Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P02042 (HBD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 148. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hemoglobin subunit delta
Alternative name(s):
Delta-globin
Hemoglobin delta chain
Gene names
Name:HBD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length147 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Heterotetramer of two alpha chains and two delta chains in adult hemoglobin A2 (HbA2). HbA2 represents less than 3.5% of adult hemoglobin. Ref.8

Tissue specificity

Red blood cells.

Sequence similarities

Belongs to the globin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 147146Hemoglobin subunit delta
PRO_0000053167

Sites

Metal binding641Iron (heme distal ligand)
Metal binding931Iron (heme proximal ligand)

Amino acid modifications

Modified residue21N-acetylalanine; in variant Niigata Ref.25

Natural variations

Natural variant21V → A in Niigata. Ref.25
Corresponds to variant rs34991152 [ dbSNP | Ensembl ].
VAR_003096
Natural variant31H → L in Catania. Ref.38
VAR_030499
Natural variant31H → R in Sphakia.
Corresponds to variant rs35433207 [ dbSNP | Ensembl ].
VAR_003097
Natural variant51T → I. Ref.28
Corresponds to variant rs35406175 [ dbSNP | Ensembl ].
VAR_018740
Natural variant51T → S in haplotype T11; Kenya. Ref.2
Corresponds to variant rs35406175 [ dbSNP | Ensembl ].
VAR_018741
Natural variant111A → D in MUMC/Corleone. Ref.37 Ref.38
VAR_030500
Natural variant121V → G in Pylos. Ref.33
Corresponds to variant rs34090605 [ dbSNP | Ensembl ].
VAR_030501
Natural variant131N → K in NYU. Ref.11
Corresponds to variant rs34313675 [ dbSNP | Ensembl ].
VAR_003098
Natural variant171G → R in Delta'. Ref.9
Corresponds to variant rs34012192 [ dbSNP | Ensembl ].
VAR_003099
Natural variant211V → E in Roosevelt. Ref.15
Corresponds to variant rs34093840 [ dbSNP | Ensembl ].
VAR_003100
Natural variant231A → E in Flatbush.
Corresponds to variant rs35395083 [ dbSNP | Ensembl ].
VAR_003101
Natural variant251G → D in Victoria. Ref.19
Corresponds to variant rs34460332 [ dbSNP | Ensembl ].
VAR_003102
Natural variant261G → D in Yokoshima. Ref.22
Corresponds to variant rs34389944 [ dbSNP | Ensembl ].
VAR_003103
Natural variant271E → D in Puglia. Ref.30
Corresponds to variant rs34289459 [ dbSNP | Ensembl ].
VAR_003104
Natural variant281A → S in Yialousa. Ref.24 Ref.28
Corresponds to variant rs35152987 [ dbSNP | Ensembl ].
VAR_003105
Natural variant371P → H in Metaponto. Ref.35
Corresponds to variant rs34383555 [ dbSNP | Ensembl ].
VAR_030502
Natural variant441E → G in Agrinio. Ref.32
Corresponds to variant rs36084266 [ dbSNP | Ensembl ].
VAR_003106
Natural variant441E → K in Melbourne. Ref.13
Corresponds to variant rs35166721 [ dbSNP | Ensembl ].
VAR_003107
Natural variant481D → V in Parkville. Ref.26
Corresponds to variant rs34977235 [ dbSNP | Ensembl ].
VAR_003108
Natural variant521P → R in Adria.
Corresponds to variant rs34489183 [ dbSNP | Ensembl ].
VAR_003109
Natural variant581N → K in Campania. Ref.35
Corresponds to variant rs35666685 [ dbSNP | Ensembl ].
VAR_030503
Natural variant701G → R in Indonesia. Ref.12
Corresponds to variant rs35913713 [ dbSNP | Ensembl ].
VAR_003110
Natural variant711A → G in Ventimiglia. Ref.38
VAR_030504
Natural variant761L → V in Grovetown. Ref.29
Corresponds to variant rs34430836 [ dbSNP | Ensembl ].
VAR_003111
Natural variant861F → S in Etolia. Ref.33
Corresponds to variant rs35633566 [ dbSNP | Ensembl ].
VAR_030505
Natural variant881Q → K in Montechiaro. Ref.38
VAR_030506
Natural variant891L → V in Lucania. Ref.35
Corresponds to variant rs34933313 [ dbSNP | Ensembl ].
VAR_030507
Natural variant911E → V in Honai. Ref.21
Corresponds to variant rs34420481 [ dbSNP | Ensembl ].
VAR_003112
Natural variant941C → G in Sant' Antioco. Ref.31
Corresponds to variant rs28933077 [ dbSNP | Ensembl ].
VAR_014277
Natural variant991V → M in Wrens; unstable. Ref.23
Corresponds to variant rs28933076 [ dbSNP | Ensembl ].
VAR_003113
Natural variant1001D → N in Canada; O(2) affinity up. Ref.16
Corresponds to variant rs35329985 [ dbSNP | Ensembl ].
VAR_003114
Natural variant1051R → S in Capri. Ref.35
Corresponds to variant rs34390965 [ dbSNP | Ensembl ].
VAR_030508
Natural variant1171R → C in Corfu/Troodos. Ref.4 Ref.24 Ref.27
Corresponds to variant rs33971270 [ dbSNP | Ensembl ].
VAR_003115
Natural variant1171R → H in Coburg. Ref.14
Corresponds to variant rs34536353 [ dbSNP | Ensembl ].
VAR_003116
Natural variant1181N → D in LiangCheng.
Corresponds to variant rs36049174 [ dbSNP | Ensembl ].
VAR_003117
Natural variant1221E → V in Manzanares; unstable. Ref.17
Corresponds to variant rs35790721 [ dbSNP | Ensembl ].
VAR_003118
Natural variant1261Q → E in Zagreb. Ref.18
Corresponds to variant rs36078803 [ dbSNP | Ensembl ].
VAR_003119
Natural variant1341V → A in Ninive. Ref.36
VAR_030509
Natural variant1371G → D in Babinga. Ref.10
Corresponds to variant rs35849348 [ dbSNP | Ensembl ].
VAR_003120
Natural variant1411A → V in Bagheria. Ref.38
VAR_030510
Natural variant1421L → P in Pelendri. Ref.24
VAR_003121
Natural variant1431A → D in Fitzroy. Ref.20
VAR_003122
Natural variant1471H → R in Monreale. Ref.34
VAR_014278

Secondary structure

........................ 147
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P02042 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: F86BA4A09A57BB05

FASTA14716,055
        10         20         30         40         50         60 
MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK 

        70         80         90        100        110        120 
VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG 

       130        140 
KEFTPQMQAA YQKVVAGVAN ALAHKYH 

« Hide

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"Haemoglobin A2: alpha-2-delta-2-16 glycine-->arginine."
Ball E.W., Meynell M.J., Beale D., Kynoch P., Lehmann H., Strelton A.O.W.
Nature 209:1217-1218(1966) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

HbVar

Human hemoglobin variants and thalassemias

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31376.1.
PIRHDHU. A90804.
RefSeqNP_000510.1. NM_000519.3.
UniGeneHs.699280.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1SHRX-ray1.88B/D2-147[»]
1SI4X-ray2.20B/D2-147[»]
ProteinModelPortalP02042.
SMRP02042. Positions 2-147.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109295. 1 interaction.
IntActP02042. 1 interaction.
STRING9606.ENSP00000369654.

PTM databases

PhosphoSiteP02042.

2D gel databases

REPRODUCTION-2DPAGEIPI00473011.
UCD-2DPAGEP02042.

Proteomic databases

MaxQBP02042.
PaxDbP02042.
PeptideAtlasP02042.
PRIDEP02042.

Protocols and materials databases

DNASU3045.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380299; ENSP00000369654; ENSG00000223609.
GeneID3045.
KEGGhsa:3045.
UCSCuc001maf.1. human.

Organism-specific databases

CTD3045.
GeneCardsGC11M005253.
HGNCHGNC:4829. HBD.
HPACAB037087.
MIM142000. gene.
neXtProtNX_P02042.
Orphanet231237. Delta-beta-thalassemia.
330032. Hemoglobin Lepore - beta-thalassemia.
PharmGKBPA29204.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG269316.
HOGENOMHOG000036868.
HOVERGENHBG009709.
InParanoidP02042.
KOK16151.
OMAMIVIVMA.
PhylomeDBP02042.
TreeFamTF333268.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressP02042.
BgeeP02042.
CleanExHS_HBD.
GenevestigatorP02042.

Family and domain databases

Gene3D1.10.490.10. 1 hit.
InterProIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
IPR002337. Haemoglobin_b.
[Graphical view]
PfamPF00042. Globin. 1 hit.
[Graphical view]
PRINTSPR00814. BETAHAEM.
SUPFAMSSF46458. SSF46458. 1 hit.
PROSITEPS01033. GLOBIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHBD. human.
EvolutionaryTraceP02042.
GeneWikiHBD.
GenomeRNAi3045.
NextBio12055.
PROP02042.
SOURCESearch...

Entry information

Entry nameHBD_HUMAN
AccessionPrimary (citable) accession number: P02042
Secondary accession number(s): Q3Y5H3, Q8WXT7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 148 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM