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Protein

Hemoglobin subunit delta

Gene

HBD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

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

Enzyme and pathway databases

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

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

EuPathDBiHostDB:ENSG00000223609.7
HGNCiHGNC:4829 HBD
MIMi142000 gene
neXtProtiNX_P02042

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

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
ProteomicsDBi51515
TopDownProteomicsiP02042

2D gel databases

REPRODUCTION-2DPAGEiIPI00473011
UCD-2DPAGEiP02042

PTM databases

iPTMnetiP02042
PhosphoSitePlusiP02042

Expressioni

Tissue specificityi

Red blood cells.

Gene expression databases

BgeeiENSG00000223609 Expressed in 133 organ(s), highest expression level in trabecular bone tissue
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

Protein-protein interaction databases

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

Structurei

Secondary structure

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

3D structure databases

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
OMAiIVIVMAH
OrthoDBiEOG091G0R7W
PhylomeDBiP02042
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

Sequence (1+)i

Sequence statusi: Complete.

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.iShow 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
Checksum:iF86BA4A09A57BB05
GO

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:
E9PEW8E9PEW8_HUMAN
Hemoglobin subunit delta
HBD
104Annotation score:
C9JRG0C9JRG0_HUMAN
Hemoglobin subunit delta
HBD
85Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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
ENST00000643122; ENSP00000494708; ENSG00000223609
GeneIDi3045
KEGGihsa:3045
UCSCiuc001maf.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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, 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
MaxQBiP02042
PaxDbiP02042
PeptideAtlasiP02042
PRIDEiP02042
ProteomicsDBi51515
TopDownProteomicsiP02042

Protocols and materials databases

DNASUi3045
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3045
DisGeNETi3045
EuPathDBiHostDB:ENSG00000223609.7
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
OMAiIVIVMAH
OrthoDBiEOG091G0R7W
PhylomeDBiP02042
TreeFamiTF333268

Enzyme and pathway databases

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

Miscellaneous databases

EvolutionaryTraceiP02042
GeneWikiiHBD
GenomeRNAii3045
PROiPR:P02042
SOURCEiSearch...

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
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: September 12, 2018
This is version 182 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
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Main funding by: National Institutes of Health

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