Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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)DescriptionActionsGraphical viewLength
Metal bindingi64Iron (heme distal ligand)By similarity1
Metal bindingi93Iron (heme proximal ligand)Combined sources1 Publication1

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

DisGeNETi3047.
MalaCardsiHBG1.
OpenTargetsiENSG00000196565.
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)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000532532 – 147Hemoglobin subunit gamma-1Add BLAST146

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylglycine; in form Hb F11 Publication1
Modified residuei45PhosphoserineCombined sources1
Modified residuei51PhosphoserineCombined sources1
Modified residuei53PhosphoserineCombined sources1
Modified residuei140PhosphoserineCombined sources1

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.
PhosphoSitePlusiP69891.

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 interactors.
IntActiP69891. 3 interactors.
STRINGi9606.ENSP00000338082.

Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi6 – 17Combined sources12
Helixi21 – 35Combined sources15
Helixi37 – 46Combined sources10
Helixi52 – 57Combined sources6
Helixi59 – 75Combined sources17
Helixi76 – 81Combined sources6
Helixi82 – 85Combined sources4
Helixi87 – 94Combined sources8
Turni95 – 97Combined sources3
Helixi101 – 119Combined sources19
Helixi120 – 122Combined sources3
Helixi125 – 142Combined sources18
Helixi144 – 146Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1I3DX-ray1.70A/B2-147[»]
1I3EX-ray1.86A/B2-147[»]
ProteinModelPortaliP69891.
SMRiP69891.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0031243H → Q in Macedonia-I. 1 PublicationCorresponds to variant rs35315638dbSNPEnsembl.1
Natural variantiVAR_0031256E → K in Texas-1. 1 PublicationCorresponds to variant rs34427034dbSNPEnsembl.1
Natural variantiVAR_0031277E → G in Izumi/Kotobuki. 2 PublicationsCorresponds to variant rs34432567dbSNPEnsembl.1
Natural variantiVAR_0031287E → Q in Pordenone. 1 PublicationCorresponds to variant rs33924825dbSNPEnsembl.1
Natural variantiVAR_00313013T → R in Calluna. 1 PublicationCorresponds to variant rs33992775dbSNPEnsembl.1
Natural variantiVAR_00313523D → G in Kuala Lumpur. 1 PublicationCorresponds to variant rs33970907dbSNPEnsembl.1
Natural variantiVAR_00313826G → R in Xinjiang; unstable. 1 PublicationCorresponds to variant rs35957832dbSNPEnsembl.1
Natural variantiVAR_00314137P → R in Pendergrass. 1 PublicationCorresponds to variant rs41404150dbSNPEnsembl.1
Natural variantiVAR_00314238W → G in Cobb. 1 PublicationCorresponds to variant rs35700518dbSNPEnsembl.1
Natural variantiVAR_00314340Q → R in Bonaire. 1 PublicationCorresponds to variant rs35977759dbSNPEnsembl.1
Natural variantiVAR_00314541R → K in Woodstock. 1 PublicationCorresponds to variant rs33974602dbSNPEnsembl.1
Natural variantiVAR_00314744D → N in Fukuyama. 1 PublicationCorresponds to variant rs41475844dbSNPEnsembl.1
Natural variantiVAR_00314954A → D in Beech island. 1 PublicationCorresponds to variant rs35746147dbSNPEnsembl.1
Natural variantiVAR_00315362K → E in Jamaica. 1 PublicationCorresponds to variant rs34747494dbSNPEnsembl.1
Natural variantiVAR_00315873G → R in Iwata. 1 PublicationCorresponds to variant rs281860594dbSNPEnsembl.1
Natural variantiVAR_00316074D → H in Xin-su. 1 Publication1
Natural variantiVAR_00315974D → N in Forest Park; associated with T-76. 1
Natural variantiVAR_00316176I → T in Sardinia/Forest Park; associated with N-74. 2 PublicationsCorresponds to variant rs1061234dbSNPEnsembl.1
Natural variantiVAR_00316380D → N in Dammam. 1 Publication1
Natural variantiVAR_00316581D → N in Yamaguchi. 1 PublicationCorresponds to variant rs63751148dbSNPEnsembl.1
Natural variantiVAR_00316481D → Y in Victoria jubilee. 1 PublicationCorresponds to variant rs63751148dbSNPEnsembl.1
Natural variantiVAR_00316898H → R in Dickinson. 1 Publication1
Natural variantiVAR_003173122E → K in Siena/Hull. 2 PublicationsCorresponds to variant rs34647752dbSNPEnsembl.1
Natural variantiVAR_003175129A → T in Baskent. 1 PublicationCorresponds to variant rs41330850dbSNPEnsembl.1
Natural variantiVAR_003177135V → M in Jiangsu. 1 PublicationCorresponds to variant rs35849660dbSNPEnsembl.1

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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1I3DX-ray1.70A/B2-147[»]
1I3EX-ray1.86A/B2-147[»]
ProteinModelPortaliP69891.
SMRiP69891.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109297. 10 interactors.
IntActiP69891. 3 interactors.
STRINGi9606.ENSP00000338082.

PTM databases

iPTMnetiP69891.
PhosphoSitePlusiP69891.

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.
DisGeNETi3047.
GeneCardsiHBG1.
H-InvDBHIX0009388.
HGNCiHGNC:4831. HBG1.
HPAiHPA043234.
MalaCardsiHBG1.
MIMi142200. gene.
neXtProtiNX_P69891.
OpenTargetsiENSG00000196565.
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: November 2, 2016
This is version 137 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.