P02042 (HBD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hemoglobin subunit delta

Alternative name(s):
Delta-globin
Hemoglobin delta chain

Gene names

Name:

HBD

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	147 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.
Tissue specificity	Red blood cells.
Sequence similarities	Belongs to the globin family.

Ontologies

Keywords
Biological process	Oxygen transport Transport
Coding sequence diversity	Polymorphism
Ligand	Heme Iron Metal-binding
PTM	Acetylation
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	blood coagulation Traceable author statement. Source: Reactome
Cellular_component	hemoglobin complex Traceable author statement PubMed 7555018. Source: ProtInc
Molecular_function	heme binding Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: InterPro oxygen binding Inferred from electronic annotation. Source: InterPro oxygen transporter activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed Ref.6

Chain

2 – 147

146

Hemoglobin subunit delta

PRO_0000053167

Sites

Metal binding

64

1

Iron (heme distal ligand)

Metal binding

93

1

Iron (heme proximal ligand)

Amino acid modifications

Modified residue

2

1

N-acetylalanine; in variant Niigata

Natural variations

Natural variant

2

1

V → A in Niigata. Ref.24
Corresponds to variant rs34991152 [ dbSNP | Ensembl ].

VAR_003096

Natural variant

3

1

H → L in Catania. Ref.37

VAR_030499

Natural variant

3

1

H → R in Sphakia.
Corresponds to variant rs35433207 [ dbSNP | Ensembl ].

VAR_003097

Natural variant

5

1

T → I. Ref.27
Corresponds to variant rs35406175 [ dbSNP | Ensembl ].

VAR_018740

Natural variant

5

1

T → S in haplotype T11; Kenya. Ref.2

VAR_018741

Natural variant

11

1

A → D in MUMC/Corleone. Ref.36 Ref.37

VAR_030500

Natural variant

12

1

V → G in Pylos. Ref.32
Corresponds to variant rs34090605 [ dbSNP | Ensembl ].

VAR_030501

Natural variant

13

1

N → K in NYU. Ref.10
Corresponds to variant rs34313675 [ dbSNP | Ensembl ].

VAR_003098

Natural variant

17

1

G → R in Delta'. Ref.8
Corresponds to variant rs34012192 [ dbSNP | Ensembl ].

VAR_003099

Natural variant

21

1

V → E in Roosevelt. Ref.14
Corresponds to variant rs34093840 [ dbSNP | Ensembl ].

VAR_003100

Natural variant

23

1

A → E in Flatbush.
Corresponds to variant rs35395083 [ dbSNP | Ensembl ].

VAR_003101

Natural variant

25

1

G → D in Victoria. Ref.18
Corresponds to variant rs34460332 [ dbSNP | Ensembl ].

VAR_003102

Natural variant

26

1

G → D in Yokoshima. Ref.21
Corresponds to variant rs34389944 [ dbSNP | Ensembl ].

VAR_003103

Natural variant

27

1

E → D in Puglia. Ref.29
Corresponds to variant rs34289459 [ dbSNP | Ensembl ].

VAR_003104

Natural variant

28

1

A → S in Yialousa. Ref.23 Ref.27
Corresponds to variant rs35152987 [ dbSNP | Ensembl ].

VAR_003105

Natural variant

37

1

P → H in Metaponto. Ref.34
Corresponds to variant rs34383555 [ dbSNP | Ensembl ].

VAR_030502

Natural variant

44

1

E → G in Agrinio. Ref.31
Corresponds to variant rs36084266 [ dbSNP | Ensembl ].

VAR_003106

Natural variant

44

1

E → K in Melbourne. Ref.12
Corresponds to variant rs35166721 [ dbSNP | Ensembl ].

VAR_003107

Natural variant

48

1

D → V in Parkville. Ref.25
Corresponds to variant rs34977235 [ dbSNP | Ensembl ].

VAR_003108

Natural variant

52

1

P → R in Adria.
Corresponds to variant rs34489183 [ dbSNP | Ensembl ].

VAR_003109

Natural variant

58

1

N → K in Campania. Ref.34
Corresponds to variant rs35666685 [ dbSNP | Ensembl ].

VAR_030503

Natural variant

70

1

G → R in Indonesia. Ref.11
Corresponds to variant rs35913713 [ dbSNP | Ensembl ].

VAR_003110

Natural variant

71

1

A → G in Ventimiglia. Ref.37

VAR_030504

Natural variant

76

1

L → V in Grovetown. Ref.28
Corresponds to variant rs34430836 [ dbSNP | Ensembl ].

VAR_003111

Natural variant

86

1

F → S in Etolia. Ref.32
Corresponds to variant rs35633566 [ dbSNP | Ensembl ].

VAR_030505

Natural variant

88

1

Q → K in Montechiaro. Ref.37

VAR_030506

Natural variant

89

1

L → V in Lucania. Ref.34
Corresponds to variant rs34933313 [ dbSNP | Ensembl ].

VAR_030507

Natural variant

91

1

E → V in Honai. Ref.20
Corresponds to variant rs34420481 [ dbSNP | Ensembl ].

VAR_003112

Natural variant

94

1

C → G in Sant' Antioco. Ref.30
Corresponds to variant rs28933077 [ dbSNP | Ensembl ].

VAR_014277

Natural variant

99

1

V → M in Wrens; unstable. Ref.22
Corresponds to variant rs28933076 [ dbSNP | Ensembl ].

VAR_003113

Natural variant

100

1

D → N in Canada; O(2) affinity up. Ref.15
Corresponds to variant rs35329985 [ dbSNP | Ensembl ].

VAR_003114

Natural variant

105

1

R → S in Capri. Ref.34
Corresponds to variant rs34390965 [ dbSNP | Ensembl ].

VAR_030508

Natural variant

117

1

R → C in Corfu/Troodos. Ref.4 Ref.23 Ref.26
Corresponds to variant rs33971270 [ dbSNP | Ensembl ].

VAR_003115

Natural variant

117

1

R → H in Coburg. Ref.13
Corresponds to variant rs34536353 [ dbSNP | Ensembl ].

VAR_003116

Natural variant

118

1

N → D in LiangCheng.
Corresponds to variant rs36049174 [ dbSNP | Ensembl ].

VAR_003117

Natural variant

122

1

E → V in Manzanares; unstable. Ref.16
Corresponds to variant rs35790721 [ dbSNP | Ensembl ].

VAR_003118

Natural variant

126

1

Q → E in Zagreb. Ref.17
Corresponds to variant rs36078803 [ dbSNP | Ensembl ].

VAR_003119

Natural variant

134

1

V → A in Ninive. Ref.35

VAR_030509

Natural variant

137

1

G → D in Babinga. Ref.9

VAR_003120

Natural variant

141

1

A → V in Bagheria. Ref.37

VAR_030510

Natural variant

142

1

L → P in Pelendri. Ref.23

VAR_003121

Natural variant

143

1

A → D in Fitzroy. Ref.19

VAR_003122

Natural variant

147

1

H → R in Monreale. Ref.33

VAR_014278

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

147

Helix Strand Turn

Details...

Helix

6 – 16

11

Turn

21 – 23

3

Helix

24 – 35

12

Helix

37 – 46

10

Helix

52 – 56

5

Helix

59 – 77

19

Turn

78 – 80

3

Helix

82 – 85

4

Helix

87 – 94

8

Helix

102 – 119

18

Helix

120 – 122

3

Helix

125 – 142

18

Helix

144 – 146

3

Sequences

	Sequence		Length	Mass (Da)
	P02042 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: F86BA4A09A57BB05	FASTA	147	16,055
	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

References

	« Hide 'large scale' referencesShow '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.
[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]	"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.
[9]	"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.
[10]	"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.
[11]	"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.
[12]	"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.
[13]	"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.
[14]	"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.
[15]	"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.
[16]	"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.
[17]	"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.
[18]	"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.
[19]	"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.
[20]	"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.
[21]	"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.
[22]	"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.
[23]	"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.
[24]	"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.
[25]	"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.
[26]	"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.
[27]	"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.
[28]	"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.
[29]	"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.
[30]	"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.
[31]	"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.
[32]	"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.
[33]	"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.
[34]	"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.
[35]	"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.
[36]	"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.
[37]	"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.

IPI

IPI00473011.

PIR

HDHU. A90804.

RefSeq

NP_000510.1. NM_000519.3.

UniGene

Hs.699280.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1SHR	X-ray	1.88	B/D	2-146	[»]
1SI4	X-ray	2.20	B/D	2-146	[»]

ProteinModelPortal

P02042.

ModBase

Search...

Protein-protein interaction databases

IntAct

P02042. 1 interaction.

STRING

9606.ENSP00000369654.

PTM databases

PhosphoSite

P02042.

Polymorphism databases

DMDM

122713.

2D gel databases

REPRODUCTION-2DPAGE

IPI00473011.

UCD-2DPAGE

P02042.

Proteomic databases

PaxDb

P02042.

PeptideAtlas

P02042.

PRIDE

P02042.

Protocols and materials databases

DNASU

3045.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000380299; ENSP00000369654; ENSG00000223609.

GeneID

3045.

KEGG

hsa:3045.

UCSC

uc001maf.1. human.

Organism-specific databases

CTD

3045.

GeneCards

GC11M005253.

HGNC

HGNC:4829. HBD.

HPA

CAB037087.

MIM

142000. gene.

neXtProt

NX_P02042.

Orphanet

231237. Delta-beta thalassemia.

PharmGKB

PA29204.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG269316.

HOGENOM

HOG000036868.

HOVERGEN

HBG009709.

InParanoid

P02042.

KO

K16151.

OMA

HGRTVMG.

Enzyme and pathway databases

Reactome

REACT_604. Hemostasis.

Gene expression databases

ArrayExpress

P02042.

Bgee

P02042.

CleanEx

HS_HBD.

Genevestigator

P02042.

GermOnline

ENSG00000188170. Homo sapiens.

Family and domain databases

Gene3D

1.10.490.10. 1 hit.

InterPro

IPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
IPR002337. Haemoglobin_b.
[Graphical view]

Pfam

PF00042. Globin. 1 hit.
[Graphical view]

PRINTS

PR00814. BETAHAEM.

SUPFAM

SSF46458. Globin_like. 1 hit.

PROSITE

PS01033. GLOBIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

HBD. human.

EvolutionaryTrace

P02042.

GenomeRNAi

3045.

NextBio

12055.

SOURCE

Search...

Entry information

Entry name

HBD_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 138 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.