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P02042

- HBD_HUMAN

UniProt

P02042 - HBD_HUMAN

Protein

Hemoglobin subunit delta

Gene

HBD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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

    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 – 11Removed2 Publications
    Chaini2 – 147146Hemoglobin subunit deltaPRO_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

    1
    147
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP02042.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the globin family.PROSITE-ProRule annotation

    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

    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: October 1, 2014
    This is version 150 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