P69891 · HBG1_HUMAN
- ProteinHemoglobin subunit gamma-1
- GeneHBG1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids147 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | haptoglobin-hemoglobin complex | |
Cellular Component | hemoglobin complex | |
Molecular Function | heme binding | |
Molecular Function | hemoglobin alpha binding | |
Molecular Function | metal ion binding | |
Molecular Function | organic acid binding | |
Molecular Function | oxygen binding | |
Molecular Function | oxygen carrier activity | |
Biological Process | carbon dioxide transport | |
Biological Process | cellular oxidant detoxification | |
Biological Process | hydrogen peroxide catabolic process | |
Biological Process | oxygen transport |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameHemoglobin subunit gamma-1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP69891
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Disease & Variants
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_003124 | 3 | in Macedonia-I; dbSNP:rs35315638 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_003125 | 6 | in Texas-1; dbSNP:rs34427034 | |||
Sequence: E → K | ||||||
Natural variant | VAR_003127 | 7 | in Izumi/Kotobuki; dbSNP:rs34432567 | |||
Sequence: E → G | ||||||
Natural variant | VAR_003128 | 7 | in Pordenone; dbSNP:rs33924825 | |||
Sequence: E → Q | ||||||
Natural variant | VAR_003130 | 13 | in Calluna; dbSNP:rs33992775 | |||
Sequence: T → R | ||||||
Natural variant | VAR_003135 | 23 | in Kuala Lumpur; dbSNP:rs33970907 | |||
Sequence: D → G | ||||||
Natural variant | VAR_003138 | 26 | in Xinjiang; unstable; dbSNP:rs35957832 | |||
Sequence: G → R | ||||||
Natural variant | VAR_003141 | 37 | in Pendergrass; dbSNP:rs41404150 | |||
Sequence: P → R | ||||||
Natural variant | VAR_003142 | 38 | in Cobb; dbSNP:rs35700518 | |||
Sequence: W → G | ||||||
Natural variant | VAR_003143 | 40 | in Bonaire; dbSNP:rs35977759 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_003145 | 41 | in Woodstock; dbSNP:rs33974602 | |||
Sequence: R → K | ||||||
Natural variant | VAR_003147 | 44 | in Fukuyama; dbSNP:rs41475844 | |||
Sequence: D → N | ||||||
Natural variant | VAR_003149 | 54 | in Beech island; dbSNP:rs35746147 | |||
Sequence: A → D | ||||||
Natural variant | VAR_003153 | 62 | in Jamaica; dbSNP:rs34747494 | |||
Sequence: K → E | ||||||
Natural variant | VAR_003158 | 73 | in Iwata; dbSNP:rs34049890 | |||
Sequence: G → R | ||||||
Natural variant | VAR_003160 | 74 | in Xin-su; dbSNP:rs33965337 | |||
Sequence: D → H | ||||||
Natural variant | VAR_003159 | 74 | in Forest Park; dbSNP:rs33965337 | |||
Sequence: D → N | ||||||
Natural variant | VAR_003161 | 76 | in dbSNP:rs1061234 | |||
Sequence: T → I | ||||||
Natural variant | VAR_003163 | 80 | in Dammam; dbSNP:rs34435255 | |||
Sequence: D → N | ||||||
Natural variant | VAR_003165 | 81 | in Yamaguchi; dbSNP:rs33947112 | |||
Sequence: D → N | ||||||
Natural variant | VAR_003164 | 81 | in Victoria jubilee; dbSNP:rs33947112 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_003168 | 98 | in Dickinson; dbSNP:rs34127117 | |||
Sequence: H → R | ||||||
Natural variant | VAR_003173 | 122 | in Siena/Hull; dbSNP:rs33963857 | |||
Sequence: E → K | ||||||
Natural variant | VAR_003175 | 129 | in Baskent; dbSNP:rs41330850 | |||
Sequence: A → T | ||||||
Natural variant | VAR_003177 | 135 | in Jiangsu; dbSNP:rs35849660 | |||
Sequence: V → M |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 145 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Modified residue | 2 | UniProt | N-acetylglycine; in form Hb F1 | ||||
Sequence: G | |||||||
Chain | PRO_0000053253 | 2-147 | UniProt | Hemoglobin subunit gamma-1 | |||
Sequence: GHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH | |||||||
Modified residue | 13 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 45 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 51 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 53 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 53 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 60 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue | 83 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue | 94 | UniProt | S-nitrosocysteine | ||||
Sequence: C | |||||||
Modified residue | 140 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 140 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Acetylation of Gly-2 converts Hb F to the minor Hb F1.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Red blood cells.
Induction
By 5-azacytidine.
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).
Gene expression databases
Organism-specific databases
Interaction
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).
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 3-147 | Globin | ||||
Sequence: HFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH |
Sequence similarities
Belongs to the globin family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length147
- Mass (Da)16,128
- Last updated2024-01-24 v3
- Checksum0CE4D9E932416DCF
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E9PBW4 | E9PBW4_HUMAN | HBG2 | 92 | ||
A0A0J9YYA3 | A0A0J9YYA3_HUMAN | HBG1 | 30 |
Polymorphism
The variant Thr-76 shown in this entry has been called Sardinia.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M91036 EMBL· GenBank· DDBJ | AAB59429.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
M91037 EMBL· GenBank· DDBJ | AAA58493.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
V00513 EMBL· GenBank· DDBJ | CAA23771.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
V00514 EMBL· GenBank· DDBJ | CAA23772.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
J00176 EMBL· GenBank· DDBJ | AAA52637.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U01317 EMBL· GenBank· DDBJ | AAA16332.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF130098 EMBL· GenBank· DDBJ | AAG35523.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471064 EMBL· GenBank· DDBJ | EAW68804.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC010913 EMBL· GenBank· DDBJ | AAH10913.1 EMBL· GenBank· DDBJ | mRNA | ||
BC020719 EMBL· GenBank· DDBJ | AAH20719.1 EMBL· GenBank· DDBJ | mRNA | ||
AF487523 EMBL· GenBank· DDBJ | AAL99545.1 EMBL· GenBank· DDBJ | Genomic DNA |