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P02042

- HBD_HUMAN

UniProt

P02042 - HBD_HUMAN

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Protein
Hemoglobin subunit delta
Gene
HBD
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi64 – 641Iron (heme distal ligand)
Metal bindingi93 – 931Iron (heme proximal ligand)

GO - Molecular functioni

  1. heme binding Source: InterPro
  2. iron ion binding Source: InterPro
  3. oxygen binding Source: InterPro
  4. oxygen transporter activity Source: UniProtKB-KW

GO - Biological processi

  1. blood coagulation Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Oxygen transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_24970. 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:4829. HBD.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. cytosol Source: Reactome
  3. hemoglobin complex Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

Orphaneti231237. Delta-beta-thalassemia.
330032. Hemoglobin Lepore - beta-thalassemia.
PharmGKBiPA29204.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 147146Hemoglobin subunit delta
PRO_0000053167Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine; in variant Niigata1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP02042.
PaxDbiP02042.
PeptideAtlasiP02042.
PRIDEiP02042.

2D gel databases

REPRODUCTION-2DPAGEIPI00473011.
UCD-2DPAGEP02042.

PTM databases

PhosphoSiteiP02042.

Expressioni

Tissue specificityi

Red blood cells.

Gene expression databases

ArrayExpressiP02042.
BgeeiP02042.
CleanExiHS_HBD.
GenevestigatoriP02042.

Organism-specific databases

HPAiCAB037087.

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

Protein-protein interaction databases

BioGridi109295. 1 interaction.
IntActiP02042. 1 interaction.
STRINGi9606.ENSP00000369654.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi6 – 1611
Turni21 – 233
Helixi24 – 3512
Helixi37 – 4610
Helixi52 – 565
Helixi59 – 7719
Turni78 – 803
Helixi82 – 854
Helixi87 – 948
Helixi102 – 11918
Helixi120 – 1223
Helixi125 – 14218
Helixi144 – 1463

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1SHRX-ray1.88B/D2-147[»]
1SI4X-ray2.20B/D2-147[»]
ProteinModelPortaliP02042.
SMRiP02042. Positions 2-147.

Miscellaneous databases

EvolutionaryTraceiP02042.

Family & Domainsi

Sequence similaritiesi

Belongs to the globin family.

Phylogenomic databases

eggNOGiNOG269316.
HOGENOMiHOG000036868.
HOVERGENiHBG009709.
InParanoidiP02042.
KOiK16151.
OMAiMIVIVMA.
PhylomeDBiP02042.
TreeFamiTF333268.

Family and domain databases

Gene3Di1.10.490.10. 1 hit.
InterProiIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
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

MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS    50
SPDAVMGNPK VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD 100
PENFRLLGNV LVCVLARNFG KEFTPQMQAA YQKVVAGVAN ALAHKYH 147
Length:147
Mass (Da):16,055
Last modified:January 23, 2007 - v2
Checksum:iF86BA4A09A57BB05
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21V → A in Niigata. 1 Publication
Corresponds to variant rs34991152 [ dbSNP | Ensembl ].
VAR_003096
Natural varianti3 – 31H → L in Catania. 1 Publication
VAR_030499
Natural varianti3 – 31H → R in Sphakia.
Corresponds to variant rs35433207 [ dbSNP | Ensembl ].
VAR_003097
Natural varianti5 – 51T → I.1 Publication
Corresponds to variant rs35406175 [ dbSNP | Ensembl ].
VAR_018740
Natural varianti5 – 51T → S in haplotype T11; Kenya. 1 Publication
Corresponds to variant rs35406175 [ dbSNP | Ensembl ].
VAR_018741
Natural varianti11 – 111A → D in MUMC/Corleone. 2 Publications
VAR_030500
Natural varianti12 – 121V → G in Pylos. 1 Publication
Corresponds to variant rs34090605 [ dbSNP | Ensembl ].
VAR_030501
Natural varianti13 – 131N → K in NYU. 1 Publication
Corresponds to variant rs34313675 [ dbSNP | Ensembl ].
VAR_003098
Natural varianti17 – 171G → R in Delta'. 1 Publication
Corresponds to variant rs34012192 [ dbSNP | Ensembl ].
VAR_003099
Natural varianti21 – 211V → E in Roosevelt. 1 Publication
Corresponds to variant rs34093840 [ dbSNP | Ensembl ].
VAR_003100
Natural varianti23 – 231A → E in Flatbush.
Corresponds to variant rs35395083 [ dbSNP | Ensembl ].
VAR_003101
Natural varianti25 – 251G → D in Victoria. 1 Publication
Corresponds to variant rs34460332 [ dbSNP | Ensembl ].
VAR_003102
Natural varianti26 – 261G → D in Yokoshima. 1 Publication
Corresponds to variant rs34389944 [ dbSNP | Ensembl ].
VAR_003103
Natural varianti27 – 271E → D in Puglia. 1 Publication
Corresponds to variant rs34289459 [ dbSNP | Ensembl ].
VAR_003104
Natural varianti28 – 281A → S in Yialousa. 2 Publications
Corresponds to variant rs35152987 [ dbSNP | Ensembl ].
VAR_003105
Natural varianti37 – 371P → H in Metaponto. 1 Publication
Corresponds to variant rs34383555 [ dbSNP | Ensembl ].
VAR_030502
Natural varianti44 – 441E → G in Agrinio. 1 Publication
Corresponds to variant rs36084266 [ dbSNP | Ensembl ].
VAR_003106
Natural varianti44 – 441E → K in Melbourne. 1 Publication
Corresponds to variant rs35166721 [ dbSNP | Ensembl ].
VAR_003107
Natural varianti48 – 481D → V in Parkville. 1 Publication
Corresponds to variant rs34977235 [ dbSNP | Ensembl ].
VAR_003108
Natural varianti52 – 521P → R in Adria.
Corresponds to variant rs34489183 [ dbSNP | Ensembl ].
VAR_003109
Natural varianti58 – 581N → K in Campania. 1 Publication
Corresponds to variant rs35666685 [ dbSNP | Ensembl ].
VAR_030503
Natural varianti70 – 701G → R in Indonesia. 1 Publication
Corresponds to variant rs35913713 [ dbSNP | Ensembl ].
VAR_003110
Natural varianti71 – 711A → G in Ventimiglia. 1 Publication
VAR_030504
Natural varianti76 – 761L → V in Grovetown. 1 Publication
Corresponds to variant rs34430836 [ dbSNP | Ensembl ].
VAR_003111
Natural varianti86 – 861F → S in Etolia. 1 Publication
Corresponds to variant rs35633566 [ dbSNP | Ensembl ].
VAR_030505
Natural varianti88 – 881Q → K in Montechiaro. 1 Publication
VAR_030506
Natural varianti89 – 891L → V in Lucania. 1 Publication
Corresponds to variant rs34933313 [ dbSNP | Ensembl ].
VAR_030507
Natural varianti91 – 911E → V in Honai. 1 Publication
Corresponds to variant rs34420481 [ dbSNP | Ensembl ].
VAR_003112
Natural varianti94 – 941C → G in Sant' Antioco. 1 Publication
Corresponds to variant rs28933077 [ dbSNP | Ensembl ].
VAR_014277
Natural varianti99 – 991V → M in Wrens; unstable. 1 Publication
Corresponds to variant rs28933076 [ dbSNP | Ensembl ].
VAR_003113
Natural varianti100 – 1001D → N in Canada; O(2) affinity up. 1 Publication
Corresponds to variant rs35329985 [ dbSNP | Ensembl ].
VAR_003114
Natural varianti105 – 1051R → S in Capri. 1 Publication
Corresponds to variant rs34390965 [ dbSNP | Ensembl ].
VAR_030508
Natural varianti117 – 1171R → C in Corfu/Troodos. 3 Publications
Corresponds to variant rs33971270 [ dbSNP | Ensembl ].
VAR_003115
Natural varianti117 – 1171R → H in Coburg. 1 Publication
Corresponds to variant rs34536353 [ dbSNP | Ensembl ].
VAR_003116
Natural varianti118 – 1181N → D in LiangCheng.
Corresponds to variant rs36049174 [ dbSNP | Ensembl ].
VAR_003117
Natural varianti122 – 1221E → V in Manzanares; unstable. 1 Publication
Corresponds to variant rs35790721 [ dbSNP | Ensembl ].
VAR_003118
Natural varianti126 – 1261Q → E in Zagreb. 1 Publication
Corresponds to variant rs36078803 [ dbSNP | Ensembl ].
VAR_003119
Natural varianti134 – 1341V → A in Ninive. 1 Publication
VAR_030509
Natural varianti137 – 1371G → D in Babinga. 1 Publication
Corresponds to variant rs35849348 [ dbSNP | Ensembl ].
VAR_003120
Natural varianti141 – 1411A → V in Bagheria. 1 Publication
VAR_030510
Natural varianti142 – 1421L → P in Pelendri. 1 Publication
VAR_003121
Natural varianti143 – 1431A → D in Fitzroy. 1 Publication
VAR_003122
Natural varianti147 – 1471H → R in Monreale. 1 Publication
VAR_014278

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

HbVar

Human hemoglobin variants and thalassemias

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS31376.1.
PIRi A90804. HDHU.
RefSeqi NP_000510.1. NM_000519.3.
UniGenei Hs.699280.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1SHR X-ray 1.88 B/D 2-147 [» ]
1SI4 X-ray 2.20 B/D 2-147 [» ]
ProteinModelPortali P02042.
SMRi P02042. Positions 2-147.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109295. 1 interaction.
IntActi P02042. 1 interaction.
STRINGi 9606.ENSP00000369654.

PTM databases

PhosphoSitei P02042.

2D gel databases

REPRODUCTION-2DPAGE IPI00473011.
UCD-2DPAGE P02042.

Proteomic databases

MaxQBi P02042.
PaxDbi P02042.
PeptideAtlasi P02042.
PRIDEi P02042.

Protocols and materials databases

DNASUi 3045.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000380299 ; ENSP00000369654 ; ENSG00000223609 .
GeneIDi 3045.
KEGGi hsa:3045.
UCSCi uc001maf.1. human.

Organism-specific databases

CTDi 3045.
GeneCardsi GC11M005253.
HGNCi HGNC:4829. HBD.
HPAi CAB037087.
MIMi 142000. gene.
neXtProti NX_P02042.
Orphaneti 231237. Delta-beta-thalassemia.
330032. Hemoglobin Lepore - beta-thalassemia.
PharmGKBi PA29204.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG269316.
HOGENOMi HOG000036868.
HOVERGENi HBG009709.
InParanoidi P02042.
KOi K16151.
OMAi MIVIVMA.
PhylomeDBi P02042.
TreeFami TF333268.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

ChiTaRSi HBD. human.
EvolutionaryTracei P02042.
GeneWikii HBD.
GenomeRNAii 3045.
NextBioi 12055.
PROi P02042.
SOURCEi Search...

Gene expression databases

ArrayExpressi P02042.
Bgeei P02042.
CleanExi HS_HBD.
Genevestigatori P02042.

Family and domain databases

Gene3Di 1.10.490.10. 1 hit.
InterProi IPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
IPR002337. Haemoglobin_b.
[Graphical view ]
Pfami PF00042. Globin. 1 hit.
[Graphical view ]
PRINTSi PR00814. BETAHAEM.
SUPFAMi SSF46458. SSF46458. 1 hit.
PROSITEi PS01033. GLOBIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete nucleotide sequence of the human delta-globin gene."
    Spritz R.A., Deriel J.K., Forget B.G., Weissman S.M.
    Cell 21:639-646(1980) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Heterogeneous patterns of sequence variation in the human beta-globin gene cluster."
    Webster M.T., Harding R.M., Wells R.S., Clegg J.B.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-5.
  3. "Alternate delta globin transcript."
    Lee T., Gubin A., Miller J.L.
    Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in an Iranian family."
    Eram S.M., Azimifar S.B., Abolghassemi H., Foulady P., Lotfi V., Masroury M., Hosseini M., Abdolhosseini A.
    Hemoglobin 29:289-292(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TROODOS CYS-117.
    Tissue: Blood.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Blood.
  6. "Hemoglobins, XXIII. Note on the sequence of the delta-chains of human hemoglobin."
    Braunitzer G., Schrank B., Stangl A., Grillemeier M.
    Hoppe-Seyler's Z. Physiol. Chem. 359:777-783(1978) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-147, CLEAVAGE OF INITIATOR METHIONINE.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb."
    Sen U., Dasgupta J., Choudhury D., Datta P., Chakrabarti A., Chakrabarty S.B., Chakrabarty A., Dattagupta J.K.
    Biochemistry 43:12477-12488(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.88 ANGSTROMS) IN COMPLEX WITH HEME AND HBA, SUBUNIT.
  9. Cited for: VARIANT DELTA' ARG-17.
  10. "Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant."
    de Jong W.W.W., Bernini L.F.
    Nature 219:1360-1362(1968) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BABINGA ASP-137.
  11. "Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 Lys."
    Ranney H.M., Jacobs A.S., Ramot B., Bradley T.B. Jr.
    J. Clin. Invest. 48:2057-2062(1969) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NYU LYS-13.
  12. "Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly-->Arg."
    Lie-Injo L.E., Pribadi W., Westendorp-Boerma F., Efremov G.D., Wilson J.B., Reynolds C.A., Huisman T.H.J.
    Biochim. Biophys. Acta 229:335-342(1971) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT INDONESIA ARG-70.
  13. "A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2)."
    Sharma R.S., Harding D.L., Wong S.D., Wilson J.B., Gravely M.E., Huisman T.H.J.
    Biochim. Biophys. Acta 359:233-235(1974) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MELBOURNE LYS-44.
  14. "Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18)."
    Sharma R.S., Williams L., Wilson J.B., Huisman T.H.J.
    Biochim. Biophys. Acta 393:379-382(1975) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT COBURG HIS-117.
  15. "Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu."
    Rieder R.F., Clegg J.B., Weiss H.J., Christy N.P., Rabinowitz R.
    Biochim. Biophys. Acta 439:501-504(1976) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ROOSEVELT GLU-21.
  16. "Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia."
    Salkie M.L., Gordon P.A., Rigal W.M., Lam H., Wilson J.B., Headlee M.E., Huisman T.H.J.
    Hemoglobin 6:223-231(1982) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CANADA ASN-100.
  17. "Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family."
    Romero Garcia C., Navarro J.L., Lam H., Webber B.B., Headlee M.G., Wilson J.B., Huisman T.H.J.
    Hemoglobin 7:435-442(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MANZANARES VAL-122.
  18. "Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia."
    Juricic D., Crepinko I., Efremov G.D., Lam H., Webber B.B., Headlee M.G., Huisman T.H.J.
    Hemoglobin 7:443-448(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ZAGREB GLU-126.
  19. "HbA2 Victoria delta 24 (B6) Gly-->Asp. A new delta chain variant occurring with beta-thalassemia."
    Brennan S.O., Williamson D., Smith M.B., Cauchi M.N., Macphee A., Carrell R.W.
    Hemoglobin 8:163-168(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VICTORIA ASP-25.
  20. "Hemoglobin A2 Fitzroy delta 142 Ala-->Asp: a new delta-chain variant."
    Williamson D., Brennan S.O., Strosberg H., Whitty J., Carrell R.W.
    Hemoglobin 8:325-332(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FITZROY ASP-143.
  21. "Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu-->Val): a new delta chain variant."
    Fujita S., Ohta Y., Saito S., Kobayashi Y., Naritomi Y., Kawaguchi T., Imamura T., Wada Y., Hayashi A.
    Hemoglobin 9:597-607(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HONAI VAL-91.
  22. "Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly-->Asp, a new delta chain variant found in a Japanese family."
    Ohba Y., Igarashi M., Tsukahara M., Nakashima M., Sanada C., Ami M., Arai Y., Miyaji T.
    Hemoglobin 9:613-615(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT YOKOSHIMA ASP-26.
  23. "Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val-->Met, an unstable delta chain variant identified by sequence analysis of amplified DNA."
    Codrington J.F., Kutlar F., Harris H.F., Wilson J.B., Stoming T.A., Huisman T.H.J.
    Biochim. Biophys. Acta 1009:87-89(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WRENS MET-99.
  24. "Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis."
    Trifillis P., Ioannou P., Schwartz E., Surrey S.
    Blood 78:3298-3305(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS YIALOUSA SER-28; CORFU CYS-117 AND PELENDRI PRO-142.
  25. "Hb A2-Niigata [delta 1(NA1)Val-->Ala]: a new delta chain variant found in the Japanese population."
    Harano T., Harano K., Kushida Y., Ueda S., Kawakami H.
    Hemoglobin 15:335-339(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NIIGATA ALA-2, ACETYLATION AT ALA-2 (VARIANT NIIGATA).
  26. "Hb A2-Parkville or delta 47(CD6)Asp-->Val, a new delta chain variant."
    Leung H., Gilbert A.T., Fleming P.J., Wong J., Hughes W.G., Hussein S., Nash A.R.
    Hemoglobin 15:407-416(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PARKVILLE VAL-48.
  27. "A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg-->Cys (G18), detected by delta-globin gene analysis in a Greek family."
    Loudianos G., Murru S., Kanavakis E., Metaxotou-Mavromati A., Theodoropoulou D., Kattamis C., Cao A., Pirastu M.
    Hum. Genet. 87:237-238(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CORFU CYS-117.
  28. "Analysis of delta-globin gene mutations in Greek cypriots."
    Trifillis P., Kyrri A., Kalogirou E., Kokkofitou A., Ioannou P., Schwartz E., Surrey S.
    Blood 82:1647-1651(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-5 AND YIALOUSA SER-28.
  29. "Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val."
    Molchanova T.P., Postnikov Y.V., Gu L.-H., Huisman T.H.J.
    Hemoglobin 17:289-291(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GROVETOWN VAL-76.
  30. "A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin."
    Loudianos G., Porcu S., Cossu P., Tannoia N., Vitucci A., Campanale D., Cao A., Pirastu M.
    Hum. Mutat. 2:327-329(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PUGLIA ASP-27.
  31. "Hb A2-Sant' Antioco alpha 2 delta (2)93(F9)Cys-->Gly: a new delta chain variant identified by sequencing of amplified DNA."
    Galanello R., Gasperini D., Perseu L., Barella S., Ideo A., Cao A.
    Hemoglobin 18:437-439(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SANT' ANTIOCO GLY-94.
  32. "Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family."
    Papadakis M., Drakoulakou O., Papapanagiotou E., Pessini D., Loutradi-Anagnostou A.
    Hemoglobin 19:295-299(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AGRINIO GLY-44.
  33. "Delta-thalassemic phenotype due to two 'novel' delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]."
    Drakoulakou O., Papapanagiotou E., Loutradi-Anagnostou A., Papadakis M.
    Hum. Mutat. 9:344-347(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PYLOS GLY-12 AND ETOLIA SER-86.
  34. "Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant detected in west Sicily."
    De Angioletti M., Di Girgenti C., Messineo R., Capra M., Carestia C.
    Hemoglobin 26:1-5(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MONREALE ARG-147.
  35. "Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features."
    De Angioletti M., Lacerra G., Gaudiano C., Mastrolonardo G., Pagano L., Mastrullo L., Masciandaro S., Carestia C.
    Hum. Mutat. 20:358-367(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS METAPONTO HIS-37; CAMPANIA LYS-58; LUCANIA VAL-89 AND CAPRI SER-105.
  36. "Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A-->G)] in the TATA box of the delta-globin gene."
    Frischknecht H., Dutly F.
    Hemoglobin 29:151-154(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NINIVE ALA-134.
  37. "Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]."
    Walker L., Patterson M., Eng B., McFarlane A., Waye J.S.
    Hemoglobin 29:285-287(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MUMC/CORLEONE ASP-11.
  38. "Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations."
    Giambona A., Passarello C., Ruggeri G., Renda D., Teresi P., Anza M., Maggio A.
    Haematologica 91:1681-1684(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CATANIA LEU-3; MUMC/CORLEONE ASP-11; VENTIMIGLIA GLY-71; MONTECHIARO LYS-88 AND BAGHERIA VAL-141.

Entry informationi

Entry nameiHBD_HUMAN
AccessioniPrimary (citable) accession number: P02042
Secondary accession number(s): Q3Y5H3, Q8WXT7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 149 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

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