HBG1

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

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)[1] Band 11p15.4 Start 5,248,269 bp[1] End 5,249,857 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta blood testicle ganglionic eminence monocyte bone marrow cell ventricular zone gastric mucosa gastrocnemius muscle left ventricle n/a More reference expression data BioGPS 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 Species Human Mouse 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 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

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]