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Protein

Hemoglobin subunit gamma-1

Gene

HBG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi64 – 641Iron (heme distal ligand)By similarity
Metal bindingi93 – 931Iron (heme proximal ligand)Combined sources1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Oxygen transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Names & Taxonomyi

Protein namesi
Recommended name:
Hemoglobin subunit gamma-1
Alternative name(s):
Gamma-1-globin
Hb F Agamma
Hemoglobin gamma-1 chain
Hemoglobin gamma-A chain
Gene namesi
Name:HBG1
ORF Names:PRO2979
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:4831. HBG1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiHBG1.
Orphaneti231237. Delta-beta-thalassemia.
46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
251380. Hereditary persistence of fetal hemoglobin - sickle cell disease.
PharmGKBiPA29206.

Polymorphism and mutation databases

BioMutaiHBG1.
DMDMi56749860.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedBy similarity
Chaini2 – 147146Hemoglobin subunit gamma-1PRO_0000053253Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylglycine; in form Hb F11 Publication
Modified residuei45 – 451PhosphoserineCombined sources
Modified residuei51 – 511PhosphoserineCombined sources
Modified residuei53 – 531PhosphoserineCombined sources
Modified residuei140 – 1401PhosphoserineCombined sources
Modified residuei143 – 1431PhosphoserineBy similarity
Modified residuei144 – 1441PhosphoserineBy similarity

Post-translational modificationi

Acetylation of Gly-2 converts Hb F to the minor Hb F1.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP69891.
PaxDbiP69891.
PeptideAtlasiP69891.
PRIDEiP69891.

PTM databases

iPTMnetiP69891.
PhosphoSiteiP69891.

Expressioni

Tissue specificityi

Red blood cells.

Developmental stagei

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).3 Publications

Inductioni

By 5-azacytidine.1 Publication

Gene expression databases

BgeeiENSG00000213934.
CleanExiHS_HBG1.
ExpressionAtlasiP69891. baseline and differential.
GenevisibleiP69891. HS.

Organism-specific databases

HPAiHPA043234.

Interactioni

Subunit structurei

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).4 Publications

Protein-protein interaction databases

BioGridi109297. 10 interactions.
IntActiP69891. 3 interactions.
STRINGi9606.ENSP00000338082.

Structurei

Secondary structure

1
147
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi6 – 1712Combined sources
Helixi21 – 3515Combined sources
Helixi37 – 4610Combined sources
Helixi52 – 576Combined sources
Helixi59 – 7517Combined sources
Helixi76 – 816Combined sources
Helixi82 – 854Combined sources
Helixi87 – 948Combined sources
Turni95 – 973Combined sources
Helixi101 – 11919Combined sources
Helixi120 – 1223Combined sources
Helixi125 – 14218Combined sources
Helixi144 – 1463Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1I3DX-ray1.70A/B2-147[»]
1I3EX-ray1.86A/B2-147[»]
ProteinModelPortaliP69891.
SMRiP69891. Positions 2-147.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP69891.

Family & Domainsi

Sequence similaritiesi

Belongs to the globin family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3378. Eukaryota.
COG1018. LUCA.
GeneTreeiENSGT00760000119197.
HOGENOMiHOG000036868.
HOVERGENiHBG009709.
InParanoidiP69891.
KOiK13824.
OMAiSKLHCDK.
OrthoDBiEOG091G0R7W.
PhylomeDBiP69891.
TreeFamiTF333268.

Family and domain databases

CDDicd08925. Hb-beta_like. 1 hit.
Gene3Di1.10.490.10. 1 hit.
InterProiIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin/Proto.
IPR002337. Haemoglobin_b.
[Graphical view]
PfamiPF00042. Globin. 1 hit.
[Graphical view]
PRINTSiPR00814. BETAHAEM.
SUPFAMiSSF46458. SSF46458. 1 hit.
PROSITEiPS01033. GLOBIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P69891-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS
60 70 80 90 100
SASAIMGNPK VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD
110 120 130 140
PENFKLLGNV LVTVLAIHFG KEFTPEVQAS WQKMVTAVAS ALSSRYH
Length:147
Mass (Da):16,140
Last modified:January 23, 2007 - v2
Checksum:i8FCDC3DA1B416DDE
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31H → Q in Macedonia-I. 1 Publication
Corresponds to variant rs35315638 [ dbSNP | Ensembl ].
VAR_003124
Natural varianti6 – 61E → K in Texas-1. 1 Publication
Corresponds to variant rs34427034 [ dbSNP | Ensembl ].
VAR_003125
Natural varianti7 – 71E → G in Izumi/Kotobuki. 2 Publications
Corresponds to variant rs34432567 [ dbSNP | Ensembl ].
VAR_003127
Natural varianti7 – 71E → Q in Pordenone. 1 Publication
Corresponds to variant rs33924825 [ dbSNP | Ensembl ].
VAR_003128
Natural varianti13 – 131T → R in Calluna. 1 Publication
Corresponds to variant rs33992775 [ dbSNP | Ensembl ].
VAR_003130
Natural varianti23 – 231D → G in Kuala Lumpur. 1 Publication
Corresponds to variant rs33970907 [ dbSNP | Ensembl ].
VAR_003135
Natural varianti26 – 261G → R in Xinjiang; unstable. 1 Publication
Corresponds to variant rs35957832 [ dbSNP | Ensembl ].
VAR_003138
Natural varianti37 – 371P → R in Pendergrass. 1 Publication
Corresponds to variant rs41404150 [ dbSNP | Ensembl ].
VAR_003141
Natural varianti38 – 381W → G in Cobb. 1 Publication
Corresponds to variant rs35700518 [ dbSNP | Ensembl ].
VAR_003142
Natural varianti40 – 401Q → R in Bonaire. 1 Publication
Corresponds to variant rs35977759 [ dbSNP | Ensembl ].
VAR_003143
Natural varianti41 – 411R → K in Woodstock. 1 Publication
Corresponds to variant rs33974602 [ dbSNP | Ensembl ].
VAR_003145
Natural varianti44 – 441D → N in Fukuyama. 1 Publication
Corresponds to variant rs41475844 [ dbSNP | Ensembl ].
VAR_003147
Natural varianti54 – 541A → D in Beech island. 1 Publication
Corresponds to variant rs35746147 [ dbSNP | Ensembl ].
VAR_003149
Natural varianti62 – 621K → E in Jamaica. 1 Publication
Corresponds to variant rs34747494 [ dbSNP | Ensembl ].
VAR_003153
Natural varianti73 – 731G → R in Iwata. 1 Publication
Corresponds to variant rs281860594 [ dbSNP | Ensembl ].
VAR_003158
Natural varianti74 – 741D → H in Xin-su. 1 Publication
VAR_003160
Natural varianti74 – 741D → N in Forest Park; associated with T-76.
VAR_003159
Natural varianti76 – 761I → T in Sardinia/Forest Park; associated with N-74. 2 Publications
Corresponds to variant rs1061234 [ dbSNP | Ensembl ].
VAR_003161
Natural varianti80 – 801D → N in Dammam. 1 Publication
VAR_003163
Natural varianti81 – 811D → N in Yamaguchi. 1 Publication
Corresponds to variant rs63751148 [ dbSNP | Ensembl ].
VAR_003165
Natural varianti81 – 811D → Y in Victoria jubilee. 1 Publication
Corresponds to variant rs63751148 [ dbSNP | Ensembl ].
VAR_003164
Natural varianti98 – 981H → R in Dickinson. 1 Publication
VAR_003168
Natural varianti122 – 1221E → K in Siena/Hull. 2 Publications
Corresponds to variant rs34647752 [ dbSNP | Ensembl ].
VAR_003173
Natural varianti129 – 1291A → T in Baskent. 1 Publication
Corresponds to variant rs41330850 [ dbSNP | Ensembl ].
VAR_003175
Natural varianti135 – 1351V → M in Jiangsu. 1 Publication
Corresponds to variant rs35849660 [ dbSNP | Ensembl ].
VAR_003177

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M91036 Genomic DNA. Translation: AAB59429.1.
M91037 Genomic DNA. Translation: AAA58493.1.
V00513 Genomic DNA. Translation: CAA23771.1.
V00514 Genomic DNA. Translation: CAA23772.1.
J00176 Genomic DNA. Translation: AAA52637.1.
U01317 Genomic DNA. Translation: AAA16332.1.
AF130098 mRNA. Translation: AAG35523.1.
CH471064 Genomic DNA. Translation: EAW68804.1.
BC010913 mRNA. Translation: AAH10913.1.
BC020719 mRNA. Translation: AAH20719.1.
AF487523 Genomic DNA. Translation: AAL99545.1.
CCDSiCCDS7754.1.
PIRiA90803. HGHUA.
RefSeqiNP_000550.2. NM_000559.2.
UniGeneiHs.702189.

Genome annotation databases

EnsembliENST00000330597; ENSP00000327431; ENSG00000213934.
GeneIDi3047.
KEGGihsa:3047.
UCSCiuc001mah.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

HbVar

Human hemoglobin variants and thalassemias

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M91036 Genomic DNA. Translation: AAB59429.1.
M91037 Genomic DNA. Translation: AAA58493.1.
V00513 Genomic DNA. Translation: CAA23771.1.
V00514 Genomic DNA. Translation: CAA23772.1.
J00176 Genomic DNA. Translation: AAA52637.1.
U01317 Genomic DNA. Translation: AAA16332.1.
AF130098 mRNA. Translation: AAG35523.1.
CH471064 Genomic DNA. Translation: EAW68804.1.
BC010913 mRNA. Translation: AAH10913.1.
BC020719 mRNA. Translation: AAH20719.1.
AF487523 Genomic DNA. Translation: AAL99545.1.
CCDSiCCDS7754.1.
PIRiA90803. HGHUA.
RefSeqiNP_000550.2. NM_000559.2.
UniGeneiHs.702189.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1I3DX-ray1.70A/B2-147[»]
1I3EX-ray1.86A/B2-147[»]
ProteinModelPortaliP69891.
SMRiP69891. Positions 2-147.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109297. 10 interactions.
IntActiP69891. 3 interactions.
STRINGi9606.ENSP00000338082.

PTM databases

iPTMnetiP69891.
PhosphoSiteiP69891.

Polymorphism and mutation databases

BioMutaiHBG1.
DMDMi56749860.

Proteomic databases

MaxQBiP69891.
PaxDbiP69891.
PeptideAtlasiP69891.
PRIDEiP69891.

Protocols and materials databases

DNASUi3047.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330597; ENSP00000327431; ENSG00000213934.
GeneIDi3047.
KEGGihsa:3047.
UCSCiuc001mah.2. human.

Organism-specific databases

CTDi3047.
GeneCardsiHBG1.
H-InvDBHIX0009388.
HGNCiHGNC:4831. HBG1.
HPAiHPA043234.
MalaCardsiHBG1.
MIMi142200. gene.
neXtProtiNX_P69891.
Orphaneti231237. Delta-beta-thalassemia.
46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
251380. Hereditary persistence of fetal hemoglobin - sickle cell disease.
PharmGKBiPA29206.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3378. Eukaryota.
COG1018. LUCA.
GeneTreeiENSGT00760000119197.
HOGENOMiHOG000036868.
HOVERGENiHBG009709.
InParanoidiP69891.
KOiK13824.
OMAiSKLHCDK.
OrthoDBiEOG091G0R7W.
PhylomeDBiP69891.
TreeFamiTF333268.

Enzyme and pathway databases

ReactomeiR-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

ChiTaRSiHBG1. human.
EvolutionaryTraceiP69891.
GenomeRNAii3047.
PROiP69891.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213934.
CleanExiHS_HBG1.
ExpressionAtlasiP69891. baseline and differential.
GenevisibleiP69891. HS.

Family and domain databases

CDDicd08925. Hb-beta_like. 1 hit.
Gene3Di1.10.490.10. 1 hit.
InterProiIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin/Proto.
IPR002337. Haemoglobin_b.
[Graphical view]
PfamiPF00042. Globin. 1 hit.
[Graphical view]
PRINTSiPR00814. BETAHAEM.
SUPFAMiSSF46458. SSF46458. 1 hit.
PROSITEiPS01033. GLOBIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHBG1_HUMAN
AccessioniPrimary (citable) accession number: P69891
Secondary accession number(s): P02096
, P62027, Q549G1, Q8TDA1, Q96FH7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: September 7, 2016
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

The modification form of Leu-142 is subject of controversy and could be the artifactual result of sample handling.1 Publication

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.