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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
  • GC11M005262
  • GC11M005266
  • GC11M005272
  • GC11M005273

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 Response to elevated platelet cytosolic Ca2+ and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is ENSG00000284931.

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

Additional gene information for HBG1 Gene

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

Genomics for HBG1 Gene

GeneHancer (GH) Regulatory Elements for HBG1 Gene

Promoters and enhancers for HBG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J005249 Promoter/Enhancer 1 EPDnew dbSUPER 650.7 0.0 -18 0.1 NCOR1 ARNT DPF2 NCOA2 HBG1 ENSG00000284931 GC11M005255 GC11M005277 GC11P005064
GH11J005287 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 19.1 -38.9 -38883 3.2 HDGF ATF1 PKNOX1 SMAD1 NCOA2 TCF12 ZNF766 GATA2 FOS ATF7 HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 OR52A4P OR51M1
GH11J005274 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 13.7 -25.7 -25682 2.2 HDGF ATF1 ARNT TCF12 POLR2B GATA2 ATF7 NCOA1 ZNF592 MBD2 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005280 ENSG00000284931
GH11J005272 Enhancer 0.7 dbSUPER 18.3 -23.0 -23003 1.6 HDGF BACH1 CEBPG ZNF316 NFE2 ATF7 MAFK NFE2L2 MAFG CEBPB HBG1 HBBP1 HBD HBB ENSG00000221031 OR51V1 OR51B4 HBG2 GC11M005280 ENSG00000284931
GH11J005281 Enhancer 0.6 FANTOM5 dbSUPER 20.1 -29.1 -29056 0.2 NFYB NR2C1 ZNF592 HBD HBG2 HBG1 HBB ENSG00000221031 HBBP1 OR51B4 GC11M005280 ENSG00000284931 GC11P005064
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBG1 gene promoter:
  • TBP
  • TFIID
  • STAT3
  • GATA-1
  • c-Myb

Genomic Locations for HBG1 Gene

Genomic Locations for HBG1 Gene
chr11:5,248,079-5,249,859
(GRCh38/hg38)
Size:
1,781 bases
Orientation:
Minus strand
chr11:5,269,313-5,271,122
(GRCh37/hg19)
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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

UniProtKB/Swiss-Prot Function:
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
UniProtKB/Swiss-Prot Induction:
By 5-azacytidine.
GENATLAS Biochemistry:
globin,gamma A,fetal (A 136)

Phenotypes From GWAS Catalog for HBG1 Gene

Gene Ontology (GO) - Molecular Function for HBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen carrier 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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBG1 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

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

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

Unigene Clusters for HBG1 Gene

Hemoglobin, gamma A:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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.

Evidence on tissue expression from TISSUES for HBG1 Gene

  • Spleen(4.8)
  • Lung(4.6)
  • Nervous system(4.3)
  • Heart(4.2)
  • Liver(3.6)
  • Blood(2.7)
  • Saliva(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HBG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • skeleton
Regions:
Thorax:
  • thymus
Abdomen:
  • liver
  • spleen
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with HBG1: view

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 34
  • 99 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 79 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Hbe2 33
  • 78.23 (n)
mouse
(Mus musculus)
Mammalia Hbb-bh1 34
  • 76 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HBE4 34
  • 74 (a)
ManyToMany
HBE2 34
  • 71 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HBB 34
  • 70 (a)
ManyToMany
HBE1 34
  • 69 (a)
ManyToMany
HBG1 34
  • 67 (a)
ManyToMany
HBE 34
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 62 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hbaa1 34 34
  • 41 (a)
ManyToMany
si:ch211-5k11.6 34
  • 41 (a)
ManyToMany
hbz 34
  • 41 (a)
ManyToMany
hbae3 34
  • 41 (a)
ManyToMany
si:ch211-5k11.2 34
  • 38 (a)
ManyToMany
hbae1 34 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HBG1: view image

Paralogs for HBG1 Gene

Paralogs for HBG1 Gene

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

  • HBG1_HUMAN
  • B8XXQ5_HUMAN
  • D3GKD8_HUMAN
  • D9YZU8_HUMAN
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 Variation AA Info Type
rs1061234 benign, other, HBG1 POLYMORPHISM, HEMOGLOBIN F (CHARLOTTE), HEMOGLOBIN F (PORTO TORRES), HEMOGLOBIN F (SARDINIA), not specified 5,249,456(-) G/A coding_sequence_variant, missense_variant
rs281860601 pathogenic, Fetal hemoglobin quantitative trait locus 1 5,249,971(-) G/A/T upstream_transcript_variant
rs33924825 other, HEMOGLOBIN F (PORDENONE) 5,249,786(-) C/G/T coding_sequence_variant, missense_variant
rs33947112 other, HEMOGLOBIN F (VICTORIA JUBILEE), HEMOGLOBIN F (YAMAGUCHI) 5,249,442(-) C/A/T coding_sequence_variant, missense_variant
rs33963857 other, HEMOGLOBIN F (SIENA), HEMOGLOBIN F (HULL) 5,248,439(-) C/A/G/T coding_sequence_variant, missense_variant, stop_gained

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)

Additional Variant Information for HBG1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HBG1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HBG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HBG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HBG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  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 AF … Costa FF (Hemoglobin 2009) 3 22 58
  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 SP … Faller DV (European journal of haematology 2009) 3 22 58
  4. A post-transcriptional process contributes to efficient gamma-globin gene silencing in definitive erythroid cells. (PMID: 17976188) Russell JE (European journal of haematology 2007) 3 22 58
  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 CA … Peterson KR (The Journal of biological chemistry 2005) 4 22 58

Products for HBG1 Gene

Sources for HBG1 Gene

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