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HBG1

From Wikipedia, the free encyclopedia
HBG1
Available structures
PDBHuman UniProt search:PDBeRCSB
List of PDB id codes

1I3D,1I3E

Identifiers
AliasesHBG1, HBG-T2, HBGA, HBGR, HSGGL1, PRO2979, hemoglobin subunit gamma 1
External IDsOMIM:142200;HomoloGene:133561;GeneCards:HBG1;OMA:HBG1 - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for HBG1
Genomic location for HBG1
Band11p15.4Start5,248,269bp[1]
End5,249,857bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • placenta

  • blood

  • testicle

  • ganglionic eminence

  • monocyte

  • bone marrow cells

  • ventricular zone

  • gastric mucosa

  • gastrocnemius muscle

  • left ventricle
    n/a
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3047

n/a

Ensembl

ENSG00000213934

n/a

UniProt

P69891

n/a

RefSeq (mRNA)

NM_000559

n/a

RefSeq (protein)

NP_000550

n/a

Location (UCSC)Chr 11: 5.25 – 5.25 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Hemoglobin subunit gamma-1 is aprotein that in humans is encoded by theHBG1gene.[3]

Function

[edit]

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) in the year following birth. In the non-pathological condition known as hereditary persistence of fetal hemoglobin (HPFH), gamma globin expression is continued into adulthood. Also, in cases of beta-thalassemia and related conditions, gamma chain production may be maintained, possibly as a mechanism to compensate for the mutated beta-globin. 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' -epsilongamma-Ggamma-Adeltabeta - 3'.[4]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000213934Ensembl, May 2017
  2. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989)."A review of the molecular genetics of the human alpha-globin gene cluster".Blood.73 (5):1081–104.doi:10.1182/blood.V73.5.1081.1081.PMID 2649166.
  4. ^"Entrez Gene: HBG1 hemoglobin, gamma A".

Further reading

[edit]

External links

[edit]
  • Overview of all the structural information available in thePDB forUniProt:P69891 (Hemoglobin subunit gamma-1) at thePDBe-KB.
PDB gallery
  • 1fdh: STRUCTURE OF HUMAN FOETAL DEOXYHAEMOGLOBIN
    1fdh: STRUCTURE OF HUMAN FOETAL DEOXYHAEMOGLOBIN
  • 1i3d: HUMAN CARBONMONOXY HEMOGLOBIN BART'S (GAMMA4)
    1i3d: HUMAN CARBONMONOXY HEMOGLOBIN BART'S (GAMMA4)
  • 1i3e: HUMAN AZIDO-MET HEMOGLOBIN BART'S (GAMMA4)
    1i3e: HUMAN AZIDO-MET HEMOGLOBIN BART'S (GAMMA4)
Proteins that containheme (hemoproteins)
Globins
Hemoglobin
Subunits
Alpha locus on16:
Beta locus on11:
Tetramers
stages of
development:
Embryonic
Fetal
Adult
pathology:
Compounds
Other human
Nonhuman
Other
human:
plant:
Other
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