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

Gene ID: 3047, updated on 26-May-2016
Official Symbol
HBG1provided by HGNC
Official Full Name
hemoglobin subunit gamma 1provided by HGNC
Primary source
HGNC:HGNC:4831
See related
Ensembl:ENSG00000213934 HPRD:00789; 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]
Orthologs
Location:
11p15.5
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (5248272..5249857, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5269502..5271087, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene hemoglobin subunit beta pseudogene 1 Neighboring gene beta globin locus transcript 3 (non-protein coding) Neighboring gene hemoglobin subunit gamma 2 Neighboring gene hemoglobin subunit epsilon 1 Neighboring gene locus control region, beta

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Fetal hemoglobin quantitative trait locus 1
MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
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NHGRI GWAS Catalog

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

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

  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxygen binding IEA
Inferred from Electronic Annotation
more info
 
oxygen transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
oxygen transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
hemoglobin complex IEA
Inferred from Electronic Annotation
more info
 
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

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_000559.2NP_000550.2  hemoglobin subunit gamma-1

    See identical proteins and their annotated locations for NP_000550.2

    Status: REVIEWED

    Source sequence(s)
    M91036
    Consensus CDS
    CCDS7754.1
    UniProtKB/Swiss-Prot
    P69891
    UniProtKB/TrEMBL
    D9YZU8
    Related
    ENSP00000327431, OTTHUMP00000069646, ENST00000330597, OTTHUMT00000142982
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    5248272..5249857 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    5268433..5270004 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)