HBD_HUMAN
ID HBD_HUMAN Reviewed; 147 AA.
AC P02042; Q3Y5H3; Q8WXT7;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 205.
DE RecName: Full=Hemoglobin subunit delta;
DE AltName: Full=Delta-globin;
DE AltName: Full=Hemoglobin delta chain;
GN Name=HBD;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=7438204; DOI=10.1016/0092-8674(80)90427-4;
RA Spritz R.A., Deriel J.K., Forget B.G., Weissman S.M.;
RT "Complete nucleotide sequence of the human delta-globin gene.";
RL Cell 21:639-646(1980).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT SER-5.
RA Webster M.T., Harding R.M., Wells R.S., Clegg J.B.;
RT "Heterogeneous patterns of sequence variation in the human beta-globin gene
RT cluster.";
RL Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Lee T., Gubin A., Miller J.L.;
RT "Alternate delta globin transcript.";
RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT TROODOS CYS-117.
RC TISSUE=Blood;
RX PubMed=16370491; DOI=10.1080/03630260500310828;
RA Eram S.M., Azimifar S.B., Abolghassemi H., Foulady P., Lotfi V.,
RA Masroury M., Hosseini M., Abdolhosseini A.;
RT "The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos
RT [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in
RT an Iranian family.";
RL Hemoglobin 29:289-292(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Blood;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PROTEIN SEQUENCE OF 2-147, AND CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=680638;
RA Braunitzer G., Schrank B., Stangl A., Grillemeier M.;
RT "Hemoglobins, XXIII. Note on the sequence of the delta-chains of human
RT hemoglobin.";
RL Hoppe-Seyler's Z. Physiol. Chem. 359:777-783(1978).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-51, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [9]
RP X-RAY CRYSTALLOGRAPHY (1.88 ANGSTROMS) IN COMPLEX WITH HEME AND HBA, AND
RP SUBUNIT.
RX PubMed=15449937; DOI=10.1021/bi048903i;
RA Sen U., Dasgupta J., Choudhury D., Datta P., Chakrabarti A.,
RA Chakrabarty S.B., Chakrabarty A., Dattagupta J.K.;
RT "Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4:
RT interpretation of the thermal stability and the antisickling effect of HbA2
RT and identification of the ferrocyanide binding site in Hb.";
RL Biochemistry 43:12477-12488(2004).
RN [10]
RP VARIANT DELTA' ARG-17.
RX PubMed=5956309; DOI=10.1038/2091217a0;
RA Ball E.W., Meynell M.J., Beale D., Kynoch P., Lehmann H., Strelton A.O.W.;
RT "Haemoglobin A2: alpha-2-delta-2-16 glycine-->arginine.";
RL Nature 209:1217-1218(1966).
RN [11]
RP VARIANT BABINGA ASP-137.
RX PubMed=5678016; DOI=10.1038/2191360a0;
RA de Jong W.W.W., Bernini L.F.;
RT "Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain
RT variant.";
RL Nature 219:1360-1362(1968).
RN [12]
RP VARIANT NYU LYS-13.
RX PubMed=5824070; DOI=10.1172/jci106171;
RA Ranney H.M., Jacobs A.S., Ramot B., Bradley T.B. Jr.;
RT "Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 Lys.";
RL J. Clin. Invest. 48:2057-2062(1969).
RN [13]
RP VARIANT INDONESIA ARG-70.
RX PubMed=4995018; DOI=10.1016/0005-2795(71)90192-9;
RA Lie-Injo L.E., Pribadi W., Westendorp-Boerma F., Efremov G.D., Wilson J.B.,
RA Reynolds C.A., Huisman T.H.J.;
RT "Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly-->Arg.";
RL Biochim. Biophys. Acta 229:335-342(1971).
RN [14]
RP VARIANT MELBOURNE LYS-44.
RX PubMed=4850239; DOI=10.1016/0005-2795(74)90218-9;
RA Sharma R.S., Harding D.L., Wong S.D., Wilson J.B., Gravely M.E.,
RA Huisman T.H.J.;
RT "A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2
RT 43Glu-Lys(CD2).";
RL Biochim. Biophys. Acta 359:233-235(1974).
RN [15]
RP VARIANT COBURG HIS-117.
RX PubMed=1148221; DOI=10.1016/0005-2795(75)90065-3;
RA Sharma R.S., Williams L., Wilson J.B., Huisman T.H.J.;
RT "Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).";
RL Biochim. Biophys. Acta 393:379-382(1975).
RN [16]
RP VARIANT ROOSEVELT GLU-21.
RX PubMed=952968; DOI=10.1016/0005-2795(76)90089-1;
RA Rieder R.F., Clegg J.B., Weiss H.J., Christy N.P., Rabinowitz R.;
RT "Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu.";
RL Biochim. Biophys. Acta 439:501-504(1976).
RN [17]
RP VARIANT CANADA ASN-100.
RX PubMed=7129931; DOI=10.3109/03630268208991698;
RA Salkie M.L., Gordon P.A., Rigal W.M., Lam H., Wilson J.B., Headlee M.E.,
RA Huisman T.H.J.;
RT "Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly
RT discovered delta chain variant with increased oxygen affinity occurring in
RT cis to beta-thalassemia.";
RL Hemoglobin 6:223-231(1982).
RN [18]
RP VARIANT MANZANARES VAL-122.
RX PubMed=6629825; DOI=10.3109/03630268309038412;
RA Romero Garcia C., Navarro J.L., Lam H., Webber B.B., Headlee M.G.,
RA Wilson J.B., Huisman T.H.J.;
RT "Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an
RT unstable delta chain variant observed in a Spanish family.";
RL Hemoglobin 7:435-442(1983).
RN [19]
RP VARIANT ZAGREB GLU-126.
RX PubMed=6629826; DOI=10.3109/03630268309038413;
RA Juricic D., Crepinko I., Efremov G.D., Lam H., Webber B.B., Headlee M.G.,
RA Huisman T.H.J.;
RT "Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta
RT chain variant in association with delta beta-thalassemia.";
RL Hemoglobin 7:443-448(1983).
RN [20]
RP VARIANT VICTORIA ASP-25.
RX PubMed=6469695; DOI=10.3109/03630268408991709;
RA Brennan S.O., Williamson D., Smith M.B., Cauchi M.N., Macphee A.,
RA Carrell R.W.;
RT "HbA2 Victoria delta 24 (B6) Gly-->Asp. A new delta chain variant occurring
RT with beta-thalassemia.";
RL Hemoglobin 8:163-168(1984).
RN [21]
RP VARIANT FITZROY ASP-143.
RX PubMed=6548205; DOI=10.3109/03630268408991715;
RA Williamson D., Brennan S.O., Strosberg H., Whitty J., Carrell R.W.;
RT "Hemoglobin A2 Fitzroy delta 142 Ala-->Asp: a new delta-chain variant.";
RL Hemoglobin 8:325-332(1984).
RN [22]
RP VARIANT HONAI VAL-91.
RX PubMed=2869009; DOI=10.3109/03630268508997040;
RA Fujita S., Ohta Y., Saito S., Kobayashi Y., Naritomi Y., Kawaguchi T.,
RA Imamura T., Wada Y., Hayashi A.;
RT "Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu-->Val): a new delta chain
RT variant.";
RL Hemoglobin 9:597-607(1985).
RN [23]
RP VARIANT YOKOSHIMA ASP-26.
RX PubMed=3841531; DOI=10.3109/03630268508997042;
RA Ohba Y., Igarashi M., Tsukahara M., Nakashima M., Sanada C., Ami M.,
RA Arai Y., Miyaji T.;
RT "Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly-->Asp, a new delta chain
RT variant found in a Japanese family.";
RL Hemoglobin 9:613-615(1985).
RN [24]
RP VARIANT WRENS MET-99.
RX PubMed=2477064; DOI=10.1016/0167-4781(89)90083-3;
RA Codrington J.F., Kutlar F., Harris H.F., Wilson J.B., Stoming T.A.,
RA Huisman T.H.J.;
RT "Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val-->Met, an unstable delta chain
RT variant identified by sequence analysis of amplified DNA.";
RL Biochim. Biophys. Acta 1009:87-89(1989).
RN [25]
RP VARIANT YIALOUSA SER-28, VARIANT CORFU CYS-117, AND VARIANT PELENDRI
RP PRO-142.
RX PubMed=1742490;
RA Trifillis P., Ioannou P., Schwartz E., Surrey S.;
RT "Identification of four novel delta-globin gene mutations in Greek Cypriots
RT using polymerase chain reaction and automated fluorescence-based DNA
RT sequence analysis.";
RL Blood 78:3298-3305(1991).
RN [26]
RP VARIANT NIIGATA ALA-2, AND ACETYLATION AT ALA-2 (VARIANT NIIGATA).
RX PubMed=1787103; DOI=10.3109/03630269109027889;
RA Harano T., Harano K., Kushida Y., Ueda S., Kawakami H.;
RT "Hb A2-Niigata [delta 1(NA1)Val-->Ala]: a new delta chain variant found in
RT the Japanese population.";
RL Hemoglobin 15:335-339(1991).
RN [27]
RP VARIANT PARKVILLE VAL-48.
RX PubMed=1802883; DOI=10.3109/03630269108998860;
RA Leung H., Gilbert A.T., Fleming P.J., Wong J., Hughes W.G., Hussein S.,
RA Nash A.R.;
RT "Hb A2-Parkville or delta 47(CD6)Asp-->Val, a new delta chain variant.";
RL Hemoglobin 15:407-416(1991).
RN [28]
RP VARIANT CORFU CYS-117.
RX PubMed=2066116; DOI=10.1007/bf00204193;
RA Loudianos G., Murru S., Kanavakis E., Metaxotou-Mavromati A.,
RA Theodoropoulou D., Kattamis C., Cao A., Pirastu M.;
RT "A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116
RT Arg-->Cys (G18), detected by delta-globin gene analysis in a Greek
RT family.";
RL Hum. Genet. 87:237-238(1991).
RN [29]
RP VARIANT ILE-5, AND VARIANT YIALOUSA SER-28.
RX PubMed=8364213;
RA Trifillis P., Kyrri A., Kalogirou E., Kokkofitou A., Ioannou P.,
RA Schwartz E., Surrey S.;
RT "Analysis of delta-globin gene mutations in Greek cypriots.";
RL Blood 82:1647-1651(1993).
RN [30]
RP VARIANT GROVETOWN VAL-76.
RX PubMed=8330984; DOI=10.3109/03630269308998907;
RA Molchanova T.P., Postnikov Y.V., Gu L.-H., Huisman T.H.J.;
RT "Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.";
RL Hemoglobin 17:289-291(1993).
RN [31]
RP VARIANT PUGLIA ASP-27.
RX PubMed=8401543; DOI=10.1002/humu.1380020417;
RA Loudianos G., Porcu S., Cossu P., Tannoia N., Vitucci A., Campanale D.,
RA Cao A., Pirastu M.;
RT "A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26
RT Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian
RT origin.";
RL Hum. Mutat. 2:327-329(1993).
RN [32]
RP VARIANT SANT' ANTIOCO GLY-94.
RX PubMed=7713748; DOI=10.3109/03630269409045776;
RA Galanello R., Gasperini D., Perseu L., Barella S., Ideo A., Cao A.;
RT "Hb A2-Sant' Antioco alpha 2 delta (2)93(F9)Cys-->Gly: a new delta chain
RT variant identified by sequencing of amplified DNA.";
RL Hemoglobin 18:437-439(1994).
RN [33]
RP VARIANT AGRINIO GLY-44.
RX PubMed=8537235; DOI=10.3109/03630269509005818;
RA Papadakis M., Drakoulakou O., Papapanagiotou E., Pessini D.,
RA Loutradi-Anagnostou A.;
RT "Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain
RT variant detected in a Greek family.";
RL Hemoglobin 19:295-299(1995).
RN [34]
RP VARIANT PYLOS GLY-12, AND VARIANT ETOLIA SER-86.
RX PubMed=9101295;
RX DOI=10.1002/(sici)1098-1004(1997)9:4<344::aid-humu7>3.0.co;2-5;
RA Drakoulakou O., Papapanagiotou E., Loutradi-Anagnostou A., Papadakis M.;
RT "Delta-thalassemic phenotype due to two 'novel' delta-globin gene
RT mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-
RT Etolia].";
RL Hum. Mutat. 9:344-347(1997).
RN [35]
RP VARIANT MONREALE ARG-147.
RX PubMed=11939506; DOI=10.1081/hem-120002934;
RA De Angioletti M., Di Girgenti C., Messineo R., Capra M., Carestia C.;
RT "Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant
RT detected in west Sicily.";
RL Hemoglobin 26:1-5(2002).
RN [36]
RP VARIANT METAPONTO HIS-37, VARIANT CAMPANIA LYS-58, VARIANT LUCANIA VAL-89,
RP AND VARIANT CAPRI SER-105.
RX PubMed=12402333; DOI=10.1002/humu.10132;
RA De Angioletti M., Lacerra G., Gaudiano C., Mastrolonardo G., Pagano L.,
RA Mastrullo L., Masciandaro S., Carestia C.;
RT "Epidemiology of the delta globin alleles in southern Italy shows complex
RT molecular, genetic, and phenotypic features.";
RL Hum. Mutat. 20:358-367(2002).
RN [37]
RP VARIANT NINIVE ALA-134.
RX PubMed=15921167; DOI=10.1081/hem-58593;
RA Frischknecht H., Dutly F.;
RT "Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a
RT delta(+)-thalassemia mutation [-31 (A-->G)] in the TATA box of the delta-
RT globin gene.";
RL Hemoglobin 29:151-154(2005).
RN [38]
RP VARIANT MUMC/CORLEONE ASP-11.
RX PubMed=16370490; DOI=10.1080/03630260500310794;
RA Walker L., Patterson M., Eng B., McFarlane A., Waye J.S.;
RT "Identification of a new delta chain hemoglobin variant in a beta-
RT thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].";
RL Hemoglobin 29:285-287(2005).
RN [39]
RP VARIANT CATANIA LEU-3, VARIANT MUMC/CORLEONE ASP-11, VARIANT VENTIMIGLIA
RP GLY-71, VARIANT MONTECHIARO LYS-88, AND VARIANT BAGHERIA VAL-141.
RX PubMed=17145605;
RA Giambona A., Passarello C., Ruggeri G., Renda D., Teresi P., Anza M.,
RA Maggio A.;
RT "Analysis of delta-globin gene alleles in the Sicilian population:
RT identification of five new mutations.";
RL Haematologica 91:1681-1684(2006).
CC -!- FUNCTION: Involved in oxygen transport from the lung to the various
CC peripheral tissues.
CC -!- SUBUNIT: Heterotetramer of two alpha chains and two delta chains in
CC adult hemoglobin A2 (HbA2). HbA2 represents less than 3.5% of adult
CC hemoglobin. {ECO:0000269|PubMed:15449937}.
CC -!- INTERACTION:
CC P02042; Q8TAB7: CCDC26; NbExp=3; IntAct=EBI-6152722, EBI-10271580;
CC P02042; P69905: HBA2; NbExp=3; IntAct=EBI-6152722, EBI-714680;
CC P02042; P09105: HBQ1; NbExp=6; IntAct=EBI-6152722, EBI-10193656;
CC P02042; P02008: HBZ; NbExp=8; IntAct=EBI-6152722, EBI-719843;
CC P02042; O00746: NME4; NbExp=3; IntAct=EBI-6152722, EBI-744871;
CC -!- TISSUE SPECIFICITY: Red blood cells.
CC -!- SIMILARITY: Belongs to the globin family. {ECO:0000255|PROSITE-
CC ProRule:PRU00238}.
CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and
CC thalassemias;
CC URL="https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBD";
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DR EMBL; U01317; AAA16333.1; -; Genomic_DNA.
DR EMBL; V00505; CAA23763.1; -; Genomic_DNA.
DR EMBL; AF339401; AAL72102.1; -; Genomic_DNA.
DR EMBL; AF339402; AAL72103.1; -; Genomic_DNA.
DR EMBL; AF339403; AAL72104.1; -; Genomic_DNA.
DR EMBL; AF339404; AAL72105.1; -; Genomic_DNA.
DR EMBL; AF339405; AAL72106.1; -; Genomic_DNA.
DR EMBL; AF339406; AAL72107.1; -; Genomic_DNA.
DR EMBL; AF339407; AAL72108.1; -; Genomic_DNA.
DR EMBL; AF339408; AAL72109.1; -; Genomic_DNA.
DR EMBL; AF339409; AAL72110.1; -; Genomic_DNA.
DR EMBL; AF339410; AAL72111.1; -; Genomic_DNA.
DR EMBL; AF339411; AAL72112.1; -; Genomic_DNA.
DR EMBL; AF339412; AAL72113.1; -; Genomic_DNA.
DR EMBL; AF339413; AAL72114.1; -; Genomic_DNA.
DR EMBL; AF339414; AAL72115.1; -; Genomic_DNA.
DR EMBL; AF339415; AAL72116.1; -; Genomic_DNA.
DR EMBL; AF339416; AAL72117.1; -; Genomic_DNA.
DR EMBL; AF339417; AAL72118.1; -; Genomic_DNA.
DR EMBL; AY034468; AAK68847.1; -; mRNA.
DR EMBL; DQ157442; AAZ83699.1; -; Genomic_DNA.
DR EMBL; BC069307; AAH69307.1; -; mRNA.
DR EMBL; BC070282; AAH70282.1; -; mRNA.
DR CCDS; CCDS31376.1; -.
DR PIR; A90804; HDHU.
DR RefSeq; NP_000510.1; NM_000519.3.
DR PDB; 1SHR; X-ray; 1.88 A; B/D=2-147.
DR PDB; 1SI4; X-ray; 2.20 A; B/D=2-147.
DR PDBsum; 1SHR; -.
DR PDBsum; 1SI4; -.
DR AlphaFoldDB; P02042; -.
DR SMR; P02042; -.
DR BioGRID; 109295; 78.
DR ComplexPortal; CPX-2419; Hemoglobin HbA2 complex.
DR IntAct; P02042; 11.
DR STRING; 9606.ENSP00000369654; -.
DR GlyGen; P02042; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P02042; -.
DR PhosphoSitePlus; P02042; -.
DR BioMuta; HBD; -.
DR REPRODUCTION-2DPAGE; IPI00473011; -.
DR UCD-2DPAGE; P02042; -.
DR jPOST; P02042; -.
DR MassIVE; P02042; -.
DR MaxQB; P02042; -.
DR PaxDb; P02042; -.
DR PeptideAtlas; P02042; -.
DR PRIDE; P02042; -.
DR ProteomicsDB; 51515; -.
DR TopDownProteomics; P02042; -.
DR Antibodypedia; 42203; 87 antibodies from 17 providers.
DR DNASU; 3045; -.
DR Ensembl; ENST00000643122.1; ENSP00000494708.1; ENSG00000223609.11.
DR Ensembl; ENST00000650601.1; ENSP00000497529.1; ENSG00000223609.11.
DR GeneID; 3045; -.
DR KEGG; hsa:3045; -.
DR MANE-Select; ENST00000650601.1; ENSP00000497529.1; NM_000519.4; NP_000510.1.
DR UCSC; uc001maf.2; human.
DR CTD; 3045; -.
DR DisGeNET; 3045; -.
DR GeneCards; HBD; -.
DR HGNC; HGNC:4829; HBD.
DR HPA; ENSG00000223609; Tissue enriched (bone).
DR MalaCards; HBD; -.
DR MIM; 142000; gene.
DR neXtProt; NX_P02042; -.
DR OpenTargets; ENSG00000223609; -.
DR Orphanet; 231237; Delta-beta-thalassemia.
DR Orphanet; 330032; Hemoglobin Lepore-beta-thalassemia syndrome.
DR PharmGKB; PA29204; -.
DR VEuPathDB; HostDB:ENSG00000223609; -.
DR eggNOG; KOG3378; Eukaryota.
DR GeneTree; ENSGT00940000163476; -.
DR HOGENOM; CLU_003827_10_0_1; -.
DR InParanoid; P02042; -.
DR OMA; PKALCRC; -.
DR OrthoDB; 1370439at2759; -.
DR PhylomeDB; P02042; -.
DR TreeFam; TF333268; -.
DR PathwayCommons; P02042; -.
DR Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
DR SignaLink; P02042; -.
DR SIGNOR; P02042; -.
DR BioGRID-ORCS; 3045; 6 hits in 1050 CRISPR screens.
DR ChiTaRS; HBD; human.
DR EvolutionaryTrace; P02042; -.
DR GeneWiki; HBD; -.
DR GenomeRNAi; 3045; -.
DR Pharos; P02042; Tbio.
DR PRO; PR:P02042; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; P02042; protein.
DR Bgee; ENSG00000223609; Expressed in trabecular bone tissue and 124 other tissues.
DR ExpressionAtlas; P02042; baseline and differential.
DR Genevisible; P02042; HS.
DR GO; GO:0072562; C:blood microparticle; HDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0031838; C:haptoglobin-hemoglobin complex; IBA:GO_Central.
DR GO; GO:0005833; C:hemoglobin complex; IPI:ComplexPortal.
DR GO; GO:0020037; F:heme binding; IBA:GO_Central.
DR GO; GO:0031721; F:hemoglobin alpha binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0043177; F:organic acid binding; IBA:GO_Central.
DR GO; GO:0019825; F:oxygen binding; IBA:GO_Central.
DR GO; GO:0005344; F:oxygen carrier activity; IBA:GO_Central.
DR GO; GO:0015670; P:carbon dioxide transport; IC:ComplexPortal.
DR GO; GO:0098869; P:cellular oxidant detoxification; IEA:GOC.
DR GO; GO:0042744; P:hydrogen peroxide catabolic process; IBA:GO_Central.
DR GO; GO:0015671; P:oxygen transport; IDA:ComplexPortal.
DR GO; GO:0010942; P:positive regulation of cell death; IC:ComplexPortal.
DR CDD; cd08925; Hb-beta-like; 1.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like_sf.
DR InterPro; IPR012292; Globin/Proto.
DR InterPro; IPR002337; Hemoglobin_b.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00814; BETAHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Direct protein sequencing; Heme; Iron;
KW Metal-binding; Oxygen transport; Phosphoprotein; Reference proteome;
KW Transport.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:1787103,
FT ECO:0000269|PubMed:680638"
FT CHAIN 2..147
FT /note="Hemoglobin subunit delta"
FT /id="PRO_0000053167"
FT BINDING 64
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="distal binding residue"
FT /evidence="ECO:0000250|UniProtKB:P80044"
FT BINDING 93
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="proximal binding residue"
FT /evidence="ECO:0000269|PubMed:15449937,
FT ECO:0007744|PDB:1SHR, ECO:0007744|PDB:1SI4"
FT MOD_RES 2
FT /note="N-acetylalanine; in variant Niigata"
FT /evidence="ECO:0000269|PubMed:1787103"
FT MOD_RES 51
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT VARIANT 2
FT /note="V -> A (in Niigata; dbSNP:rs34991152)"
FT /evidence="ECO:0000269|PubMed:1787103"
FT /id="VAR_003096"
FT VARIANT 3
FT /note="H -> L (in Catania; dbSNP:rs35433207)"
FT /evidence="ECO:0000269|PubMed:17145605"
FT /id="VAR_030499"
FT VARIANT 3
FT /note="H -> R (in Sphakia; dbSNP:rs35433207)"
FT /id="VAR_003097"
FT VARIANT 5
FT /note="T -> I (in dbSNP:rs35406175)"
FT /evidence="ECO:0000269|PubMed:8364213"
FT /id="VAR_018740"
FT VARIANT 5
FT /note="T -> S (in haplotype T11; Kenya; dbSNP:rs35406175)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_018741"
FT VARIANT 11
FT /note="A -> D (in MUMC/Corleone)"
FT /evidence="ECO:0000269|PubMed:16370490,
FT ECO:0000269|PubMed:17145605"
FT /id="VAR_030500"
FT VARIANT 12
FT /note="V -> G (in Pylos; dbSNP:rs34090605)"
FT /evidence="ECO:0000269|PubMed:9101295"
FT /id="VAR_030501"
FT VARIANT 13
FT /note="N -> K (in NYU; dbSNP:rs34313675)"
FT /evidence="ECO:0000269|PubMed:5824070"
FT /id="VAR_003098"
FT VARIANT 17
FT /note="G -> R (in Delta'; dbSNP:rs34012192)"
FT /evidence="ECO:0000269|PubMed:5956309"
FT /id="VAR_003099"
FT VARIANT 21
FT /note="V -> E (in Roosevelt; dbSNP:rs34093840)"
FT /evidence="ECO:0000269|PubMed:952968"
FT /id="VAR_003100"
FT VARIANT 23
FT /note="A -> E (in Flatbush; dbSNP:rs35395083)"
FT /id="VAR_003101"
FT VARIANT 25
FT /note="G -> D (in Victoria; dbSNP:rs34460332)"
FT /evidence="ECO:0000269|PubMed:6469695"
FT /id="VAR_003102"
FT VARIANT 26
FT /note="G -> D (in Yokoshima; dbSNP:rs34389944)"
FT /evidence="ECO:0000269|PubMed:3841531"
FT /id="VAR_003103"
FT VARIANT 27
FT /note="E -> D (in Puglia; dbSNP:rs34289459)"
FT /evidence="ECO:0000269|PubMed:8401543"
FT /id="VAR_003104"
FT VARIANT 28
FT /note="A -> S (in Yialousa; dbSNP:rs35152987)"
FT /evidence="ECO:0000269|PubMed:1742490,
FT ECO:0000269|PubMed:8364213"
FT /id="VAR_003105"
FT VARIANT 37
FT /note="P -> H (in Metaponto; dbSNP:rs34383555)"
FT /evidence="ECO:0000269|PubMed:12402333"
FT /id="VAR_030502"
FT VARIANT 44
FT /note="E -> G (in Agrinio; dbSNP:rs36084266)"
FT /evidence="ECO:0000269|PubMed:8537235"
FT /id="VAR_003106"
FT VARIANT 44
FT /note="E -> K (in Melbourne; dbSNP:rs35166721)"
FT /evidence="ECO:0000269|PubMed:4850239"
FT /id="VAR_003107"
FT VARIANT 48
FT /note="D -> V (in Parkville; dbSNP:rs34977235)"
FT /evidence="ECO:0000269|PubMed:1802883"
FT /id="VAR_003108"
FT VARIANT 52
FT /note="P -> R (in Adria; dbSNP:rs34489183)"
FT /id="VAR_003109"
FT VARIANT 58
FT /note="N -> K (in Campania; dbSNP:rs35666685)"
FT /evidence="ECO:0000269|PubMed:12402333"
FT /id="VAR_030503"
FT VARIANT 70
FT /note="G -> R (in Indonesia; dbSNP:rs35913713)"
FT /evidence="ECO:0000269|PubMed:4995018"
FT /id="VAR_003110"
FT VARIANT 71
FT /note="A -> G (in Ventimiglia; dbSNP:rs63750423)"
FT /evidence="ECO:0000269|PubMed:17145605"
FT /id="VAR_030504"
FT VARIANT 76
FT /note="L -> V (in Grovetown; dbSNP:rs34430836)"
FT /evidence="ECO:0000269|PubMed:8330984"
FT /id="VAR_003111"
FT VARIANT 86
FT /note="F -> S (in Etolia; dbSNP:rs35633566)"
FT /evidence="ECO:0000269|PubMed:9101295"
FT /id="VAR_030505"
FT VARIANT 88
FT /note="Q -> K (in Montechiaro; dbSNP:rs63750674)"
FT /evidence="ECO:0000269|PubMed:17145605"
FT /id="VAR_030506"
FT VARIANT 89
FT /note="L -> V (in Lucania; dbSNP:rs34933313)"
FT /evidence="ECO:0000269|PubMed:12402333"
FT /id="VAR_030507"
FT VARIANT 91
FT /note="E -> V (in Honai; dbSNP:rs34420481)"
FT /evidence="ECO:0000269|PubMed:2869009"
FT /id="VAR_003112"
FT VARIANT 94
FT /note="C -> G (in Sant' Antioco; dbSNP:rs28933077)"
FT /evidence="ECO:0000269|PubMed:7713748"
FT /id="VAR_014277"
FT VARIANT 99
FT /note="V -> M (in Wrens; unstable; dbSNP:rs28933076)"
FT /evidence="ECO:0000269|PubMed:2477064"
FT /id="VAR_003113"
FT VARIANT 100
FT /note="D -> N (in Canada; O(2) affinity up;
FT dbSNP:rs35329985)"
FT /evidence="ECO:0000269|PubMed:7129931"
FT /id="VAR_003114"
FT VARIANT 105
FT /note="R -> S (in Capri; dbSNP:rs34390965)"
FT /evidence="ECO:0000269|PubMed:12402333"
FT /id="VAR_030508"
FT VARIANT 117
FT /note="R -> C (in Corfu/Troodos; dbSNP:rs33971270)"
FT /evidence="ECO:0000269|PubMed:16370491,
FT ECO:0000269|PubMed:1742490, ECO:0000269|PubMed:2066116"
FT /id="VAR_003115"
FT VARIANT 117
FT /note="R -> H (in Coburg; dbSNP:rs34536353)"
FT /evidence="ECO:0000269|PubMed:1148221"
FT /id="VAR_003116"
FT VARIANT 118
FT /note="N -> D (in LiangCheng; dbSNP:rs36049174)"
FT /id="VAR_003117"
FT VARIANT 122
FT /note="E -> V (in Manzanares; unstable; dbSNP:rs35790721)"
FT /evidence="ECO:0000269|PubMed:6629825"
FT /id="VAR_003118"
FT VARIANT 126
FT /note="Q -> E (in Zagreb; dbSNP:rs36078803)"
FT /evidence="ECO:0000269|PubMed:6629826"
FT /id="VAR_003119"
FT VARIANT 134
FT /note="V -> A (in Ninive; dbSNP:rs34802738)"
FT /evidence="ECO:0000269|PubMed:15921167"
FT /id="VAR_030509"
FT VARIANT 137
FT /note="G -> D (in Babinga; dbSNP:rs35849348)"
FT /evidence="ECO:0000269|PubMed:5678016"
FT /id="VAR_003120"
FT VARIANT 141
FT /note="A -> V (in Bagheria; dbSNP:rs63750461)"
FT /evidence="ECO:0000269|PubMed:17145605"
FT /id="VAR_030510"
FT VARIANT 142
FT /note="L -> P (in Pelendri; dbSNP:rs33956485)"
FT /evidence="ECO:0000269|PubMed:1742490"
FT /id="VAR_003121"
FT VARIANT 143
FT /note="A -> D (in Fitzroy; dbSNP:rs35848600)"
FT /evidence="ECO:0000269|PubMed:6548205"
FT /id="VAR_003122"
FT VARIANT 147
FT /note="H -> R (in Monreale; dbSNP:rs34149886)"
FT /evidence="ECO:0000269|PubMed:11939506"
FT /id="VAR_014278"
FT HELIX 6..16
FT /evidence="ECO:0007829|PDB:1SHR"
FT TURN 21..23
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 24..35
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 37..46
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 52..56
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 59..77
FT /evidence="ECO:0007829|PDB:1SHR"
FT TURN 78..80
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 82..85
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 87..94
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 102..119
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 120..122
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 125..142
FT /evidence="ECO:0007829|PDB:1SHR"
FT HELIX 144..146
FT /evidence="ECO:0007829|PDB:1SHR"
SQ SEQUENCE 147 AA; 16055 MW; F86BA4A09A57BB05 CRC64;
MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK
VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG
KEFTPQMQAA YQKVVAGVAN ALAHKYH
