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Entry version 165 (16 Oct 2019)
Sequence version 2 (23 Jan 2007)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi64Iron (heme distal ligand)By similarity1
Metal bindingi93Iron (heme proximal ligand)Combined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

SIGNOR Signaling Network Open Resource

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SIGNORi
P69891

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HBG1
ORF Names:PRO2979
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4831 HBG1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
142200 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P69891

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3047

MalaCards human disease database

More...
MalaCardsi
HBG1

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
231237 Delta-beta-thalassemia
46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29206

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P69891

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HBG1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
56749860

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000532532 – 147Hemoglobin subunit gamma-1Add BLAST146

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P69891

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P69891

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P69891

PeptideAtlas

More...
PeptideAtlasi
P69891

PRoteomics IDEntifications database

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PRIDEi
P69891

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
57545

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P69891

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P69891

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Red blood cells.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By 5-azacytidine.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000213934 Expressed in 76 organ(s), highest expression level in adrenal tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P69891 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P69891 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043234

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109297, 12 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-2930 Hemoglobin Portland-1 Variant 1 complex
CPX-2932 Hemoglobin HbF Variant 1 complex
CPX-2934 Hemoglobin Bart's complex

Protein interaction database and analysis system

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IntActi
P69891, 3 interactors

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P69891

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P69891

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the globin family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3378 Eukaryota
COG1018 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162659

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000036868

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P69891

KEGG Orthology (KO)

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KOi
K13824

Database of Orthologous Groups

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OrthoDBi
1370439at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P69891

TreeFam database of animal gene trees

More...
TreeFami
TF333268

Family and domain databases

Conserved Domains Database

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CDDi
cd08925 Hb-beta_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.490.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000971 Globin
IPR009050 Globin-like_sf
IPR012292 Globin/Proto
IPR002337 Haemoglobin_b

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00042 Globin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00814 BETAHAEM

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46458 SSF46458, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01033 GLOBIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8FCDC3DA1B416DDE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0J9YYA3A0A0J9YYA3_HUMAN
Hemoglobin subunit gamma-1
HBG2 HBG1
30Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs33965337EnsemblClinVar.1
Natural variantiVAR_00315974D → N in Forest Park; associated with T-76. Corresponds to variant dbSNP:rs33965337EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs34435255EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs34127117EnsemblClinVar.1
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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS7754.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A90803 HGHUA

NCBI Reference Sequences

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RefSeqi
NP_000550.2, NM_000559.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000330597; ENSP00000327431; ENSG00000213934

Database of genes from NCBI RefSeq genomes

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GeneIDi
3047

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3047

UCSC genome browser

More...
UCSCi
uc001mah.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1I3DX-ray1.70A/B2-147[»]
1I3EX-ray1.86A/B2-147[»]
SMRiP69891
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109297, 12 interactors
ComplexPortaliCPX-2930 Hemoglobin Portland-1 Variant 1 complex
CPX-2932 Hemoglobin HbF Variant 1 complex
CPX-2934 Hemoglobin Bart's complex
IntActiP69891, 3 interactors

PTM databases

iPTMnetiP69891
PhosphoSitePlusiP69891

Polymorphism and mutation databases

BioMutaiHBG1
DMDMi56749860

Proteomic databases

jPOSTiP69891
MassIVEiP69891
MaxQBiP69891
PeptideAtlasiP69891
PRIDEiP69891
ProteomicsDBi57545

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
P69891

The DNASU plasmid repository

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DNASUi
3047

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3047
DisGeNETi3047

GeneCards: human genes, protein and diseases

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GeneCardsi
HBG1
HGNCiHGNC:4831 HBG1
HPAiHPA043234
MalaCardsiHBG1
MIMi142200 gene
neXtProtiNX_P69891
Orphaneti231237 Delta-beta-thalassemia
46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
PharmGKBiPA29206

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3378 Eukaryota
COG1018 LUCA
GeneTreeiENSGT00940000162659
HOGENOMiHOG000036868
InParanoidiP69891
KOiK13824
OrthoDBi1370439at2759
PhylomeDBiP69891
TreeFamiTF333268

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HBG1 human
EvolutionaryTraceiP69891

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3047
PharosiP69891

Protein Ontology

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PROi
PR:P69891

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000213934 Expressed in 76 organ(s), highest expression level in adrenal tissue
ExpressionAtlasiP69891 baseline and differential
GenevisibleiP69891 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHBG1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P69891
Secondary accession number(s): P02096
, P62027, Q549G1, Q8TDA1, Q96FH7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: October 16, 2019
This is version 165 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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