOURCE GeneReport for Unigene cluster for HBG1 Gene:

Hs.702189

mRNA Expression by UniProt/SwissProt for HBG1 Gene:

P69891-HBG1_HUMAN
Tissue specificity: Red blood cells.
genes like me logo Genes that share expression patterns with HBG1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia HBG2 35
  • 99 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 79 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Hbe2 34
  • 78.23 (n)
mouse
(Mus musculus)
Mammalia Hbb-bh1 35
  • 76 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HBE4 35
  • 74 (a)
ManyToMany
HBE2 35
  • 71 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HBB 35
  • 70 (a)
ManyToMany
HBE1 35
  • 69 (a)
ManyToMany
HBG1 35
  • 67 (a)
ManyToMany
HBE 35
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 62 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hbaa1 35 35
  • 41 (a)
ManyToMany
hbae3 35
  • 41 (a)
ManyToMany
hbz 35
  • 41 (a)
ManyToMany
si:ch211-5k11.6 35
  • 41 (a)
ManyToMany
hbae1 35 35
  • 38 (a)
ManyToMany
si:ch211-5k11.2 35
  • 38 (a)
ManyToMany
Species where no ortholog for HBG1 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)
  • 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

ENSEMBL:
Gene Tree for HBG1 (if available)
TreeFam:
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
rs281860601 Pathogenic 5,249,971(-) TTGAC(C/T)AATAG upstream-variant-2KB
rs35321913 Pathogenic 5,250,052(-) CTTCC(C/G)CACAC upstream-variant-2KB
rs35378915 Pathogenic 5,249,974(-) GCCTT(A/G)ACCAA upstream-variant-2KB
rs35710727 Pathogenic 5,250,055(-) CCCCT(C/T)CCCCA upstream-variant-2KB
rs35983258 Pathogenic 5,250,053(-) CCTTC(C/T)CCACA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1597n54 CNV loss 21841781
dgv183e214 CNV loss 21293372
dgv194n67 CNV gain 20364138
esv2648523 CNV deletion 19546169
esv2671356 CNV deletion 23128226
esv2744059 CNV deletion 23290073
esv3547249 CNV deletion 23714750
esv3625218 CNV loss 21293372
esv5471 CNV loss 19470904
nsv1036997 CNV gain 25217958
nsv553229 CNV gain 21841781
nsv982976 CNV duplication 23825009
nsv983203 CNV duplication 23825009

Variation tolerance for HBG1 Gene

Gene Damage Index Score: 0.17; 3.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HBG1 Gene

Human Gene Mutation Database (HGMD)
HBG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBG1

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

Disorders for HBG1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for HBG1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fetal hemoglobin quantitative trait locus 1
  • hereditary persistence of fetal hemoglobin
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
  • hpfh-beta-thalassemia syndrome
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
  • hpfh-sickle cell disease syndrome
sickle cell disease
  • hbs disease
sickle cell anemia
  • drepanocytosis
- elite association - COSMIC cancer census association via MalaCards
Search HBG1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HBG1

Genetic Association Database (GAD)
HBG1
Human Genome Epidemiology (HuGE) Navigator
HBG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HBG1
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 22 46 64
  2. 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 22 64
  3. 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 22 64
  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 22 64
  5. {gamma}-Globin gene expression in chemical inducer of dimerization (CID)-dependent multipotential cells established from human {beta}-globin locus yeast artificial chromosome ({beta}-YAC) transgenic mice. (PMID: 16131492) Blau C.A. … Peterson K.R. (J. Biol. Chem. 2005) 4 22 64

Products for HBG1 Gene

Sources for HBG1 Gene

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