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Description for Protein HBG1

hemoglobin, gamma A
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(microparticles: 1)
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K13824
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
-
Approved Symbol:
HBG1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Heme(db)

    Associated Genetic Diseases:

  • Fetal hemoglobin, A-gamma type, reduction in(Pd);
  • HBG1 polymorphism(Pd);
  • Hemoglobin F (Baskent)(Pd);
  • Hemoglobin F (Beech Island)(Pd);
  • Hemoglobin F (Bonaire)(Pd);
  • Hemoglobin F (Calluna)(Pd);
  • Hemoglobin F (Charlotte)(Pd);
  • Hemoglobin F (Cobb)(Pd);
  • Hemoglobin F (Dammam)(Pd);
  • Hemoglobin F (Dickinson)(Pd);
  • Hemoglobin F (Fukuyama)(Pd);
  • Hemoglobin F (Iwata)(Pd);
  • Hemoglobin F (Izumi)(Pd);
  • Hemoglobin F (Jamaica)(Pd);
  • Hemoglobin F (Jiangsu)(Pd);
  • Hemoglobin F (Kotobuki)(Pd);
  • Hemoglobin F (Kuala Lumpur)(Pd);
  • Hemoglobin F (Macedonia-I)(Pd);
  • Hemoglobin F (Pendergrass)(Pd);
  • Hemoglobin F (Pordenone)(Pd);
  • Hemoglobin F (Porto Torres)(Pd);
  • Hemoglobin F (Sardinia)(Pd);
  • Hemoglobin F (Siena)(Pd);
  • Hemoglobin F (Texas I)(Pd);
  • Hemoglobin F (Victoria Jubilee)(Pd);
  • Hemoglobin F (Woodstock)(Pd);
  • Hemoglobin F (Xin-Su)(Pd);
  • Hemoglobin F (Xinjiang)(Pd);
  • Hemoglobin F (Yamaguchi)(Pd);
  • Hemoglobin Kenya(Pd);
  • Hereditary persistence of fetal Hemoglobin Due to mutation in HBG1 promoter(Pd);
  • Hereditary persistence of fetal hemoglobin, brazilian type, due to mutation in HBG1 promoter(Pd);
  • Hereditary persistence of fetal hemoglobin, Cretan type, due to mutation in HBG1 promoter(Pd);
  • Hereditary persistence of fetal hemoglobin, Georgia type, due to mutation in HBG1 promoter(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00789 Entrez Gene ID: 3047 OMIM ID: 142200 Swissprot Accession: P69891;