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Protein

Hemoglobin subunit alpha

Gene

HBA1

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

Functioni

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi59Iron (heme distal ligand)1
Metal bindingi88Iron (heme proximal ligand)1

GO - Molecular functioni

GO - Biological processi

  • bicarbonate transport Source: Reactome
  • cellular oxidant detoxification Source: GOC
  • hydrogen peroxide catabolic process Source: BHF-UCL
  • oxygen transport Source: UniProtKB
  • positive regulation of cell death Source: BHF-UCL
  • protein heterooligomerization Source: BHF-UCL
  • receptor-mediated endocytosis Source: Reactome
  • response to hydrogen peroxide Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Oxygen transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:G66-30907-MONOMER.
ReactomeiR-HSA-1237044. Erythrocytes take up carbon dioxide and release oxygen.
R-HSA-1247673. Erythrocytes take up oxygen and release carbon dioxide.
R-HSA-2168880. Scavenging of heme from plasma.

Protein family/group databases

TCDBi1.A.107.1.1. the pore-forming globin (globin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Hemoglobin subunit alpha
Alternative name(s):
Alpha-globin
Hemoglobin alpha chain
Gene namesi
Name:HBA1
AND
Name:HBA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:4823. HBA1.
HGNC:4824. HBA2.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • cytosol Source: Reactome
  • cytosolic small ribosomal subunit Source: UniProtKB
  • endocytic vesicle lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • haptoglobin-hemoglobin complex Source: BHF-UCL
  • hemoglobin complex Source: UniProtKB
  • membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Heinz body anemias (HEIBAN)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionForm of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
See also OMIM:140700
Alpha-thalassemia (A-THAL)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia).
See also OMIM:604131

Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

Hemoglobin H disease (HBH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.
See also OMIM:613978
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06640163Missing in HBH; hemoglobin Aghia Sophia. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi3039.
3040.
MalaCardsiHBA1.
HBA2.
MIMi140700. phenotype.
141800. gene+phenotype.
604131. phenotype.
613978. phenotype.
OpenTargetsiENSG00000188536.
ENSG00000206172.
Orphaneti98791. Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16.
330041. Autosomal dominant methemoglobinemia.
163596. Hb Bart's hydrops fetalis.
93616. Hemoglobin H disease.
PharmGKBiPA29199.

Chemistry databases

ChEMBLiCHEMBL2887.
DrugBankiDB00893. Iron Dextran.
DB00358. Mefloquine.

Polymorphism and mutation databases

BioMutaiHBA1.
DMDMi57013850.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved4 Publications
ChainiPRO_00000526532 – 142Hemoglobin subunit alphaAdd BLAST141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei4PhosphoserineCombined sources1
Modified residuei8N6-succinyllysine; alternateBy similarity1
Glycosylationi8N-linked (Glc) (glycation); alternate1
Modified residuei9PhosphothreonineCombined sources1
Modified residuei12N6-succinyllysineBy similarity1
Modified residuei17N6-acetyllysine; alternateCombined sources1
Modified residuei17N6-succinyllysine; alternateBy similarity1
Glycosylationi17N-linked (Glc) (glycation); alternate1
Modified residuei25PhosphotyrosineCombined sources1
Modified residuei36PhosphoserineCombined sources1
Modified residuei41N6-succinyllysine; alternateBy similarity1
Glycosylationi41N-linked (Glc) (glycation); alternate1
Modified residuei50PhosphoserineCombined sources1
Glycosylationi62N-linked (Glc) (glycation)1
Modified residuei103PhosphoserineBy similarity1
Modified residuei109PhosphothreonineBy similarity1
Modified residuei125PhosphoserineBy similarity1
Modified residuei132PhosphoserineBy similarity1
Modified residuei135PhosphothreonineBy similarity1
Modified residuei138PhosphothreonineBy similarity1
Modified residuei139PhosphoserineBy similarity1

Post-translational modificationi

The initiator Met is not cleaved in variant Thionville and is acetylated.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei12Not glycated1
Sitei57Not glycated1
Sitei61Not glycated1
Sitei91Not glycated1
Sitei100Not glycated1

Keywords - PTMi

Acetylation, Glycation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP69905.
MaxQBiP69905.
PaxDbiP69905.
PeptideAtlasiP69905.
PRIDEiP69905.
TopDownProteomicsiP69905.

2D gel databases

DOSAC-COBS-2DPAGEP69905.
REPRODUCTION-2DPAGEIPI00410714.
SWISS-2DPAGEP69905.
UCD-2DPAGEP01922.
P69905.

PTM databases

iPTMnetiP69905.
PhosphoSitePlusiP69905.

Miscellaneous databases

PMAP-CutDBP69905.

Expressioni

Tissue specificityi

Red blood cells.

Gene expression databases

BgeeiENSG00000188536.
CleanExiHS_HBA1.
HS_HBA2.
ExpressionAtlasiP69905. baseline and differential.
GenevisibleiP69905. HS.

Organism-specific databases

HPAiCAB032534.
CAB038417.
HPA043780.

Interactioni

Subunit structurei

Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two alpha chains and two delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two alpha chains and two gamma chains in fetal hemoglobin F (HbF).

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC57Q2TAC23EBI-714680,EBI-2808286
HBBP6887120EBI-714680,EBI-715554
KRT40Q6A1623EBI-714680,EBI-10171697

Protein-protein interaction databases

BioGridi109289. 22 interactors.
109290. 38 interactors.
DIPiDIP-35199N.
IntActiP69905. 26 interactors.
MINTiMINT-1519936.
STRINGi9606.ENSP00000322421.

Structurei

Secondary structure

1142
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi5 – 18Combined sources14
Helixi19 – 21Combined sources3
Helixi22 – 36Combined sources15
Helixi38 – 43Combined sources6
Beta strandi45 – 47Combined sources3
Beta strandi50 – 52Combined sources3
Helixi54 – 72Combined sources19
Turni73 – 75Combined sources3
Helixi77 – 80Combined sources4
Helixi82 – 90Combined sources9
Turni91 – 93Combined sources3
Helixi97 – 113Combined sources17
Turni115 – 117Combined sources3
Helixi120 – 138Combined sources19
Helixi139 – 141Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A00X-ray2.00A/C2-142[»]
1A01X-ray1.80A/C2-142[»]
1A0UX-ray2.14A/C2-142[»]
1A0ZX-ray2.00A/C2-142[»]
1A3NX-ray1.80A/C2-142[»]
1A3OX-ray1.80A/C2-142[»]
1A9WX-ray2.90A/C2-142[»]
1ABWX-ray2.00A1-142[»]
1ABYX-ray2.60A1-142[»]
1AJ9X-ray2.20A2-142[»]
1B86X-ray2.50A/C2-142[»]
1BABX-ray1.50A/C1-142[»]
1BBBX-ray1.70A/C2-142[»]
1BIJX-ray2.30A/C2-142[»]
1BUWX-ray1.90A/C2-142[»]
1BZ0X-ray1.50A/C2-142[»]
1BZ1X-ray1.59A/C1-142[»]
1BZZX-ray1.59A/C2-142[»]
1C7BX-ray1.80A/C2-142[»]
1C7CX-ray1.80A2-142[»]
1C7DX-ray1.80A2-142[»]
1CLSX-ray1.90A/C2-142[»]
1CMYX-ray3.00A/C2-142[»]
1COHX-ray2.90A/C2-142[»]
1DKEX-ray2.10A/C2-142[»]
1DXTX-ray1.70A/C2-142[»]
1DXUX-ray1.70A/C2-142[»]
1DXVX-ray1.70A/C2-142[»]
1FDHX-ray2.50A/B2-142[»]
1FN3X-ray2.48A/C2-142[»]
1G9VX-ray1.85A/C2-142[»]
1GBUX-ray1.80A/C2-142[»]
1GBVX-ray2.00A/C2-142[»]
1GLIX-ray2.50A/C3-142[»]
1GZXX-ray2.10A/C2-142[»]
1HABX-ray2.30A/C2-142[»]
1HACX-ray2.60A/C2-142[»]
1HBAX-ray2.10A/C2-142[»]
1HBBX-ray1.90A/C2-142[»]
1HBSX-ray3.00A/C/E/G2-142[»]
1HCOX-ray2.70A2-142[»]
1HDBX-ray2.20A/C2-142[»]
1HGAX-ray2.10A/C2-142[»]
1HGBX-ray2.10A/C2-142[»]
1HGCX-ray2.10A/C2-142[»]
1HHOX-ray2.10A2-142[»]
1IRDX-ray1.25A2-142[»]
1J3YX-ray1.55A/C/E/G2-142[»]
1J3ZX-ray1.60A/C/E/G2-142[»]
1J40X-ray1.45A/C/E/G2-142[»]
1J41X-ray1.45A/C/E/G2-142[»]
1J7SX-ray2.20A/C2-142[»]
1J7WX-ray2.00A/C2-142[»]
1J7YX-ray1.70A/C2-142[»]
1JY7X-ray3.20A/C/P/R/U/W2-142[»]
1K0YX-ray1.87A/C2-142[»]
1K1KX-ray2.00A2-142[»]
1KD2X-ray1.87A/C2-142[»]
1LFLX-ray2.70A/C/P/R2-142[»]
1LFQX-ray2.60A2-142[»]
1LFTX-ray2.60A2-142[»]
1LFVX-ray2.80A2-142[»]
1LFYX-ray3.30A2-142[»]
1LFZX-ray3.10A2-142[»]
1LJWX-ray2.16A2-142[»]
1M9PX-ray2.10A/C2-142[»]
1MKOX-ray2.18A/C2-142[»]
1NEJX-ray2.10A/C2-142[»]
1NIHX-ray2.60A/C2-142[»]
1NQPX-ray1.73A/C2-142[»]
1O1IX-ray2.30A2-142[»]
1O1JX-ray1.90A2-142[»]
1O1KX-ray2.00A/C3-142[»]
1O1LX-ray1.80A2-142[»]
1O1MX-ray1.85A2-142[»]
1O1NX-ray1.80A2-142[»]
1O1OX-ray1.80A/C2-142[»]
1O1PX-ray1.80A2-142[»]
1QI8X-ray1.80A/C3-142[»]
1QSHX-ray1.70A/C2-142[»]
1QSIX-ray1.70A/C2-142[»]
1QXDX-ray2.25A/C2-142[»]
1QXEX-ray1.85A/C2-142[»]
1R1XX-ray2.15A2-142[»]
1R1YX-ray1.80A/C2-142[»]
1RPSX-ray2.11A/C2-142[»]
1RQ3X-ray1.91A/C2-142[»]
1RQ4X-ray2.11A/C2-142[»]
1RQAX-ray2.11A/C2-142[»]
1RVWX-ray2.50A2-142[»]
1SDKX-ray1.80A/C2-142[»]
1SDLX-ray1.80A/C2-142[»]
1SHRX-ray1.88A/C2-142[»]
1SI4X-ray2.20A/C2-142[»]
1THBX-ray1.50A/C2-142[»]
1UIWX-ray1.50A/C/E/G2-142[»]
1VWTX-ray1.90A/C2-142[»]
1XXTX-ray1.91A/C2-142[»]
1XY0X-ray1.99A/C2-142[»]
1XYEX-ray2.13A/C3-142[»]
1XZ2X-ray1.90A/C2-142[»]
1XZ4X-ray2.00A/C3-142[»]
1XZ5X-ray2.11A/C2-142[»]
1XZ7X-ray1.90A/C2-142[»]
1XZUX-ray2.16A/C2-142[»]
1XZVX-ray2.11A/C2-142[»]
1Y01X-ray2.80B1-142[»]
1Y09X-ray2.25A/C2-142[»]
1Y0AX-ray2.22A/C2-140[»]
1Y0CX-ray2.30A/C2-140[»]
1Y0DX-ray2.10A/C2-141[»]
1Y0TX-ray2.14A/C2-142[»]
1Y0WX-ray2.14A/C2-142[»]
1Y22X-ray2.16A/C2-142[»]
1Y2ZX-ray2.07A/C2-142[»]
1Y31X-ray2.13A/C2-142[»]
1Y35X-ray2.12A/C2-142[»]
1Y45X-ray2.00A/C2-142[»]
1Y46X-ray2.22A/C2-142[»]
1Y4BX-ray2.10A/C2-142[»]
1Y4FX-ray2.00A/C2-142[»]
1Y4GX-ray1.91A/C2-142[»]
1Y4PX-ray1.98A/C2-142[»]
1Y4QX-ray2.11A/C2-142[»]
1Y4RX-ray2.22A/C2-142[»]
1Y4VX-ray1.84A/C2-142[»]
1Y5FX-ray2.14A/C2-142[»]
1Y5JX-ray2.03A/C2-142[»]
1Y5KX-ray2.20A/C2-142[»]
1Y7CX-ray2.10A/C2-142[»]
1Y7DX-ray1.90A/C2-142[»]
1Y7GX-ray2.10A/C2-142[»]
1Y7ZX-ray1.98A/C2-142[»]
1Y83X-ray1.90A/C2-142[»]
1Y85X-ray2.13A/C2-142[»]
1Y8WX-ray2.90A/C2-142[»]
1YDZX-ray3.30A/C2-140[»]
1YE0X-ray2.50A/C2-142[»]
1YE1X-ray4.50A/C2-142[»]
1YE2X-ray1.80A/C2-142[»]
1YENX-ray2.80A/C2-142[»]
1YEOX-ray2.22A/C2-142[»]
1YEQX-ray2.75A/C2-142[»]
1YEUX-ray2.12A/C2-142[»]
1YEVX-ray2.11A/C2-142[»]
1YFFX-ray2.40A/C/E/G2-142[»]
1YG5X-ray2.70A/C2-142[»]
1YGDX-ray2.73A/C2-142[»]
1YGFX-ray2.70A/C2-142[»]
1YH9X-ray2.20A/C2-142[»]
1YHEX-ray2.10A/C2-142[»]
1YHRX-ray2.60A/C2-142[»]
1YIEX-ray2.40A/C2-142[»]
1YIHX-ray2.00A/C2-142[»]
1YVQX-ray1.80A/C2-142[»]
1YVTX-ray1.80A2-142[»]
1YZIX-ray2.07A2-142[»]
1Z8UX-ray2.40B/D1-142[»]
2D5ZX-ray1.45A/C2-142[»]
2D60X-ray1.70A/C2-142[»]
2DN1X-ray1.25A2-142[»]
2DN2X-ray1.25A/C2-142[»]
2DN3X-ray1.25A2-142[»]
2DXMneutron diffraction2.10A/C2-142[»]
2H35NMR-A/C2-142[»]
2HBCX-ray2.10A2-142[»]
2HBDX-ray2.20A2-142[»]
2HBEX-ray2.00A2-142[»]
2HBFX-ray2.20A2-142[»]
2HBSX-ray2.05A/C/E/G2-142[»]
2HCOX-ray2.70A2-142[»]
2HHBX-ray1.74A/C2-142[»]
2HHDX-ray2.20A/C2-142[»]
2HHEX-ray2.20A/C2-142[»]
2M6ZNMR-A/C2-142[»]
2W6VX-ray1.80A/C2-142[»]
2W72X-ray1.07A2-142[»]
C3-142[»]
2YRSX-ray2.30A/C/I/M2-142[»]
3B75X-ray2.30A/C/E/G/S2-142[»]
3D17X-ray2.80A/C2-142[»]
3D7OX-ray1.80A2-142[»]
3DUTX-ray1.55A/C2-142[»]
3HHBX-ray1.74A/C2-142[»]
3HXNX-ray2.00A/C2-142[»]
3IA3X-ray3.20B/D1-142[»]
3IC0X-ray1.80A/C2-142[»]
3IC2X-ray2.40A/C2-142[»]
3KMFneutron diffraction2.00A/E2-142[»]
3NL7X-ray1.80A2-142[»]
3NMMX-ray1.60A/C2-142[»]
3ODQX-ray3.10A/C2-142[»]
3ONZX-ray2.09A2-142[»]
3OO4X-ray1.90A2-142[»]
3OO5X-ray2.10A2-142[»]
3OVUX-ray2.83C2-142[»]
3P5QX-ray2.00A2-142[»]
3QJBX-ray1.80A2-142[»]
3QJCX-ray2.00A2-142[»]
3QJDX-ray1.56A/C2-142[»]
3QJEX-ray1.80A/C2-142[»]
3R5IX-ray2.20A/C2-142[»]
3S48X-ray3.05C/D2-142[»]
3S65X-ray1.80A/C2-142[»]
3S66X-ray1.40A2-142[»]
3SZKX-ray3.01A/D2-142[»]
3WCPX-ray1.94A/C2-142[»]
3WHMX-ray1.85A/E2-142[»]
4FC3X-ray2.26A2-142[»]
4HHBX-ray1.74A/C2-142[»]
4IJ2X-ray4.24A/C2-142[»]
4L7YX-ray1.80A/C2-142[»]
4M4AX-ray2.05A2-142[»]
4M4BX-ray2.00A2-142[»]
4MQCX-ray2.20A2-142[»]
4MQGX-ray1.68A2-142[»]
4MQHX-ray2.50A2-140[»]
4MQIX-ray1.92A2-141[»]
4MQJX-ray1.80A/C/E/G2-142[»]
4MQKX-ray2.24A/C/E/G2-142[»]
4N7NX-ray2.75A/C/E/G/I/K2-142[»]
4N7OX-ray2.50A/C/E/G/I/K2-142[»]
4N7PX-ray2.81A/C/E/G/I/K2-142[»]
4N8TX-ray1.90A2-142[»]
4NI0X-ray2.15A2-142[»]
4NI1X-ray1.90A2-142[»]
4ROLX-ray1.70A/C2-142[»]
4ROMX-ray1.90A/C2-142[»]
4WJGX-ray3.10A/F/K/P/U/Z2-142[»]
4X0LX-ray2.05A2-142[»]
4XS0X-ray2.55A2-142[»]
5E29X-ray1.85A/C2-142[»]
5E6EX-ray1.76A2-142[»]
5E83X-ray1.80A/C2-142[»]
5EE4X-ray2.30C/E2-142[»]
5HU6X-ray2.90A2-142[»]
5JDOX-ray3.20C2-142[»]
E2-141[»]
5KDQX-ray2.15A/C3-142[»]
5SW7X-ray1.85A2-142[»]
6HBWX-ray2.00A/C2-142[»]
ProteinModelPortaliP69905.
SMRiP69905.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP69905.

Family & Domainsi

Sequence similaritiesi

Belongs to the globin family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3378. Eukaryota.
COG1018. LUCA.
GeneTreeiENSGT00760000119197.
HOVERGENiHBG009709.
InParanoidiP69905.
KOiK13822.
OMAiDKFLCAV.
OrthoDBiEOG091G0S0X.
PhylomeDBiP69905.
TreeFamiTF332328.

Family and domain databases

CDDicd08927. Hb-alpha_like. 1 hit.
Gene3Di1.10.490.10. 1 hit.
InterProiIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin/Proto.
IPR002338. Haemoglobin_a-typ.
IPR002339. Haemoglobin_pi.
[Graphical view]
PfamiPF00042. Globin. 1 hit.
[Graphical view]
PRINTSiPR00612. ALPHAHAEM.
PR00815. PIHAEM.
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.

P69905-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVLSPADKTN VKAAWGKVGA HAGEYGAEAL ERMFLSFPTT KTYFPHFDLS
60 70 80 90 100
HGSAQVKGHG KKVADALTNA VAHVDDMPNA LSALSDLHAH KLRVDPVNFK
110 120 130 140
LLSHCLLVTL AAHLPAEFTP AVHASLDKFL ASVSTVLTSK YR
Length:142
Mass (Da):15,258
Last modified:January 23, 2007 - v2
Checksum:i15E13666573BBBAE
GO

Sequence cautioni

The sequence BAD97112 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10N → H in BAD97112 (Ref. 13) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0027192V → E in Thionville; O(2) affinity down. 1 PublicationCorresponds to variant rs33981821dbSNPEnsembl.1
Natural variantiVAR_0027203L → R in ChongQing; O(2) affinity up. 1 PublicationCorresponds to variant rs36030576dbSNPEnsembl.1
Natural variantiVAR_0027216A → D in J-Toronto. Corresponds to variant rs34090856dbSNPEnsembl.1
Natural variantiVAR_0027226A → P in Karachi. Corresponds to variant rs34751764dbSNPEnsembl.1
Natural variantiVAR_0027237D → A in Sawara; O(2) affinity up. 2 PublicationsCorresponds to variant rs33986902dbSNPEnsembl.1
Natural variantiVAR_0027247D → G in Swan River. 1 PublicationCorresponds to variant rs281864805dbSNPEnsembl.1
Natural variantiVAR_0027257D → N in Dunn; O(2) affinity up. 2 PublicationsCorresponds to variant rs33961916dbSNPEnsembl.1
Natural variantiVAR_0027267D → V in Ferndown; O(2) affinity up. 1 PublicationCorresponds to variant rs281864805dbSNPEnsembl.1
Natural variantiVAR_0027277D → Y in Woodville; O(2) affinity up. 1 PublicationCorresponds to variant rs281864806dbSNPEnsembl.1
Natural variantiVAR_0027288K → E in Kurosaki. 1 PublicationCorresponds to variant rs34817956dbSNPEnsembl.1
Natural variantiVAR_03814910N → T in Broomfield. Corresponds to variant rs281860608dbSNPEnsembl.1
Natural variantiVAR_01460511V → F.Corresponds to variant rs1799896dbSNPEnsembl.1
Natural variantiVAR_00272912K → E in Anantharaj. Corresponds to variant rs33938574dbSNPEnsembl.1
Natural variantiVAR_00273013A → D in J-Paris 1/J-Aljezur. Corresponds to variant rs35615982dbSNPEnsembl.1
Natural variantiVAR_03815014A → P in Ravenscourt Park; causes alpha-thalassemia. Corresponds to variant rs35331909dbSNPEnsembl.1
Natural variantiVAR_00273115W → R in Evanston; O(2) affinity up. 2 PublicationsCorresponds to variant rs33964317dbSNPEnsembl.1
Natural variantiVAR_00273216G → R in Ottawa/Siam. Corresponds to variant rs35816645dbSNPEnsembl.1
Natural variantiVAR_00273317K → M in Harbin; slightly unstable. 1 PublicationCorresponds to variant rs35210126dbSNPEnsembl.1
Natural variantiVAR_00273417K → N in Beijing. Corresponds to variant rs33923844dbSNPEnsembl.1
Natural variantiVAR_00273519G → D in Al-Ain Abu Dhabi. 1 PublicationCorresponds to variant rs35993097dbSNPEnsembl.1
Natural variantiVAR_00273619G → R in Handsworth. Corresponds to variant rs34504387dbSNPEnsembl.1
Natural variantiVAR_00273720A → D in J-Kurosh. 1
Natural variantiVAR_00273820A → E in J-Tashikuergan. Corresponds to variant rs35628685dbSNPEnsembl.1
Natural variantiVAR_00273921H → Q in Le Lamentin. Corresponds to variant rs41525149dbSNPEnsembl.1
Natural variantiVAR_00274021H → R in Hobart. 1 PublicationCorresponds to variant rs33943087dbSNPEnsembl.1
Natural variantiVAR_00274122A → D in J-Nyanza. Corresponds to variant rs11548605dbSNPEnsembl.1
Natural variantiVAR_00274222A → P in Fontainebleau. Corresponds to variant rs34324664dbSNPEnsembl.1
Natural variantiVAR_00274323G → D in J-Medellin. Corresponds to variant rs34608326dbSNPEnsembl.1
Natural variantiVAR_00274424E → G in Reims; slightly unstable. 1 PublicationCorresponds to variant rs33939421dbSNPEnsembl.1
Natural variantiVAR_00274524E → K in Chad. Corresponds to variant rs281864819dbSNPEnsembl.1
Natural variantiVAR_00274625Y → H in Luxembourg; unstable. 1 PublicationCorresponds to variant rs281864821dbSNPEnsembl.1
Natural variantiVAR_00274727A → E in Shenyang; unstable. 1 PublicationCorresponds to variant rs281864822dbSNPEnsembl.1
Natural variantiVAR_02538727A → V in Campinas. 1 PublicationCorresponds to variant rs281864822dbSNPEnsembl.1
Natural variantiVAR_00274828E → D in Hekinan. Corresponds to variant rs281865556dbSNPEnsembl.1
Natural variantiVAR_00274928E → G in Fort Worth. Corresponds to variant rs281864823dbSNPEnsembl.1
Natural variantiVAR_00275028E → V in Spanish town. 1 PublicationCorresponds to variant rs281864823dbSNPEnsembl.1
Natural variantiVAR_00275131E → K in O-Padova. Corresponds to variant rs111033605dbSNPEnsembl.1
Natural variantiVAR_02500232R → K Causes alpha-thalassemia. 1 PublicationCorresponds to variant rs281864543dbSNPEnsembl.1
Natural variantiVAR_00275232R → S in Prato; unstable. 1 PublicationCorresponds to variant rs111033606dbSNPEnsembl.1
Natural variantiVAR_00275335L → R in Queens/Ogi. Corresponds to variant rs281864825dbSNPEnsembl.1
Natural variantiVAR_00275538P → PE in Catonsville. 1 Publication1
Natural variantiVAR_00275438P → R in Bourmedes. Corresponds to variant rs281864826dbSNPEnsembl.1
Natural variantiVAR_00275641K → M in Kanagawa; O(2) affinity up. 1 PublicationCorresponds to variant rs281864828dbSNPEnsembl.1
Natural variantiVAR_00275742T → S in Miyano; O(2) affinity up. 1 PublicationCorresponds to variant rs281860623dbSNPEnsembl.1
Natural variantiVAR_00275844F → L in Hirosaki; unstable. 1 PublicationCorresponds to variant rs41491146dbSNPEnsembl.1
Natural variantiVAR_00275945P → L in Milledgeville; O(2) affinity up. 1 PublicationCorresponds to variant rs41514946dbSNPEnsembl.1
Natural variantiVAR_00276045P → R in Kawachi; O(2) affinity up. 1 PublicationCorresponds to variant rs281864830dbSNPEnsembl.1
Natural variantiVAR_00276146H → Q in Bari. Corresponds to variant rs281860624dbSNPEnsembl.1
Natural variantiVAR_00276246H → R in Fort de France; O(2) affinity up. 1 PublicationCorresponds to variant rs281864831dbSNPEnsembl.1
Natural variantiVAR_00276348D → A in Cordele; unstable. 1 PublicationCorresponds to variant rs281864833dbSNPEnsembl.1
Natural variantiVAR_00276448D → G in Kokura; also in Umi/Michigan; unstable. 1 PublicationCorresponds to variant rs281864833dbSNPEnsembl.1
Natural variantiVAR_00276548D → H in Hasharon/Sinai; unstable. 1 PublicationCorresponds to variant rs281864834dbSNPEnsembl.1
Natural variantiVAR_00276648D → Y in Kurdistan. 1 PublicationCorresponds to variant rs281864834dbSNPEnsembl.1
Natural variantiVAR_00276749L → R in Montgomery. 1 PublicationCorresponds to variant rs41392146dbSNPEnsembl.1
Natural variantiVAR_00276850S → R in Savaria. Corresponds to variant rs41518249dbSNPEnsembl.1
Natural variantiVAR_00276951H → R in Aichi; slightly unstable. 1 PublicationCorresponds to variant rs281864835dbSNPEnsembl.1
Natural variantiVAR_00277052G → D in J-Abidjan. Corresponds to variant rs281864836dbSNPEnsembl.1
Natural variantiVAR_00277152G → R in Russ. Corresponds to variant rs281864837dbSNPEnsembl.1
Natural variantiVAR_00277254A → D in J-Rovigo; unstable. 1 PublicationCorresponds to variant rs281864838dbSNPEnsembl.1
Natural variantiVAR_00277355Q → R in Hikoshima/Shimonoseki. Corresponds to variant rs281864839dbSNPEnsembl.1
Natural variantiVAR_00277457K → R in Port Huron. 1 PublicationCorresponds to variant rs281864841dbSNPEnsembl.1
Natural variantiVAR_00277557K → T in Thailand. Corresponds to variant rs281864841dbSNPEnsembl.1
Natural variantiVAR_00277658G → R in L-Persian Gulf. Corresponds to variant rs281864843dbSNPEnsembl.1
Natural variantiVAR_02538859H → Q in Boghe. 1 PublicationCorresponds to variant rs41378349dbSNPEnsembl.1
Natural variantiVAR_00277759H → Y in M-Boston/M-Osaka; O(2) affinity down. 1 PublicationCorresponds to variant rs281864845dbSNPEnsembl.1
Natural variantiVAR_00277860G → D in Adana; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant rs28928878dbSNPEnsembl.1
Natural variantiVAR_00277960G → V in Tottori; unstable. 1 PublicationCorresponds to variant rs281864846dbSNPEnsembl.1
Natural variantiVAR_00278061K → N in Zambia. Corresponds to variant rs28928887dbSNPEnsembl.1
Natural variantiVAR_00278161Missing in Clinic; unstable; causes alpha-thalassemia. 1 Publication1
Natural variantiVAR_00278262K → N in J-Buda. 1 PublicationCorresponds to variant rs33985574dbSNPEnsembl.1
Natural variantiVAR_00278362K → T in J-Anatolia. Corresponds to variant rs281865558dbSNPEnsembl.1
Natural variantiVAR_00278463V → M in Evans; unstable. 2 PublicationsCorresponds to variant rs41515649dbSNPEnsembl.1
Natural variantiVAR_06640163Missing in HBH; hemoglobin Aghia Sophia. 1 Publication1
Natural variantiVAR_00278564A → D in Pontoise; unstable. 1 PublicationCorresponds to variant rs281864848dbSNPEnsembl.1
Natural variantiVAR_00278665D → Y in Persepolis. Corresponds to variant rs281864849dbSNPEnsembl.1
Natural variantiVAR_00278769N → K in G-Philadelphia. 1 PublicationCorresponds to variant rs1060339dbSNPEnsembl.1
Natural variantiVAR_00278872A → E in J-Habana. Corresponds to variant rs281864853dbSNPEnsembl.1
Natural variantiVAR_00278972A → V in Ozieri. Corresponds to variant rs281864853dbSNPEnsembl.1
Natural variantiVAR_00279073H → R in Daneskgah-Teheran. Corresponds to variant rs281864854dbSNPEnsembl.1
Natural variantiVAR_00279175D → A in Lille. Corresponds to variant rs281864856dbSNPEnsembl.1
Natural variantiVAR_00279275D → G in Chapel Hill. Corresponds to variant rs33921047dbSNPEnsembl.1
Natural variantiVAR_00279375D → N in G-Pest. 1 PublicationCorresponds to variant rs281864857dbSNPEnsembl.1
Natural variantiVAR_00279476D → A in Duan. Corresponds to variant rs33991223dbSNPEnsembl.1
Natural variantiVAR_00279576D → H in Q-Iran. Corresponds to variant rs281864858dbSNPEnsembl.1
Natural variantiVAR_00279677M → K in Noko. Corresponds to variant rs281864860dbSNPEnsembl.1
Natural variantiVAR_00279777M → T in Aztec. Corresponds to variant rs281864860dbSNPEnsembl.1
Natural variantiVAR_00279878P → R in Guizhou. Corresponds to variant rs281864861dbSNPEnsembl.1
Natural variantiVAR_00279979N → H in Davenport. 1 PublicationCorresponds to variant rs111033602dbSNPEnsembl.1
Natural variantiVAR_00280079N → K in Stanleyville-2. Corresponds to variant rs281860607dbSNPEnsembl.1
Natural variantiVAR_01266280A → G in Singapore. Corresponds to variant rs281860603dbSNPEnsembl.1
Natural variantiVAR_00280181L → R in Ann Arbor; unstable. 1 PublicationCorresponds to variant rs281864863dbSNPEnsembl.1
Natural variantiVAR_00280282S → C in Nigeria. Corresponds to variant rs281864864dbSNPEnsembl.1
Natural variantiVAR_00280383A → D in Garden State. Corresponds to variant rs281864865dbSNPEnsembl.1
Natural variantiVAR_00280485S → R in Etobicoke; O(2) affinity up. 1 PublicationCorresponds to variant rs281860612dbSNPEnsembl.1
Natural variantiVAR_00280586D → V in Inkster; O(2) affinity up. 1 PublicationCorresponds to variant rs41331747dbSNPEnsembl.1
Natural variantiVAR_00280686D → Y in Atago; O(2) affinity up. 1 PublicationCorresponds to variant rs281864777dbSNPEnsembl.1
Natural variantiVAR_00280787L → R in Moabit; unstable. 1 PublicationCorresponds to variant rs281864866dbSNPEnsembl.1
Natural variantiVAR_00280888H → N in Auckland; unstable. 1 PublicationCorresponds to variant rs281864868dbSNPEnsembl.1
Natural variantiVAR_00280988H → R in Iwata; unstable. Corresponds to variant rs281864867dbSNPEnsembl.1
Natural variantiVAR_00281089A → S in Loire; O(2) affinity up. 1 PublicationCorresponds to variant rs281864869dbSNPEnsembl.1
Natural variantiVAR_00281191K → M in Handa; O(2) affinity up. 1 PublicationCorresponds to variant rs281864873dbSNPEnsembl.1
Natural variantiVAR_04927292L → F.Corresponds to variant rs17407508dbSNPEnsembl.1
Natural variantiVAR_00281292L → P in Port Phillip; unstable. 1 PublicationCorresponds to variant rs17407508dbSNPEnsembl.1
Natural variantiVAR_00281393R → Q in J-Cape Town; O(2) affinity up. 2 PublicationsCorresponds to variant rs281864875dbSNPEnsembl.1
Natural variantiVAR_02077593R → W in Cemenelum; O(2) affinity up. 1 PublicationCorresponds to variant rs281864876dbSNPEnsembl.1
Natural variantiVAR_02538995D → A in Bassett; markedly reduced oxygen affinity. 1 PublicationCorresponds to variant rs281864879dbSNPEnsembl.1
Natural variantiVAR_00281495D → Y in Setif; unstable. 1 PublicationCorresponds to variant rs281864878dbSNPEnsembl.1
Natural variantiVAR_00281596P → A in Denmark Hill; O(2) affinity up. 1 PublicationCorresponds to variant rs281864881dbSNPEnsembl.1
Natural variantiVAR_00281696P → T in Godavari; O(2) affinity up. 1 PublicationCorresponds to variant rs281864881dbSNPEnsembl.1
Natural variantiVAR_00281798N → K in Dallas; O(2) affinity up. 1 PublicationCorresponds to variant rs41338947dbSNPEnsembl.1
Natural variantiVAR_002818100K → E in Turriff. 1 PublicationCorresponds to variant rs281864882dbSNPEnsembl.1
Natural variantiVAR_002819103S → R in Manitoba; slightly unstable. 1 PublicationCorresponds to variant rs41344646dbSNPEnsembl.1
Natural variantiVAR_002820104H → R in Contaldo; unstable. 1 PublicationCorresponds to variant rs63750752dbSNPEnsembl.1
Natural variantiVAR_025390104H → Y in Charolles. 1 PublicationCorresponds to variant rs63750073dbSNPEnsembl.1
Natural variantiVAR_002821110L → R in Suan-Dok; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant rs41479844dbSNPEnsembl.1
Natural variantiVAR_002822111A → D in Petah Tikva; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant rs28928889dbSNPEnsembl.1
Natural variantiVAR_002823113H → D in Hopkins-II; unstable. 1 PublicationCorresponds to variant rs281864885dbSNPEnsembl.1
Natural variantiVAR_002824114L → H in Twin Peaks. Corresponds to variant rs281860618dbSNPEnsembl.1
Natural variantiVAR_002825115P → L in Nouakchott. Corresponds to variant rs267607269dbSNPEnsembl.1
Natural variantiVAR_002826115P → R in Chiapas. Corresponds to variant rs267607269dbSNPEnsembl.1
Natural variantiVAR_002827115P → S in Melusine. 1 PublicationCorresponds to variant rs281864887dbSNPEnsembl.1
Natural variantiVAR_002828116A → D in J-Tongariki. Corresponds to variant rs281864888dbSNPEnsembl.1
Natural variantiVAR_002829117E → A in Ube-4. Corresponds to variant rs281864946dbSNPEnsembl.1
Natural variantiVAR_002830117E → EHLPAE in Zaire. 1 Publication1
Natural variantiVAR_002831118F → FI in Phnom Penh. 1 Publication1
Natural variantiVAR_002832119T → TEFT in Grady. 1 Publication1
Natural variantiVAR_002833121A → E in J-Meerut/J-Birmingham. 1 PublicationCorresponds to variant rs36075744dbSNPEnsembl.1
Natural variantiVAR_002834122V → M in Owari. Corresponds to variant rs35187567dbSNPEnsembl.1
Natural variantiVAR_002835123H → Q in Westmead. 1 PublicationCorresponds to variant rs41479347dbSNPEnsembl.1
Natural variantiVAR_002836126L → P in Quong Sze; causes alpha-thalassemia. Corresponds to variant rs41397847dbSNPEnsembl.1
Natural variantiVAR_025391126L → R in Plasencia; family with moderate microcytosis and hypochromia. 1 PublicationCorresponds to variant rs41397847dbSNPEnsembl.1
Natural variantiVAR_025392127D → G in West One. 1 PublicationCorresponds to variant rs33957766dbSNPEnsembl.1
Natural variantiVAR_002837127D → V in Fukutomi; O(2) affinity up. 1 PublicationCorresponds to variant rs33957766dbSNPEnsembl.1
Natural variantiVAR_002838127D → Y in Montefiore; O(2) affinity up. 1 PublicationCorresponds to variant rs33933481dbSNPEnsembl.1
Natural variantiVAR_002839128K → N in Jackson. Corresponds to variant rs33972894dbSNPEnsembl.1
Natural variantiVAR_002840130L → P in Tunis-Bizerte; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant rs281864889dbSNPEnsembl.1
Natural variantiVAR_002842131A → D in Yuda; O(2) affinity down. 1 PublicationCorresponds to variant rs41528545dbSNPEnsembl.1
Natural variantiVAR_002841131A → P in Sun Prairie; unstable. 1 PublicationCorresponds to variant rs41529844dbSNPEnsembl.1
Natural variantiVAR_002843132S → P in Questembert; highly unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant rs63751417dbSNPEnsembl.1
Natural variantiVAR_002844134S → R in Val de Marne; O(2) affinity up. 1 PublicationCorresponds to variant rs41514946dbSNPEnsembl.1
Natural variantiVAR_002845136V → E in Pavie. Corresponds to variant rs63749809dbSNPEnsembl.1
Natural variantiVAR_002846137L → M in Chicago. Corresponds to variant rs41364652dbSNPEnsembl.1
Natural variantiVAR_002847137L → P in Bibba; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant rs41469945dbSNPEnsembl.1
Natural variantiVAR_035242137L → R in Toyama. 1 PublicationCorresponds to variant rs41469945dbSNPEnsembl.1
Natural variantiVAR_002848139S → P in Attleboro; O(2) affinity up. 1 PublicationCorresponds to variant rs63750801dbSNPEnsembl.1
Natural variantiVAR_002849140K → E in Hanamaki; O(2) affinity up. 1 PublicationCorresponds to variant rs41361546dbSNPEnsembl.1
Natural variantiVAR_002850140K → T in Tokoname; O(2) affinity up. 1 PublicationCorresponds to variant rs56348461dbSNPEnsembl.1
Natural variantiVAR_002851141Y → H in Rouen/Ethiopia; O(2) affinity up. 2 PublicationsCorresponds to variant rs55870409dbSNPEnsembl.1
Natural variantiVAR_002852142R → C in Nunobiki; O(2) affinity up. 1 PublicationCorresponds to variant rs63750134dbSNPEnsembl.1
Natural variantiVAR_002854142R → H in Suresnes; O(2) affinity up. 1 PublicationCorresponds to variant rs63751282dbSNPEnsembl.1
Natural variantiVAR_002853142R → L in Legnano; O(2) affinity up. 1 PublicationCorresponds to variant rs63751282dbSNPEnsembl.1
Natural variantiVAR_002855142R → P in Singapore. Corresponds to variant rs63751282dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J00153 Genomic DNA. Translation: AAB59407.1.
J00153 Genomic DNA. Translation: AAB59408.1.
V00491 Genomic DNA. Translation: CAA23750.1.
V00493 mRNA. Translation: CAA23752.1.
V00488 Genomic DNA. Translation: CAA23748.1.
V00516 Genomic DNA. Translation: CAA23774.1.
AF230076 Genomic DNA. Translation: AAF72612.1.
AF525460 Genomic DNA. Translation: AAM83102.1.
DQ431198 Genomic DNA. Translation: ABD95910.1.
DQ431198 Genomic DNA. Translation: ABD95911.1.
AF097635 mRNA. Translation: AAC72839.1.
AF105974 mRNA. Translation: AAC97373.1.
AF349571 mRNA. Translation: AAK37554.1.
AF536204 Genomic DNA. Translation: AAN04486.1.
DQ499017 Genomic DNA. Translation: ABF56144.1.
DQ499018 Genomic DNA. Translation: ABF56145.1.
AK223392 mRNA. Translation: BAD97112.1. Different initiation.
AE006462 Genomic DNA. Translation: AAK61215.1.
AE006462 Genomic DNA. Translation: AAK61216.1.
Z84721 Genomic DNA. Translation: CAB06554.1.
Z84721 Genomic DNA. Translation: CAB06555.1.
BC005931 mRNA. Translation: AAH05931.1.
BC008572 mRNA. Translation: AAH08572.1.
BC032122 mRNA. Translation: AAH32122.1.
BC050661 mRNA. Translation: AAH50661.1.
BC101846 mRNA. Translation: AAI01847.1.
BC101848 mRNA. Translation: AAI01849.1.
CCDSiCCDS10398.1.
CCDS10399.1.
PIRiA90807. HAHU.
C93303. HACZP.
I58217. HACZ.
RefSeqiNP_000508.1. NM_000517.4.
NP_000549.1. NM_000558.4.
UniGeneiHs.449630.
Hs.654744.

Genome annotation databases

EnsembliENST00000251595; ENSP00000251595; ENSG00000188536.
ENST00000320868; ENSP00000322421; ENSG00000206172.
GeneIDi3039.
3040.
KEGGihsa:3039.
hsa:3040.
UCSCiuc002cfv.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

HbVar

Human hemoglobin variants and thalassemias

HbVar

Human hemoglobin variants and thalassemias

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Hemoglobin entry

Protein Spotlight

Journey into a tiny world - Issue 84 of July 2007

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J00153 Genomic DNA. Translation: AAB59407.1.
J00153 Genomic DNA. Translation: AAB59408.1.
V00491 Genomic DNA. Translation: CAA23750.1.
V00493 mRNA. Translation: CAA23752.1.
V00488 Genomic DNA. Translation: CAA23748.1.
V00516 Genomic DNA. Translation: CAA23774.1.
AF230076 Genomic DNA. Translation: AAF72612.1.
AF525460 Genomic DNA. Translation: AAM83102.1.
DQ431198 Genomic DNA. Translation: ABD95910.1.
DQ431198 Genomic DNA. Translation: ABD95911.1.
AF097635 mRNA. Translation: AAC72839.1.
AF105974 mRNA. Translation: AAC97373.1.
AF349571 mRNA. Translation: AAK37554.1.
AF536204 Genomic DNA. Translation: AAN04486.1.
DQ499017 Genomic DNA. Translation: ABF56144.1.
DQ499018 Genomic DNA. Translation: ABF56145.1.
AK223392 mRNA. Translation: BAD97112.1. Different initiation.
AE006462 Genomic DNA. Translation: AAK61215.1.
AE006462 Genomic DNA. Translation: AAK61216.1.
Z84721 Genomic DNA. Translation: CAB06554.1.
Z84721 Genomic DNA. Translation: CAB06555.1.
BC005931 mRNA. Translation: AAH05931.1.
BC008572 mRNA. Translation: AAH08572.1.
BC032122 mRNA. Translation: AAH32122.1.
BC050661 mRNA. Translation: AAH50661.1.
BC101846 mRNA. Translation: AAI01847.1.
BC101848 mRNA. Translation: AAI01849.1.
CCDSiCCDS10398.1.
CCDS10399.1.
PIRiA90807. HAHU.
C93303. HACZP.
I58217. HACZ.
RefSeqiNP_000508.1. NM_000517.4.
NP_000549.1. NM_000558.4.
UniGeneiHs.449630.
Hs.654744.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A00X-ray2.00A/C2-142[»]
1A01X-ray1.80A/C2-142[»]
1A0UX-ray2.14A/C2-142[»]
1A0ZX-ray2.00A/C2-142[»]
1A3NX-ray1.80A/C2-142[»]
1A3OX-ray1.80A/C2-142[»]
1A9WX-ray2.90A/C2-142[»]
1ABWX-ray2.00A1-142[»]
1ABYX-ray2.60A1-142[»]
1AJ9X-ray2.20A2-142[»]
1B86X-ray2.50A/C2-142[»]
1BABX-ray1.50A/C1-142[»]
1BBBX-ray1.70A/C2-142[»]
1BIJX-ray2.30A/C2-142[»]
1BUWX-ray1.90A/C2-142[»]
1BZ0X-ray1.50A/C2-142[»]
1BZ1X-ray1.59A/C1-142[»]
1BZZX-ray1.59A/C2-142[»]
1C7BX-ray1.80A/C2-142[»]
1C7CX-ray1.80A2-142[»]
1C7DX-ray1.80A2-142[»]
1CLSX-ray1.90A/C2-142[»]
1CMYX-ray3.00A/C2-142[»]
1COHX-ray2.90A/C2-142[»]
1DKEX-ray2.10A/C2-142[»]
1DXTX-ray1.70A/C2-142[»]
1DXUX-ray1.70A/C2-142[»]
1DXVX-ray1.70A/C2-142[»]
1FDHX-ray2.50A/B2-142[»]
1FN3X-ray2.48A/C2-142[»]
1G9VX-ray1.85A/C2-142[»]
1GBUX-ray1.80A/C2-142[»]
1GBVX-ray2.00A/C2-142[»]
1GLIX-ray2.50A/C3-142[»]
1GZXX-ray2.10A/C2-142[»]
1HABX-ray2.30A/C2-142[»]
1HACX-ray2.60A/C2-142[»]
1HBAX-ray2.10A/C2-142[»]
1HBBX-ray1.90A/C2-142[»]
1HBSX-ray3.00A/C/E/G2-142[»]
1HCOX-ray2.70A2-142[»]
1HDBX-ray2.20A/C2-142[»]
1HGAX-ray2.10A/C2-142[»]
1HGBX-ray2.10A/C2-142[»]
1HGCX-ray2.10A/C2-142[»]
1HHOX-ray2.10A2-142[»]
1IRDX-ray1.25A2-142[»]
1J3YX-ray1.55A/C/E/G2-142[»]
1J3ZX-ray1.60A/C/E/G2-142[»]
1J40X-ray1.45A/C/E/G2-142[»]
1J41X-ray1.45A/C/E/G2-142[»]
1J7SX-ray2.20A/C2-142[»]
1J7WX-ray2.00A/C2-142[»]
1J7YX-ray1.70A/C2-142[»]
1JY7X-ray3.20A/C/P/R/U/W2-142[»]
1K0YX-ray1.87A/C2-142[»]
1K1KX-ray2.00A2-142[»]
1KD2X-ray1.87A/C2-142[»]
1LFLX-ray2.70A/C/P/R2-142[»]
1LFQX-ray2.60A2-142[»]
1LFTX-ray2.60A2-142[»]
1LFVX-ray2.80A2-142[»]
1LFYX-ray3.30A2-142[»]
1LFZX-ray3.10A2-142[»]
1LJWX-ray2.16A2-142[»]
1M9PX-ray2.10A/C2-142[»]
1MKOX-ray2.18A/C2-142[»]
1NEJX-ray2.10A/C2-142[»]
1NIHX-ray2.60A/C2-142[»]
1NQPX-ray1.73A/C2-142[»]
1O1IX-ray2.30A2-142[»]
1O1JX-ray1.90A2-142[»]
1O1KX-ray2.00A/C3-142[»]
1O1LX-ray1.80A2-142[»]
1O1MX-ray1.85A2-142[»]
1O1NX-ray1.80A2-142[»]
1O1OX-ray1.80A/C2-142[»]
1O1PX-ray1.80A2-142[»]
1QI8X-ray1.80A/C3-142[»]
1QSHX-ray1.70A/C2-142[»]
1QSIX-ray1.70A/C2-142[»]
1QXDX-ray2.25A/C2-142[»]
1QXEX-ray1.85A/C2-142[»]
1R1XX-ray2.15A2-142[»]
1R1YX-ray1.80A/C2-142[»]
1RPSX-ray2.11A/C2-142[»]
1RQ3X-ray1.91A/C2-142[»]
1RQ4X-ray2.11A/C2-142[»]
1RQAX-ray2.11A/C2-142[»]
1RVWX-ray2.50A2-142[»]
1SDKX-ray1.80A/C2-142[»]
1SDLX-ray1.80A/C2-142[»]
1SHRX-ray1.88A/C2-142[»]
1SI4X-ray2.20A/C2-142[»]
1THBX-ray1.50A/C2-142[»]
1UIWX-ray1.50A/C/E/G2-142[»]
1VWTX-ray1.90A/C2-142[»]
1XXTX-ray1.91A/C2-142[»]
1XY0X-ray1.99A/C2-142[»]
1XYEX-ray2.13A/C3-142[»]
1XZ2X-ray1.90A/C2-142[»]
1XZ4X-ray2.00A/C3-142[»]
1XZ5X-ray2.11A/C2-142[»]
1XZ7X-ray1.90A/C2-142[»]
1XZUX-ray2.16A/C2-142[»]
1XZVX-ray2.11A/C2-142[»]
1Y01X-ray2.80B1-142[»]
1Y09X-ray2.25A/C2-142[»]
1Y0AX-ray2.22A/C2-140[»]
1Y0CX-ray2.30A/C2-140[»]
1Y0DX-ray2.10A/C2-141[»]
1Y0TX-ray2.14A/C2-142[»]
1Y0WX-ray2.14A/C2-142[»]
1Y22X-ray2.16A/C2-142[»]
1Y2ZX-ray2.07A/C2-142[»]
1Y31X-ray2.13A/C2-142[»]
1Y35X-ray2.12A/C2-142[»]
1Y45X-ray2.00A/C2-142[»]
1Y46X-ray2.22A/C2-142[»]
1Y4BX-ray2.10A/C2-142[»]
1Y4FX-ray2.00A/C2-142[»]
1Y4GX-ray1.91A/C2-142[»]
1Y4PX-ray1.98A/C2-142[»]
1Y4QX-ray2.11A/C2-142[»]
1Y4RX-ray2.22A/C2-142[»]
1Y4VX-ray1.84A/C2-142[»]
1Y5FX-ray2.14A/C2-142[»]
1Y5JX-ray2.03A/C2-142[»]
1Y5KX-ray2.20A/C2-142[»]
1Y7CX-ray2.10A/C2-142[»]
1Y7DX-ray1.90A/C2-142[»]
1Y7GX-ray2.10A/C2-142[»]
1Y7ZX-ray1.98A/C2-142[»]
1Y83X-ray1.90A/C2-142[»]
1Y85X-ray2.13A/C2-142[»]
1Y8WX-ray2.90A/C2-142[»]
1YDZX-ray3.30A/C2-140[»]
1YE0X-ray2.50A/C2-142[»]
1YE1X-ray4.50A/C2-142[»]
1YE2X-ray1.80A/C2-142[»]
1YENX-ray2.80A/C2-142[»]
1YEOX-ray2.22A/C2-142[»]
1YEQX-ray2.75A/C2-142[»]
1YEUX-ray2.12A/C2-142[»]
1YEVX-ray2.11A/C2-142[»]
1YFFX-ray2.40A/C/E/G2-142[»]
1YG5X-ray2.70A/C2-142[»]
1YGDX-ray2.73A/C2-142[»]
1YGFX-ray2.70A/C2-142[»]
1YH9X-ray2.20A/C2-142[»]
1YHEX-ray2.10A/C2-142[»]
1YHRX-ray2.60A/C2-142[»]
1YIEX-ray2.40A/C2-142[»]
1YIHX-ray2.00A/C2-142[»]
1YVQX-ray1.80A/C2-142[»]
1YVTX-ray1.80A2-142[»]
1YZIX-ray2.07A2-142[»]
1Z8UX-ray2.40B/D1-142[»]
2D5ZX-ray1.45A/C2-142[»]
2D60X-ray1.70A/C2-142[»]
2DN1X-ray1.25A2-142[»]
2DN2X-ray1.25A/C2-142[»]
2DN3X-ray1.25A2-142[»]
2DXMneutron diffraction2.10A/C2-142[»]
2H35NMR-A/C2-142[»]
2HBCX-ray2.10A2-142[»]
2HBDX-ray2.20A2-142[»]
2HBEX-ray2.00A2-142[»]
2HBFX-ray2.20A2-142[»]
2HBSX-ray2.05A/C/E/G2-142[»]
2HCOX-ray2.70A2-142[»]
2HHBX-ray1.74A/C2-142[»]
2HHDX-ray2.20A/C2-142[»]
2HHEX-ray2.20A/C2-142[»]
2M6ZNMR-A/C2-142[»]
2W6VX-ray1.80A/C2-142[»]
2W72X-ray1.07A2-142[»]
C3-142[»]
2YRSX-ray2.30A/C/I/M2-142[»]
3B75X-ray2.30A/C/E/G/S2-142[»]
3D17X-ray2.80A/C2-142[»]
3D7OX-ray1.80A2-142[»]
3DUTX-ray1.55A/C2-142[»]
3HHBX-ray1.74A/C2-142[»]
3HXNX-ray2.00A/C2-142[»]
3IA3X-ray3.20B/D1-142[»]
3IC0X-ray1.80A/C2-142[»]
3IC2X-ray2.40A/C2-142[»]
3KMFneutron diffraction2.00A/E2-142[»]
3NL7X-ray1.80A2-142[»]
3NMMX-ray1.60A/C2-142[»]
3ODQX-ray3.10A/C2-142[»]
3ONZX-ray2.09A2-142[»]
3OO4X-ray1.90A2-142[»]
3OO5X-ray2.10A2-142[»]
3OVUX-ray2.83C2-142[»]
3P5QX-ray2.00A2-142[»]
3QJBX-ray1.80A2-142[»]
3QJCX-ray2.00A2-142[»]
3QJDX-ray1.56A/C2-142[»]
3QJEX-ray1.80A/C2-142[»]
3R5IX-ray2.20A/C2-142[»]
3S48X-ray3.05C/D2-142[»]
3S65X-ray1.80A/C2-142[»]
3S66X-ray1.40A2-142[»]
3SZKX-ray3.01A/D2-142[»]
3WCPX-ray1.94A/C2-142[»]
3WHMX-ray1.85A/E2-142[»]
4FC3X-ray2.26A2-142[»]
4HHBX-ray1.74A/C2-142[»]
4IJ2X-ray4.24A/C2-142[»]
4L7YX-ray1.80A/C2-142[»]
4M4AX-ray2.05A2-142[»]
4M4BX-ray2.00A2-142[»]
4MQCX-ray2.20A2-142[»]
4MQGX-ray1.68A2-142[»]
4MQHX-ray2.50A2-140[»]
4MQIX-ray1.92A2-141[»]
4MQJX-ray1.80A/C/E/G2-142[»]
4MQKX-ray2.24A/C/E/G2-142[»]
4N7NX-ray2.75A/C/E/G/I/K2-142[»]
4N7OX-ray2.50A/C/E/G/I/K2-142[»]
4N7PX-ray2.81A/C/E/G/I/K2-142[»]
4N8TX-ray1.90A2-142[»]
4NI0X-ray2.15A2-142[»]
4NI1X-ray1.90A2-142[»]
4ROLX-ray1.70A/C2-142[»]
4ROMX-ray1.90A/C2-142[»]
4WJGX-ray3.10A/F/K/P/U/Z2-142[»]
4X0LX-ray2.05A2-142[»]
4XS0X-ray2.55A2-142[»]
5E29X-ray1.85A/C2-142[»]
5E6EX-ray1.76A2-142[»]
5E83X-ray1.80A/C2-142[»]
5EE4X-ray2.30C/E2-142[»]
5HU6X-ray2.90A2-142[»]
5JDOX-ray3.20C2-142[»]
E2-141[»]
5KDQX-ray2.15A/C3-142[»]
5SW7X-ray1.85A2-142[»]
6HBWX-ray2.00A/C2-142[»]
ProteinModelPortaliP69905.
SMRiP69905.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109289. 22 interactors.
109290. 38 interactors.
DIPiDIP-35199N.
IntActiP69905. 26 interactors.
MINTiMINT-1519936.
STRINGi9606.ENSP00000322421.

Chemistry databases

ChEMBLiCHEMBL2887.
DrugBankiDB00893. Iron Dextran.
DB00358. Mefloquine.

Protein family/group databases

TCDBi1.A.107.1.1. the pore-forming globin (globin) family.

PTM databases

iPTMnetiP69905.
PhosphoSitePlusiP69905.

Polymorphism and mutation databases

BioMutaiHBA1.
DMDMi57013850.

2D gel databases

DOSAC-COBS-2DPAGEP69905.
REPRODUCTION-2DPAGEIPI00410714.
SWISS-2DPAGEP69905.
UCD-2DPAGEP01922.
P69905.

Proteomic databases

EPDiP69905.
MaxQBiP69905.
PaxDbiP69905.
PeptideAtlasiP69905.
PRIDEiP69905.
TopDownProteomicsiP69905.

Protocols and materials databases

DNASUi3039.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251595; ENSP00000251595; ENSG00000188536.
ENST00000320868; ENSP00000322421; ENSG00000206172.
GeneIDi3039.
3040.
KEGGihsa:3039.
hsa:3040.
UCSCiuc002cfv.4. human.

Organism-specific databases

CTDi3039.
3040.
DisGeNETi3039.
3040.
GeneCardsiHBA1.
HBA2.
GeneReviewsiHBA1.
HBA2.
HGNCiHGNC:4823. HBA1.
HGNC:4824. HBA2.
HPAiCAB032534.
CAB038417.
HPA043780.
MalaCardsiHBA1.
HBA2.
MIMi140700. phenotype.
141800. gene+phenotype.
141850. gene.
141860. gene.
604131. phenotype.
613978. phenotype.
neXtProtiNX_P69905.
OpenTargetsiENSG00000188536.
ENSG00000206172.
Orphaneti98791. Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16.
330041. Autosomal dominant methemoglobinemia.
163596. Hb Bart's hydrops fetalis.
93616. Hemoglobin H disease.
PharmGKBiPA29199.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3378. Eukaryota.
COG1018. LUCA.
GeneTreeiENSGT00760000119197.
HOVERGENiHBG009709.
InParanoidiP69905.
KOiK13822.
OMAiDKFLCAV.
OrthoDBiEOG091G0S0X.
PhylomeDBiP69905.
TreeFamiTF332328.

Enzyme and pathway databases

BioCyciZFISH:G66-30907-MONOMER.
ReactomeiR-HSA-1237044. Erythrocytes take up carbon dioxide and release oxygen.
R-HSA-1247673. Erythrocytes take up oxygen and release carbon dioxide.
R-HSA-2168880. Scavenging of heme from plasma.

Miscellaneous databases

ChiTaRSiHBA1. human.
HBA2. human.
EvolutionaryTraceiP69905.
GeneWikiiHBA2.
Hemoglobin,_alpha_1.
Hemoglobin,_alpha_2.
PMAP-CutDBP69905.
PROiP69905.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188536.
CleanExiHS_HBA1.
HS_HBA2.
ExpressionAtlasiP69905. baseline and differential.
GenevisibleiP69905. HS.

Family and domain databases

CDDicd08927. Hb-alpha_like. 1 hit.
Gene3Di1.10.490.10. 1 hit.
InterProiIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin/Proto.
IPR002338. Haemoglobin_a-typ.
IPR002339. Haemoglobin_pi.
[Graphical view]
PfamiPF00042. Globin. 1 hit.
[Graphical view]
PRINTSiPR00612. ALPHAHAEM.
PR00815. PIHAEM.
SUPFAMiSSF46458. SSF46458. 1 hit.
PROSITEiPS01033. GLOBIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHBA_HUMAN
AccessioniPrimary (citable) accession number: P69905
Secondary accession number(s): P01922
, Q1HDT5, Q3MIF5, Q53F97, Q96KF1, Q9NYR7, Q9UCM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 156 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

Miscellaneous

Gives blood its red color.

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.