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Protein

Hemoglobin subunit gamma-1

Gene

HBG1

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

Functioni

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

Caution

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

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

Keywordsi

Biological processOxygen transport, Transport
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiP69891

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

EuPathDBiHostDB:ENSG00000213934.6
HGNCiHGNC:4831 HBG1
MIMi142200 gene
neXtProtiNX_P69891

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3047
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)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 residuei13PhosphothreonineBy similarity1
Modified residuei45PhosphoserineCombined sources1
Modified residuei51PhosphoserineCombined sources1
Modified residuei53PhosphoserineCombined sources1
Modified residuei60N6-acetyllysineBy similarity1
Modified residuei83N6-acetyllysineBy similarity1
Modified residuei94S-nitrosocysteineBy similarity1
Modified residuei140PhosphoserineCombined sources1

Post-translational modificationi

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

Keywords - PTMi

Acetylation, Phosphoprotein, S-nitrosylation

Proteomic databases

EPDiP69891
MaxQBiP69891
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

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
HOGENOMiHOG000036868
HOVERGENiHBG009709
InParanoidiP69891
KOiK13824
OMAiSKLHCDK
OrthoDBiEOG091G0R7W
PhylomeDBiP69891
TreeFamiTF333268

Family and domain databases

CDDicd08925 Hb-beta_like, 1 hit
Gene3Di1.10.490.10, 1 hit
InterProiView protein in InterPro
IPR000971 Globin
IPR009050 Globin-like_sf
IPR012292 Globin/Proto
IPR002337 Haemoglobin_b
PfamiView protein in Pfam
PF00042 Globin, 1 hit
PRINTSiPR00814 BETAHAEM
SUPFAMiSSF46458 SSF46458, 1 hit
PROSITEiView protein in PROSITE
PS01033 GLOBIN, 1 hit

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 dbSNP:rs35315638EnsemblClinVar.1
Natural variantiVAR_0031256E → K in Texas-1. 1 PublicationCorresponds to variant dbSNP:rs34427034EnsemblClinVar.1
Natural variantiVAR_0031277E → G in Izumi/Kotobuki. 2 PublicationsCorresponds to variant dbSNP:rs34432567EnsemblClinVar.1
Natural variantiVAR_0031287E → Q in Pordenone. 1 PublicationCorresponds to variant dbSNP:rs33924825EnsemblClinVar.1
Natural variantiVAR_00313013T → R in Calluna. 1 PublicationCorresponds to variant dbSNP:rs33992775EnsemblClinVar.1
Natural variantiVAR_00313523D → G in Kuala Lumpur. 1 PublicationCorresponds to variant dbSNP:rs33970907EnsemblClinVar.1
Natural variantiVAR_00313826G → R in Xinjiang; unstable. 1 PublicationCorresponds to variant dbSNP:rs35957832EnsemblClinVar.1
Natural variantiVAR_00314137P → R in Pendergrass. 1 PublicationCorresponds to variant dbSNP:rs41404150EnsemblClinVar.1
Natural variantiVAR_00314238W → G in Cobb. 1 PublicationCorresponds to variant dbSNP:rs35700518EnsemblClinVar.1
Natural variantiVAR_00314340Q → R in Bonaire. 1 PublicationCorresponds to variant dbSNP:rs35977759EnsemblClinVar.1
Natural variantiVAR_00314541R → K in Woodstock. 1 PublicationCorresponds to variant dbSNP:rs33974602EnsemblClinVar.1
Natural variantiVAR_00314744D → N in Fukuyama. 1 PublicationCorresponds to variant dbSNP:rs41475844EnsemblClinVar.1
Natural variantiVAR_00314954A → D in Beech island. 1 PublicationCorresponds to variant dbSNP:rs35746147EnsemblClinVar.1
Natural variantiVAR_00315362K → E in Jamaica. 1 PublicationCorresponds to variant dbSNP:rs34747494EnsemblClinVar.1
Natural variantiVAR_00315873G → R in Iwata. 1 PublicationCorresponds to variant dbSNP:rs281860594EnsemblClinVar.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 dbSNP:rs1061234Ensembl.1
Natural variantiVAR_00316380D → N in Dammam. 1 Publication1
Natural variantiVAR_00316581D → N in Yamaguchi. 1 PublicationCorresponds to variant dbSNP:rs63751148EnsemblClinVar.1
Natural variantiVAR_00316481D → Y in Victoria jubilee. 1 PublicationCorresponds to variant dbSNP:rs63751148EnsemblClinVar.1
Natural variantiVAR_00316898H → R in Dickinson. 1 Publication1
Natural variantiVAR_003173122E → K in Siena/Hull. 2 PublicationsCorresponds to variant dbSNP:rs33963857EnsemblClinVar.1
Natural variantiVAR_003175129A → T in Baskent. 1 PublicationCorresponds to variant dbSNP:rs41330850EnsemblClinVar.1
Natural variantiVAR_003177135V → M in Jiangsu. 1 PublicationCorresponds to variant dbSNP:rs35849660EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiHBG1_HUMAN
AccessioniPrimary (citable) accession number: P69891
Secondary accession number(s): P02096
, P62027, Q549G1, Q8TDA1, Q96FH7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: May 23, 2018
This is version 152 of the entry and version 2 of the sequence. See 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

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

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