| UniProt functional annotation for P69891 | |||
| UniProt code: P69891. |
| Organism: | Homo sapiens (Human). | |
| Taxonomy: | Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. | |
| Function: | Gamma chains make up the fetal hemoglobin F, in combination with alpha chains. | |
| Subunit: | Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F). In the case of deletions affecting one or more of the alpha chains, the excess gamma chains form homotetramers that exhibit neither Bohr effect nor heme-heme cooperativity (hemoglobin Bart's). {ECO:0000269|PubMed:11514664, ECO:0000269|PubMed:20925047, ECO:0000269|PubMed:21747884, ECO:0000269|PubMed:22096240}. | |
| Tissue specificity: | Red blood cells. | |
| Developmental stage: | Expressed until four or five weeks after birth. Detected at very low levels in adults, where it constitutes about 1% of the total hemoglobin. In contrast, the levels of fetal hemoglobin F (two alpha chains and two gamma chains) are increased in children and adults with beta-thalassemia or sickle-cell disease. In cases of homozygous alpha-thalassemia, homotetrameric hemoglobin Bart's is highly expressed and is the predominant form of hemoglobin after 10 weeks of gestation. Its levels increase steadily after 10 weeks of gestation and until birth (at protein level). {ECO:0000269|PubMed:20925047, ECO:0000269|PubMed:21747884, ECO:0000269|PubMed:22096240}. | |
| Induction: | By 5-azacytidine. {ECO:0000269|PubMed:16131492}. | |
| Ptm: | Acetylation of Gly-2 converts Hb F to the minor Hb F1. {ECO:0000269|PubMed:5554303}. | |
| Similarity: | Belongs to the globin family. {ECO:0000255|PROSITE- ProRule:PRU00238}. | |
Annotations taken from UniProtKB at the EBI.