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Protein

Hemoglobin subunit delta

Gene

HBD

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

Functioni

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

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...

Keywordsi

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

Enzyme and pathway databases

BioCyciZFISH:G66-32669-MONOMER.
ReactomeiR-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Names & Taxonomyi

Protein namesi
Recommended name:
Hemoglobin subunit delta
Alternative name(s):
Delta-globin
Hemoglobin delta chain
Gene namesi
Name:HBD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:4829. HBD.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • cytosol Source: Reactome
  • hemoglobin complex Source: ProtInc

Pathology & Biotechi

Organism-specific databases

DisGeNETi3045.
MalaCardsiHBD.
OpenTargetsiENSG00000223609.
Orphaneti231237. Delta-beta-thalassemia.
330032. Hemoglobin Lepore - beta-thalassemia.
PharmGKBiPA29204.

Polymorphism and mutation databases

BioMutaiHBD.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved2 Publications
ChainiPRO_00000531672 – 147Hemoglobin subunit deltaAdd BLAST146

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine; in variant Niigata1 Publication1
Modified residuei51PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP02042.
MaxQBiP02042.
PaxDbiP02042.
PeptideAtlasiP02042.
PRIDEiP02042.
TopDownProteomicsiP02042.

2D gel databases

REPRODUCTION-2DPAGEIPI00473011.
UCD-2DPAGEP02042.

PTM databases

iPTMnetiP02042.
PhosphoSitePlusiP02042.

Expressioni

Tissue specificityi

Red blood cells.

Gene expression databases

BgeeiENSG00000223609.
CleanExiHS_HBD.
ExpressionAtlasiP02042. baseline and differential.
GenevisibleiP02042. HS.

Organism-specific databases

HPAiCAB037087.
HPA043234.

Interactioni

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi109295. 21 interactors.
IntActiP02042. 3 interactors.
STRINGi9606.ENSP00000369654.

Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi6 – 16Combined sources11
Turni21 – 23Combined sources3
Helixi24 – 35Combined sources12
Helixi37 – 46Combined sources10
Helixi52 – 56Combined sources5
Helixi59 – 77Combined sources19
Turni78 – 80Combined sources3
Helixi82 – 85Combined sources4
Helixi87 – 94Combined sources8
Helixi102 – 119Combined sources18
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
1SHRX-ray1.88B/D2-147[»]
1SI4X-ray2.20B/D2-147[»]
ProteinModelPortaliP02042.
SMRiP02042.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02042.

Family & Domainsi

Sequence similaritiesi

Belongs to the globin family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3378. Eukaryota.
COG1018. LUCA.
GeneTreeiENSGT00760000119197.
HOGENOMiHOG000036868.
HOVERGENiHBG009709.
InParanoidiP02042.
KOiK16151.
OMAiLAECITV.
OrthoDBiEOG091G0R7W.
PhylomeDBiP02042.
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.

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
Checksum:iF86BA4A09A57BB05
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0030962V → A in Niigata. Corresponds to variant dbSNP:rs349911521 PublicationEnsembl.1
Natural variantiVAR_0304993H → L in Catania. Corresponds to variant dbSNP:rs354332071 PublicationEnsembl.1
Natural variantiVAR_0030973H → R in Sphakia. Corresponds to variant dbSNP:rs35433207Ensembl.1
Natural variantiVAR_0187405T → I. Corresponds to variant dbSNP:rs354061751 PublicationEnsembl.1
Natural variantiVAR_0187415T → S in haplotype T11; Kenya. Corresponds to variant dbSNP:rs354061751 PublicationEnsembl.1
Natural variantiVAR_03050011A → D in MUMC/Corleone. 2 Publications1
Natural variantiVAR_03050112V → G in Pylos. Corresponds to variant dbSNP:rs340906051 PublicationEnsembl.1
Natural variantiVAR_00309813N → K in NYU. Corresponds to variant dbSNP:rs343136751 PublicationEnsembl.1
Natural variantiVAR_00309917G → R in Delta'. Corresponds to variant dbSNP:rs340121921 PublicationEnsembl.1
Natural variantiVAR_00310021V → E in Roosevelt. Corresponds to variant dbSNP:rs340938401 PublicationEnsembl.1
Natural variantiVAR_00310123A → E in Flatbush. Corresponds to variant dbSNP:rs35395083Ensembl.1
Natural variantiVAR_00310225G → D in Victoria. Corresponds to variant dbSNP:rs344603321 PublicationEnsembl.1
Natural variantiVAR_00310326G → D in Yokoshima. Corresponds to variant dbSNP:rs343899441 PublicationEnsembl.1
Natural variantiVAR_00310427E → D in Puglia. Corresponds to variant dbSNP:rs342894591 PublicationEnsembl.1
Natural variantiVAR_00310528A → S in Yialousa. Corresponds to variant dbSNP:rs351529872 PublicationsEnsembl.1
Natural variantiVAR_03050237P → H in Metaponto. Corresponds to variant dbSNP:rs343835551 PublicationEnsembl.1
Natural variantiVAR_00310644E → G in Agrinio. Corresponds to variant dbSNP:rs360842661 PublicationEnsembl.1
Natural variantiVAR_00310744E → K in Melbourne. Corresponds to variant dbSNP:rs351667211 PublicationEnsembl.1
Natural variantiVAR_00310848D → V in Parkville. Corresponds to variant dbSNP:rs349772351 PublicationEnsembl.1
Natural variantiVAR_00310952P → R in Adria. Corresponds to variant dbSNP:rs34489183Ensembl.1
Natural variantiVAR_03050358N → K in Campania. Corresponds to variant dbSNP:rs356666851 PublicationEnsembl.1
Natural variantiVAR_00311070G → R in Indonesia. Corresponds to variant dbSNP:rs359137131 PublicationEnsembl.1
Natural variantiVAR_03050471A → G in Ventimiglia. Corresponds to variant dbSNP:rs637504231 PublicationEnsembl.1
Natural variantiVAR_00311176L → V in Grovetown. Corresponds to variant dbSNP:rs344308361 PublicationEnsembl.1
Natural variantiVAR_03050586F → S in Etolia. Corresponds to variant dbSNP:rs356335661 PublicationEnsembl.1
Natural variantiVAR_03050688Q → K in Montechiaro. Corresponds to variant dbSNP:rs637506741 PublicationEnsembl.1
Natural variantiVAR_03050789L → V in Lucania. Corresponds to variant dbSNP:rs349333131 PublicationEnsembl.1
Natural variantiVAR_00311291E → V in Honai. Corresponds to variant dbSNP:rs344204811 PublicationEnsembl.1
Natural variantiVAR_01427794C → G in Sant' Antioco. Corresponds to variant dbSNP:rs289330771 PublicationEnsembl.1
Natural variantiVAR_00311399V → M in Wrens; unstable. Corresponds to variant dbSNP:rs289330761 PublicationEnsembl.1
Natural variantiVAR_003114100D → N in Canada; O(2) affinity up. Corresponds to variant dbSNP:rs353299851 PublicationEnsembl.1
Natural variantiVAR_030508105R → S in Capri. Corresponds to variant dbSNP:rs343909651 PublicationEnsembl.1
Natural variantiVAR_003115117R → C in Corfu/Troodos. Corresponds to variant dbSNP:rs339712703 PublicationsEnsembl.1
Natural variantiVAR_003116117R → H in Coburg. Corresponds to variant dbSNP:rs345363531 PublicationEnsembl.1
Natural variantiVAR_003117118N → D in LiangCheng. Corresponds to variant dbSNP:rs36049174Ensembl.1
Natural variantiVAR_003118122E → V in Manzanares; unstable. Corresponds to variant dbSNP:rs357907211 PublicationEnsembl.1
Natural variantiVAR_003119126Q → E in Zagreb. Corresponds to variant dbSNP:rs360788031 PublicationEnsembl.1
Natural variantiVAR_030509134V → A in Ninive. Corresponds to variant dbSNP:rs348027381 PublicationEnsembl.1
Natural variantiVAR_003120137G → D in Babinga. Corresponds to variant dbSNP:rs358493481 PublicationEnsembl.1
Natural variantiVAR_030510141A → V in Bagheria. Corresponds to variant dbSNP:rs637504611 PublicationEnsembl.1
Natural variantiVAR_003121142L → P in Pelendri. Corresponds to variant dbSNP:rs339564851 PublicationEnsembl.1
Natural variantiVAR_003122143A → D in Fitzroy. Corresponds to variant dbSNP:rs358486001 PublicationEnsembl.1
Natural variantiVAR_014278147H → R in Monreale. Corresponds to variant dbSNP:rs341498861 PublicationEnsembl.1

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.

Genome annotation databases

EnsembliENST00000380299; ENSP00000369654; ENSG00000223609.
GeneIDi3045.
KEGGihsa:3045.
UCSCiuc001maf.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
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. 21 interactors.
IntActiP02042. 3 interactors.
STRINGi9606.ENSP00000369654.

PTM databases

iPTMnetiP02042.
PhosphoSitePlusiP02042.

Polymorphism and mutation databases

BioMutaiHBD.

2D gel databases

REPRODUCTION-2DPAGEIPI00473011.
UCD-2DPAGEP02042.

Proteomic databases

EPDiP02042.
MaxQBiP02042.
PaxDbiP02042.
PeptideAtlasiP02042.
PRIDEiP02042.
TopDownProteomicsiP02042.

Protocols and materials databases

DNASUi3045.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380299; ENSP00000369654; ENSG00000223609.
GeneIDi3045.
KEGGihsa:3045.
UCSCiuc001maf.2. human.

Organism-specific databases

CTDi3045.
DisGeNETi3045.
GeneCardsiHBD.
HGNCiHGNC:4829. HBD.
HPAiCAB037087.
HPA043234.
MalaCardsiHBD.
MIMi142000. gene.
neXtProtiNX_P02042.
OpenTargetsiENSG00000223609.
Orphaneti231237. Delta-beta-thalassemia.
330032. Hemoglobin Lepore - beta-thalassemia.
PharmGKBiPA29204.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3378. Eukaryota.
COG1018. LUCA.
GeneTreeiENSGT00760000119197.
HOGENOMiHOG000036868.
HOVERGENiHBG009709.
InParanoidiP02042.
KOiK16151.
OMAiLAECITV.
OrthoDBiEOG091G0R7W.
PhylomeDBiP02042.
TreeFamiTF333268.

Enzyme and pathway databases

BioCyciZFISH:G66-32669-MONOMER.
ReactomeiR-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

EvolutionaryTraceiP02042.
GeneWikiiHBD.
GenomeRNAii3045.
PROiP02042.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000223609.
CleanExiHS_HBD.
ExpressionAtlasiP02042. baseline and differential.
GenevisibleiP02042. 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 nameiHBD_HUMAN
AccessioniPrimary (citable) accession number: P02042
Secondary accession number(s): Q3Y5H3, Q8WXT7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 169 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

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.