HBG1

HBG1
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	1I3D, 1I3E
Identifiers
Aliases	HBG1, HBG-T2, HBGA, HBGR, HSGGL1, PRO2979, hemoglobin subunit gamma 1
External IDs	OMIM: 142200; HomoloGene: 133561; GeneCards: HBG1; OMA:HBG1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	5,249,857 bp
RNA expression pattern
	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
	n/a
Gene ontology
Molecular function	oxygen binding; heme binding; metal ion binding; oxygen carrier activity; peroxidase activity; protein binding; haptoglobin binding; organic acid binding;
Cellular component	hemoglobin complex; cytosol; haptoglobin-hemoglobin complex;
Biological process	blood coagulation; oxygen transport; hydrogen peroxide catabolic process; protein heterooligomerization; cellular oxidant detoxification;
	Sources:Amigo / QuickGO
Orthologs
	3047
	n/a
	ENSG00000213934
	n/a
	P69891
	n/a
	NM_000559
	n/a
	NP_000550
	n/a
	Wikidata
View/Edit Human

Hemoglobin subunit gamma-1 is a protein that in humans is encoded by the HBG1 gene.^[3]

Function

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' - epsilon – gamma-G – gamma-A – delta – beta - 3'.^[4]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000213934 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: HBG1 hemoglobin, gamma A".

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Waye JS, Cai SP, Eng B, et al. (1993). "Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya". Am. J. Hematol. 41 (4): 289–91. doi:10.1002/ajh.2830410413. PMID 1283810. S2CID 35045351.
Bailey WJ, Hayasaka K, Skinner CG, et al. (1994). "Reexamination of the African hominoid trichotomy with additional sequences from the primate beta-globin gene cluster". Mol. Phylogenet. Evol. 1 (2): 97–135. doi:10.1016/1055-7903(92)90024-B. PMID 1342932.
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