HBG1

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HBG1
Protein HBG1 PDB 1fdh.png
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesHBG1, HBG-T2, HBGA, HBGR, HSGGL1, PRO2979, hemoglobin subunit gamma 1
External IDsHomoloGene: 133561 GeneCards: HBG1
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for HBG1
Genomic location for HBG1
Band11p15.4Start5,248,079 bp[1]
End5,249,859 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 a protein that in humans is encoded by the HBG1 gene.[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. ^ a b c GRCh38: Ensembl release 89: ENSG00000213934 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". 
  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. PMID 2649166. 
  4. ^ "Entrez Gene: HBG1 hemoglobin, gamma A". 

Further reading[edit]