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Protein

Hemoglobin subunit delta

Gene

HBD

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

Involved in oxygen transport from the lung to the various peripheral tissues.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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

  • heme binding Source: GO_Central
  • hemoglobin alpha binding Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • organic acid binding Source: GO_Central
  • oxygen binding Source: GO_Central
  • oxygen carrier activity Source: GO_Central

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

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

SIGNOR Signaling Network Open Resource

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SIGNORi
P02042

<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 delta
Alternative name(s):
Delta-globin
Hemoglobin delta 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:HBD
<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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000223609.7

Human Gene Nomenclature Database

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HGNCi
HGNC:4829 HBD

Online Mendelian Inheritance in Man (OMIM)

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MIMi
142000 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P02042

<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; 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

Organism-specific databases

DisGeNET

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DisGeNETi
3045

MalaCards human disease database

More...
MalaCardsi
HBD

Open Targets

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OpenTargetsi
ENSG00000223609

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

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Orphaneti
231237 Delta-beta-thalassemia
330032 Hemoglobin Lepore-beta-thalassemia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29204

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HBD

<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 methionineiRemoved2 Publications
<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_00000531672 – 147Hemoglobin subunit deltaAdd 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-acetylalanine; in variant Niigata1 Publication1
Modified residuei51PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P02042

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P02042

MaxQB - The MaxQuant DataBase

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MaxQBi
P02042

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P02042

PeptideAtlas

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PeptideAtlasi
P02042

PRoteomics IDEntifications database

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PRIDEi
P02042

ProteomicsDB human proteome resource

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ProteomicsDBi
51515

Consortium for Top Down Proteomics

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TopDownProteomicsi
P02042

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00473011

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P02042

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P02042

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

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PhosphoSitePlusi
P02042

<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.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000223609 Expressed in 133 organ(s), highest expression level in trabecular bone tissue

CleanEx database of gene expression profiles

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CleanExi
HS_HBD

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P02042 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P02042 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB037087
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 delta chains in adult hemoglobin A2 (HbA2). HbA2 represents less than 3.5% of adult hemoglobin.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109295, 22 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-2419 Hemoglobin HbA2 complex

Protein interaction database and analysis system

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IntActi
P02042, 5 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000369654

<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

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
1SHRX-ray1.88B/D2-147[»]
1SI4X-ray2.20B/D2-147[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P02042

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

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SMRi
P02042

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P02042

<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

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eggNOGi
KOG3378 Eukaryota
COG1018 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000163476

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000036868

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG009709

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P02042

KEGG Orthology (KO)

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KOi
K16151

Identification of Orthologs from Complete Genome Data

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OMAi
IVIVMAH

Database of Orthologous Groups

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OrthoDBi
1370439at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P02042

TreeFam database of animal gene trees

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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

More...
PRINTSi
PR00814 BETAHAEM

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46458 SSF46458, 1 hit

PROSITE; a protein domain and family database

More...
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>.<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 3 potential isoforms that are computationally mapped.Show allAlign All

P02042-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS
60 70 80 90 100
SPDAVMGNPK VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD
110 120 130 140
PENFRLLGNV LVCVLARNFG KEFTPQMQAA YQKVVAGVAN ALAHKYH
Length:147
Mass (Da):16,055
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:iF86BA4A09A57BB05
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PFT6E9PFT6_HUMAN
Hemoglobin subunit delta
HBD
141Annotation score:

Annotation score:2 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>
E9PEW8E9PEW8_HUMAN
Hemoglobin subunit delta
HBD
104Annotation score:

Annotation score:2 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>
C9JRG0C9JRG0_HUMAN
Hemoglobin subunit delta
HBD
85Annotation 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_0030962V → A in Niigata. 1 PublicationCorresponds to variant dbSNP:rs34991152EnsemblClinVar.1
Natural variantiVAR_0304993H → L in Catania. 1 PublicationCorresponds to variant dbSNP:rs35433207EnsemblClinVar.1
Natural variantiVAR_0030973H → R in Sphakia. Corresponds to variant dbSNP:rs35433207EnsemblClinVar.1
Natural variantiVAR_0187405T → I1 PublicationCorresponds to variant dbSNP:rs35406175Ensembl.1
Natural variantiVAR_0187415T → S in haplotype T11; Kenya. 1 PublicationCorresponds to variant dbSNP:rs35406175Ensembl.1
Natural variantiVAR_03050011A → D in MUMC/Corleone. 2 Publications1
Natural variantiVAR_03050112V → G in Pylos. 1 PublicationCorresponds to variant dbSNP:rs34090605Ensembl.1
Natural variantiVAR_00309813N → K in NYU. 1 PublicationCorresponds to variant dbSNP:rs34313675EnsemblClinVar.1
Natural variantiVAR_00309917G → R in Delta'. 1 PublicationCorresponds to variant dbSNP:rs34012192EnsemblClinVar.1
Natural variantiVAR_00310021V → E in Roosevelt. 1 PublicationCorresponds to variant dbSNP:rs34093840EnsemblClinVar.1
Natural variantiVAR_00310123A → E in Flatbush. Corresponds to variant dbSNP:rs35395083EnsemblClinVar.1
Natural variantiVAR_00310225G → D in Victoria. 1 PublicationCorresponds to variant dbSNP:rs34460332EnsemblClinVar.1
Natural variantiVAR_00310326G → D in Yokoshima. 1 PublicationCorresponds to variant dbSNP:rs34389944EnsemblClinVar.1
Natural variantiVAR_00310427E → D in Puglia. 1 PublicationCorresponds to variant dbSNP:rs34289459EnsemblClinVar.1
Natural variantiVAR_00310528A → S in Yialousa. 2 PublicationsCorresponds to variant dbSNP:rs35152987EnsemblClinVar.1
Natural variantiVAR_03050237P → H in Metaponto. 1 PublicationCorresponds to variant dbSNP:rs34383555EnsemblClinVar.1
Natural variantiVAR_00310644E → G in Agrinio. 1 PublicationCorresponds to variant dbSNP:rs36084266EnsemblClinVar.1
Natural variantiVAR_00310744E → K in Melbourne. 1 PublicationCorresponds to variant dbSNP:rs35166721EnsemblClinVar.1
Natural variantiVAR_00310848D → V in Parkville. 1 PublicationCorresponds to variant dbSNP:rs34977235EnsemblClinVar.1
Natural variantiVAR_00310952P → R in Adria. Corresponds to variant dbSNP:rs34489183EnsemblClinVar.1
Natural variantiVAR_03050358N → K in Campania. 1 PublicationCorresponds to variant dbSNP:rs35666685EnsemblClinVar.1
Natural variantiVAR_00311070G → R in Indonesia. 1 PublicationCorresponds to variant dbSNP:rs35913713EnsemblClinVar.1
Natural variantiVAR_03050471A → G in Ventimiglia. 1 PublicationCorresponds to variant dbSNP:rs63750423Ensembl.1
Natural variantiVAR_00311176L → V in Grovetown. 1 PublicationCorresponds to variant dbSNP:rs34430836EnsemblClinVar.1
Natural variantiVAR_03050586F → S in Etolia. 1 PublicationCorresponds to variant dbSNP:rs35633566Ensembl.1
Natural variantiVAR_03050688Q → K in Montechiaro. 1 PublicationCorresponds to variant dbSNP:rs63750674Ensembl.1
Natural variantiVAR_03050789L → V in Lucania. 1 PublicationCorresponds to variant dbSNP:rs34933313EnsemblClinVar.1
Natural variantiVAR_00311291E → V in Honai. 1 PublicationCorresponds to variant dbSNP:rs34420481EnsemblClinVar.1
Natural variantiVAR_01427794C → G in Sant' Antioco. 1 PublicationCorresponds to variant dbSNP:rs28933077EnsemblClinVar.1
Natural variantiVAR_00311399V → M in Wrens; unstable. 1 PublicationCorresponds to variant dbSNP:rs28933076EnsemblClinVar.1
Natural variantiVAR_003114100D → N in Canada; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs35329985EnsemblClinVar.1
Natural variantiVAR_030508105R → S in Capri. 1 PublicationCorresponds to variant dbSNP:rs34390965EnsemblClinVar.1
Natural variantiVAR_003115117R → C in Corfu/Troodos. 3 PublicationsCorresponds to variant dbSNP:rs33971270EnsemblClinVar.1
Natural variantiVAR_003116117R → H in Coburg. 1 PublicationCorresponds to variant dbSNP:rs34536353EnsemblClinVar.1
Natural variantiVAR_003117118N → D in LiangCheng. Corresponds to variant dbSNP:rs36049174Ensembl.1
Natural variantiVAR_003118122E → V in Manzanares; unstable. 1 PublicationCorresponds to variant dbSNP:rs35790721EnsemblClinVar.1
Natural variantiVAR_003119126Q → E in Zagreb. 1 PublicationCorresponds to variant dbSNP:rs36078803EnsemblClinVar.1
Natural variantiVAR_030509134V → A in Ninive. 1 PublicationCorresponds to variant dbSNP:rs34802738EnsemblClinVar.1
Natural variantiVAR_003120137G → D in Babinga. 1 PublicationCorresponds to variant dbSNP:rs35849348EnsemblClinVar.1
Natural variantiVAR_030510141A → V in Bagheria. 1 PublicationCorresponds to variant dbSNP:rs63750461Ensembl.1
Natural variantiVAR_003121142L → P in Pelendri. 1 PublicationCorresponds to variant dbSNP:rs33956485EnsemblClinVar.1
Natural variantiVAR_003122143A → D in Fitzroy. 1 PublicationCorresponds to variant dbSNP:rs35848600EnsemblClinVar.1
Natural variantiVAR_014278147H → R in Monreale. 1 PublicationCorresponds to variant dbSNP:rs34149886EnsemblClinVar.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
U01317 Genomic DNA Translation: AAA16333.1
V00505 Genomic DNA Translation: CAA23763.1
AF339401 Genomic DNA Translation: AAL72102.1
AF339402 Genomic DNA Translation: AAL72103.1
AF339403 Genomic DNA Translation: AAL72104.1
AF339404 Genomic DNA Translation: AAL72105.1
AF339405 Genomic DNA Translation: AAL72106.1
AF339406 Genomic DNA Translation: AAL72107.1
AF339407 Genomic DNA Translation: AAL72108.1
AF339408 Genomic DNA Translation: AAL72109.1
AF339409 Genomic DNA Translation: AAL72110.1
AF339410 Genomic DNA Translation: AAL72111.1
AF339411 Genomic DNA Translation: AAL72112.1
AF339412 Genomic DNA Translation: AAL72113.1
AF339413 Genomic DNA Translation: AAL72114.1
AF339414 Genomic DNA Translation: AAL72115.1
AF339415 Genomic DNA Translation: AAL72116.1
AF339416 Genomic DNA Translation: AAL72117.1
AF339417 Genomic DNA Translation: AAL72118.1
AY034468 mRNA Translation: AAK68847.1
DQ157442 Genomic DNA Translation: AAZ83699.1
BC069307 mRNA Translation: AAH69307.1
BC070282 mRNA Translation: AAH70282.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31376.1

Protein sequence database of the Protein Information Resource

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PIRi
A90804 HDHU

NCBI Reference Sequences

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RefSeqi
NP_000510.1, NM_000519.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.699280

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000380299; ENSP00000369654; ENSG00000223609
ENST00000643122; ENSP00000494708; ENSG00000223609
ENST00000650601; ENSP00000497529; ENSG00000223609

Database of genes from NCBI RefSeq genomes

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GeneIDi
3045

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3045

UCSC genome browser

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UCSCi
uc001maf.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
U01317 Genomic DNA Translation: AAA16333.1
V00505 Genomic DNA Translation: CAA23763.1
AF339401 Genomic DNA Translation: AAL72102.1
AF339402 Genomic DNA Translation: AAL72103.1
AF339403 Genomic DNA Translation: AAL72104.1
AF339404 Genomic DNA Translation: AAL72105.1
AF339405 Genomic DNA Translation: AAL72106.1
AF339406 Genomic DNA Translation: AAL72107.1
AF339407 Genomic DNA Translation: AAL72108.1
AF339408 Genomic DNA Translation: AAL72109.1
AF339409 Genomic DNA Translation: AAL72110.1
AF339410 Genomic DNA Translation: AAL72111.1
AF339411 Genomic DNA Translation: AAL72112.1
AF339412 Genomic DNA Translation: AAL72113.1
AF339413 Genomic DNA Translation: AAL72114.1
AF339414 Genomic DNA Translation: AAL72115.1
AF339415 Genomic DNA Translation: AAL72116.1
AF339416 Genomic DNA Translation: AAL72117.1
AF339417 Genomic DNA Translation: AAL72118.1
AY034468 mRNA Translation: AAK68847.1
DQ157442 Genomic DNA Translation: AAZ83699.1
BC069307 mRNA Translation: AAH69307.1
BC070282 mRNA Translation: AAH70282.1
CCDSiCCDS31376.1
PIRiA90804 HDHU
RefSeqiNP_000510.1, NM_000519.3
UniGeneiHs.699280

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SHRX-ray1.88B/D2-147[»]
1SI4X-ray2.20B/D2-147[»]
ProteinModelPortaliP02042
SMRiP02042
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109295, 22 interactors
ComplexPortaliCPX-2419 Hemoglobin HbA2 complex
IntActiP02042, 5 interactors
STRINGi9606.ENSP00000369654

PTM databases

iPTMnetiP02042
PhosphoSitePlusiP02042

Polymorphism and mutation databases

BioMutaiHBD

2D gel databases

REPRODUCTION-2DPAGEiIPI00473011
UCD-2DPAGEiP02042

Proteomic databases

EPDiP02042
jPOSTiP02042
MaxQBiP02042
PaxDbiP02042
PeptideAtlasiP02042
PRIDEiP02042
ProteomicsDBi51515
TopDownProteomicsiP02042

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3045
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380299; ENSP00000369654; ENSG00000223609
ENST00000643122; ENSP00000494708; ENSG00000223609
ENST00000650601; ENSP00000497529; ENSG00000223609
GeneIDi3045
KEGGihsa:3045
UCSCiuc001maf.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3045
DisGeNETi3045
EuPathDBiHostDB:ENSG00000223609.7

GeneCards: human genes, protein and diseases

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GeneCardsi
HBD
HGNCiHGNC:4829 HBD
HPAiCAB037087
HPA043234
MalaCardsiHBD
MIMi142000 gene
neXtProtiNX_P02042
OpenTargetsiENSG00000223609
Orphaneti231237 Delta-beta-thalassemia
330032 Hemoglobin Lepore-beta-thalassemia syndrome
PharmGKBiPA29204

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3378 Eukaryota
COG1018 LUCA
GeneTreeiENSGT00940000163476
HOGENOMiHOG000036868
HOVERGENiHBG009709
InParanoidiP02042
KOiK16151
OMAiIVIVMAH
OrthoDBi1370439at2759
PhylomeDBiP02042
TreeFamiTF333268

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiP02042

Miscellaneous databases

EvolutionaryTraceiP02042

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HBD

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

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GenomeRNAii
3045

Protein Ontology

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PROi
PR:P02042

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000223609 Expressed in 133 organ(s), highest expression level in trabecular bone tissue
CleanExiHS_HBD
ExpressionAtlasiP02042 baseline and differential
GenevisibleiP02042 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
Search...

<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 nameiHBD_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: P02042
Secondary accession number(s): Q3Y5H3, Q8WXT7
<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: January 16, 2019
This is version 185 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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