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Protein

Hemoglobin subunit alpha

Gene

HBA1

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

Functioni

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

Miscellaneous

Gives blood its red color.

Sites

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processOxygen transport, Transport
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

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
SIGNORiP69905

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

EuPathDBiHostDB:ENSG00000188536.12
HostDB:ENSG00000206172.8
HGNCiHGNC:4823 HBA1
HGNC:4824 HBA2
MIMi141800 gene+phenotype
141850 gene
141860 gene
neXtProtiNX_P69905

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
GeneReviewsiHBA1
HBA2
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
DrugBankiDB07427 2-[(2-methoxy-5-methylphenoxy)methyl]pyridine
DB07428 4-[(5-methoxy-2-methylphenoxy)methyl]pyridine
DB02126 4-Carboxycinnamic Acid
DB00893 Iron Dextran
DB09146 Iron saccharate
DB00358 Mefloquine
DB07645 SEBACIC ACID

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) lysine; alternate1 Publication1
Modified residuei9PhosphothreonineCombined sources1
Modified residuei12N6-succinyllysineBy similarity1
Modified residuei17N6-acetyllysine; alternateCombined sources1
Modified residuei17N6-succinyllysine; alternateBy similarity1
Glycosylationi17N-linked (Glc) (glycation) lysine; alternate1 Publication1
Modified residuei25PhosphotyrosineCombined sources1
Modified residuei36PhosphoserineCombined sources1
Modified residuei41N6-succinyllysine; alternateBy similarity1
Glycosylationi41N-linked (Glc) (glycation) lysine; alternate1 Publication1
Modified residuei50PhosphoserineCombined sources1
Glycosylationi62N-linked (Glc) (glycation) lysine1 Publication1
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 Publication1
Sitei57Not glycated1 Publication1
Sitei61Not glycated1 Publication1
Sitei91Not glycated1 Publication1
Sitei100Not glycated1 Publication1

Keywords - PTMi

Acetylation, Glycation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP69905
MaxQBiP69905
PaxDbiP69905
PeptideAtlasiP69905
PRIDEiP69905
ProteomicsDBi12639
57547
TopDownProteomicsiP69905

2D gel databases

DOSAC-COBS-2DPAGEiP69905
REPRODUCTION-2DPAGEiIPI00410714
SWISS-2DPAGEiP69905
UCD-2DPAGEiP69905

PTM databases

CarbonylDBiP69905
iPTMnetiP69905
PhosphoSitePlusiP69905

Miscellaneous databases

PMAP-CutDBiP69905

Expressioni

Tissue specificityi

Red blood cells.

Gene expression databases

BgeeiENSG00000188536 Expressed in 91 organ(s), highest expression level in blood
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

Protein-protein interaction databases

BioGridi109289, 25 interactors
109290, 47 interactors
ComplexPortaliCPX-2158 Hemoglobin HbA complex
CPX-2419 Hemoglobin HbA2 complex
CPX-2927 Hemoglobin E complex
CPX-2932 Hemoglobin HbF Variant 1 complex
CPX-2933 Hemoglobin HbF Variant 2 complex
DIPiDIP-35199N
IntActiP69905, 35 interactors
MINTiP69905
STRINGi9606.ENSP00000322421

Structurei

Secondary structure

1142
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
InterProiView protein in InterPro
IPR000971 Globin
IPR009050 Globin-like_sf
IPR012292 Globin/Proto
IPR002338 Haemoglobin_a-typ
IPR002339 Haemoglobin_pi
PfamiView protein in Pfam
PF00042 Globin, 1 hit
PRINTSiPR00612 ALPHAHAEM
PR00815 PIHAEM
SUPFAMiSSF46458 SSF46458, 1 hit
PROSITEiView protein in PROSITE
PS01033 GLOBIN, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1N2G3V1N2_HUMAN
HCG1745306, isoform CRA_a
HBA2 HBA1, hCG_1745306
110Annotation score:
A0A2R8Y7C0A0A2R8Y7C0_HUMAN
Hemoglobin subunit alpha
HBA2
134Annotation score:

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 dbSNP:rs33981821Ensembl.1
Natural variantiVAR_0027203L → R in ChongQing; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs36030576EnsemblClinVar.1
Natural variantiVAR_0027216A → D in J-Toronto. Corresponds to variant dbSNP:rs34090856EnsemblClinVar.1
Natural variantiVAR_0027226A → P in Karachi. Corresponds to variant dbSNP:rs34751764EnsemblClinVar.1
Natural variantiVAR_0027237D → A in Sawara; O(2) affinity up. 2 PublicationsCorresponds to variant dbSNP:rs33986902EnsemblClinVar.1
Natural variantiVAR_0027247D → G in Swan River. 1 PublicationCorresponds to variant dbSNP:rs281864805Ensembl.1
Natural variantiVAR_0027257D → N in Dunn; O(2) affinity up. 2 PublicationsCorresponds to variant dbSNP:rs33961916EnsemblClinVar.1
Natural variantiVAR_0027267D → V in Ferndown; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864805Ensembl.1
Natural variantiVAR_0027277D → Y in Woodville; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864806Ensembl.1
Natural variantiVAR_0027288K → E in Kurosaki. 1 PublicationCorresponds to variant dbSNP:rs34817956EnsemblClinVar.1
Natural variantiVAR_03814910N → T in Broomfield. Corresponds to variant dbSNP:rs281860608Ensembl.1
Natural variantiVAR_00272912K → E in Anantharaj. Corresponds to variant dbSNP:rs33938574EnsemblClinVar.1
Natural variantiVAR_00273013A → D in J-Paris 1/J-Aljezur. Corresponds to variant dbSNP:rs35615982EnsemblClinVar.1
Natural variantiVAR_03815014A → P in Ravenscourt Park; causes alpha-thalassemia. Corresponds to variant dbSNP:rs35331909Ensembl.1
Natural variantiVAR_00273115W → R in Evanston; O(2) affinity up. 2 PublicationsCorresponds to variant dbSNP:rs33964317EnsemblClinVar.1
Natural variantiVAR_00273216G → R in Ottawa/Siam. Corresponds to variant dbSNP:rs35816645EnsemblClinVar.1
Natural variantiVAR_00273317K → M in Harbin; slightly unstable. 1 PublicationCorresponds to variant dbSNP:rs35210126EnsemblClinVar.1
Natural variantiVAR_00273417K → N in Beijing. Corresponds to variants dbSNP:rs281860648 and dbSNP:rs281860619EnsemblClinVarEnsembl.1
Natural variantiVAR_00273519G → D in Al-Ain Abu Dhabi. 1 PublicationCorresponds to variant dbSNP:rs35993097EnsemblClinVar.1
Natural variantiVAR_00273619G → R in Handsworth. Corresponds to variant dbSNP:rs34504387EnsemblClinVar.1
Natural variantiVAR_00273720A → D in J-Kurosh. 1
Natural variantiVAR_00273820A → E in J-Tashikuergan. Corresponds to variant dbSNP:rs35628685EnsemblClinVar.1
Natural variantiVAR_00273921H → Q in Le Lamentin. Corresponds to variant dbSNP:rs41525149Ensembl.1
Natural variantiVAR_00274021H → R in Hobart. 1 PublicationCorresponds to variant dbSNP:rs33943087EnsemblClinVar.1
Natural variantiVAR_00274122A → D in J-Nyanza. Corresponds to variant dbSNP:rs11548605EnsemblClinVar.1
Natural variantiVAR_00274222A → P in Fontainebleau. Corresponds to variant dbSNP:rs34324664EnsemblClinVar.1
Natural variantiVAR_00274323G → D in J-Medellin. Corresponds to variant dbSNP:rs34608326EnsemblClinVar.1
Natural variantiVAR_00274424E → G in Reims; slightly unstable. 1 PublicationCorresponds to variant dbSNP:rs33939421EnsemblClinVar.1
Natural variantiVAR_00274524E → K in Chad. Corresponds to variant dbSNP:rs281864819Ensembl.1
Natural variantiVAR_00274625Y → H in Luxembourg; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864821Ensembl.1
Natural variantiVAR_00274727A → E in Shenyang; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864822EnsemblClinVar.1
Natural variantiVAR_02538727A → V in Campinas. 1 PublicationCorresponds to variant dbSNP:rs281864822EnsemblClinVar.1
Natural variantiVAR_00274828E → D in Hekinan. Corresponds to variant dbSNP:rs281865556Ensembl.1
Natural variantiVAR_00274928E → G in Fort Worth. Corresponds to variant dbSNP:rs281864823EnsemblClinVar.1
Natural variantiVAR_00275028E → V in Spanish town. 1 PublicationCorresponds to variant dbSNP:rs281864823EnsemblClinVar.1
Natural variantiVAR_00275131E → K in O-Padova. Corresponds to variant dbSNP:rs111033605Ensembl.1
Natural variantiVAR_02500232R → K Causes alpha-thalassemia. 1 PublicationCorresponds to variant dbSNP:rs281864543Ensembl.1
Natural variantiVAR_00275232R → S in Prato; unstable. 1 PublicationCorresponds to variant dbSNP:rs111033606EnsemblClinVar.1
Natural variantiVAR_00275335L → R in Queens/Ogi. Corresponds to variant dbSNP:rs281864825Ensembl.1
Natural variantiVAR_00275538P → PE in Catonsville. 1 Publication1
Natural variantiVAR_00275438P → R in Bourmedes. Corresponds to variant dbSNP:rs281864826Ensembl.1
Natural variantiVAR_00275641K → M in Kanagawa; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864828EnsemblClinVar.1
Natural variantiVAR_00275742T → S in Miyano; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281860623Ensembl.1
Natural variantiVAR_00275844F → L in Hirosaki; unstable. 1 PublicationCorresponds to variant dbSNP:rs41491146Ensembl.1
Natural variantiVAR_00275945P → L in Milledgeville; O(2) affinity up. 1 PublicationCorresponds to variants dbSNP:rs33978134 and dbSNP:rs281864830EnsemblClinVarEnsembl.1
Natural variantiVAR_00276045P → R in Kawachi; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864830Ensembl.1
Natural variantiVAR_00276146H → Q in Bari. Corresponds to variant dbSNP:rs281860624Ensembl.1
Natural variantiVAR_00276246H → R in Fort de France; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864831Ensembl.1
Natural variantiVAR_00276348D → A in Cordele; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864833Ensembl.1
Natural variantiVAR_00276448D → G in Kokura; also in Umi/Michigan; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864833Ensembl.1
Natural variantiVAR_00276548D → H in Hasharon/Sinai; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864834EnsemblClinVar.1
Natural variantiVAR_00276648D → Y in Kurdistan. 1 PublicationCorresponds to variant dbSNP:rs281864834EnsemblClinVar.1
Natural variantiVAR_00276749L → R in Montgomery. 1 PublicationCorresponds to variant dbSNP:rs41392146EnsemblClinVar.1
Natural variantiVAR_00276850S → R in Savaria. Corresponds to variant dbSNP:rs41518249Ensembl.1
Natural variantiVAR_00276951H → R in Aichi; slightly unstable. 1 PublicationCorresponds to variant dbSNP:rs281864835Ensembl.1
Natural variantiVAR_00277052G → D in J-Abidjan. Corresponds to variant dbSNP:rs281864836Ensembl.1
Natural variantiVAR_00277152G → R in Russ. Corresponds to variant dbSNP:rs281864837Ensembl.1
Natural variantiVAR_00277254A → D in J-Rovigo; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864838Ensembl.1
Natural variantiVAR_00277355Q → R in Hikoshima/Shimonoseki. Corresponds to variant dbSNP:rs281864839Ensembl.1
Natural variantiVAR_00277457K → R in Port Huron. 1 PublicationCorresponds to variant dbSNP:rs281864841Ensembl.1
Natural variantiVAR_00277557K → T in Thailand. Corresponds to variant dbSNP:rs281864841Ensembl.1
Natural variantiVAR_00277658G → R in L-Persian Gulf. Corresponds to variant dbSNP:rs281864843Ensembl.1
Natural variantiVAR_02538859H → Q in Boghe. 1 PublicationCorresponds to variant dbSNP:rs41378349EnsemblClinVar.1
Natural variantiVAR_00277759H → Y in M-Boston/M-Osaka; O(2) affinity down. 1 PublicationCorresponds to variant dbSNP:rs281864845Ensembl.1
Natural variantiVAR_00277860G → D in Adana; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant dbSNP:rs28928878EnsemblClinVar.1
Natural variantiVAR_00277960G → V in Tottori; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864846Ensembl.1
Natural variantiVAR_00278061K → N in Zambia. Corresponds to variants dbSNP:rs281860659 and dbSNP:rs111033598EnsemblEnsembl.1
Natural variantiVAR_00278161Missing in Clinic; unstable; causes alpha-thalassemia. 1 Publication1
Natural variantiVAR_00278262K → N in J-Buda. 1 PublicationCorresponds to variant dbSNP:rs33985574EnsemblClinVar.1
Natural variantiVAR_00278362K → T in J-Anatolia. Corresponds to variant dbSNP:rs281865558Ensembl.1
Natural variantiVAR_00278463V → M in Evans; unstable. 2 PublicationsCorresponds to variant dbSNP:rs41515649EnsemblClinVar.1
Natural variantiVAR_06640163Missing in HBH; hemoglobin Aghia Sophia. 1 Publication1
Natural variantiVAR_00278564A → D in Pontoise; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864848Ensembl.1
Natural variantiVAR_00278665D → Y in Persepolis. Corresponds to variant dbSNP:rs281864849Ensembl.1
Natural variantiVAR_00278769N → K in G-Philadelphia. 1 PublicationCorresponds to variant dbSNP:rs1060339EnsemblClinVar.1
Natural variantiVAR_00278872A → E in J-Habana. Corresponds to variant dbSNP:rs281864853Ensembl.1
Natural variantiVAR_00278972A → V in Ozieri. Corresponds to variant dbSNP:rs281864853Ensembl.1
Natural variantiVAR_00279073H → R in Daneskgah-Teheran. Corresponds to variant dbSNP:rs281864854Ensembl.1
Natural variantiVAR_00279175D → A in Lille. Corresponds to variant dbSNP:rs281864856Ensembl.1
Natural variantiVAR_00279275D → G in Chapel Hill. Corresponds to variant dbSNP:rs33921047EnsemblClinVar.1
Natural variantiVAR_00279375D → N in G-Pest. 1 PublicationCorresponds to variant dbSNP:rs281864857Ensembl.1
Natural variantiVAR_00279476D → A in Duan. Corresponds to variant dbSNP:rs33991223EnsemblClinVar.1
Natural variantiVAR_00279576D → H in Q-Iran. Corresponds to variant dbSNP:rs281864858Ensembl.1
Natural variantiVAR_00279677M → K in Noko. Corresponds to variant dbSNP:rs281864860Ensembl.1
Natural variantiVAR_00279777M → T in Aztec. Corresponds to variant dbSNP:rs281864860Ensembl.1
Natural variantiVAR_00279878P → R in Guizhou. Corresponds to variant dbSNP:rs281864861Ensembl.1
Natural variantiVAR_00279979N → H in Davenport. 1 PublicationCorresponds to variant dbSNP:rs111033602EnsemblClinVar.1
Natural variantiVAR_00280079N → K in Stanleyville-2. Corresponds to variant dbSNP:rs281860607Ensembl.1
Natural variantiVAR_01266280A → G in Singapore. Corresponds to variant dbSNP:rs281860603Ensembl.1
Natural variantiVAR_00280181L → R in Ann Arbor; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864863Ensembl.1
Natural variantiVAR_00280282S → C in Nigeria. Corresponds to variant dbSNP:rs281864864Ensembl.1
Natural variantiVAR_00280383A → D in Garden State. Corresponds to variant dbSNP:rs281864865Ensembl.1
Natural variantiVAR_00280485S → R in Etobicoke; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281860612Ensembl.1
Natural variantiVAR_00280586D → V in Inkster; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs41331747EnsemblClinVar.1
Natural variantiVAR_00280686D → Y in Atago; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864777Ensembl.1
Natural variantiVAR_00280787L → R in Moabit; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864866Ensembl.1
Natural variantiVAR_00280888H → N in Auckland; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864868Ensembl.1
Natural variantiVAR_00280988H → R in Iwata; unstable. Corresponds to variant dbSNP:rs281864867Ensembl.1
Natural variantiVAR_00281089A → S in Loire; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864869Ensembl.1
Natural variantiVAR_00281191K → M in Handa; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864873Ensembl.1
Natural variantiVAR_04927292L → F. Corresponds to variant dbSNP:rs281864494Ensembl.1
Natural variantiVAR_00281292L → P in Port Phillip; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864874Ensembl.1
Natural variantiVAR_00281393R → Q in J-Cape Town; O(2) affinity up. 2 PublicationsCorresponds to variant dbSNP:rs281864875Ensembl.1
Natural variantiVAR_02077593R → W in Cemenelum; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864876Ensembl.1
Natural variantiVAR_02538995D → A in Bassett; markedly reduced oxygen affinity. 1 PublicationCorresponds to variant dbSNP:rs281864879Ensembl.1
Natural variantiVAR_00281495D → Y in Setif; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864878Ensembl.1
Natural variantiVAR_00281596P → A in Denmark Hill; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864881Ensembl.1
Natural variantiVAR_00281696P → T in Godavari; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs281864881Ensembl.1
Natural variantiVAR_00281798N → K in Dallas; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs41338947Ensembl.1
Natural variantiVAR_002818100K → E in Turriff. 1 PublicationCorresponds to variant dbSNP:rs281864882Ensembl.1
Natural variantiVAR_002819103S → R in Manitoba; slightly unstable. 1 PublicationCorresponds to variant dbSNP:rs41344646EnsemblClinVar.1
Natural variantiVAR_002820104H → R in Contaldo; unstable. 1 PublicationCorresponds to variant dbSNP:rs63750752Ensembl.1
Natural variantiVAR_025390104H → Y in Charolles. 1 PublicationCorresponds to variant dbSNP:rs63750073EnsemblClinVar.1
Natural variantiVAR_002821110L → R in Suan-Dok; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant dbSNP:rs41479844EnsemblClinVar.1
Natural variantiVAR_002822111A → D in Petah Tikva; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant dbSNP:rs28928889Ensembl.1
Natural variantiVAR_002823113H → D in Hopkins-II; unstable. 1 PublicationCorresponds to variant dbSNP:rs281864885Ensembl.1
Natural variantiVAR_002824114L → H in Twin Peaks. Corresponds to variant dbSNP:rs281860618Ensembl.1
Natural variantiVAR_002825115P → L in Nouakchott. Corresponds to variant dbSNP:rs267607269EnsemblClinVar.1
Natural variantiVAR_002826115P → R in Chiapas. Corresponds to variant dbSNP:rs267607269EnsemblClinVar.1
Natural variantiVAR_002827115P → S in Melusine. 1 PublicationCorresponds to variant dbSNP:rs281864887Ensembl.1
Natural variantiVAR_002828116A → D in J-Tongariki. Corresponds to variant dbSNP:rs281864888Ensembl.1
Natural variantiVAR_002829117E → A in Ube-4. Corresponds to variant dbSNP:rs281864946Ensembl.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 dbSNP:rs36075744Ensembl.1
Natural variantiVAR_002834122V → M in Owari. Corresponds to variant dbSNP:rs35187567Ensembl.1
Natural variantiVAR_002835123H → Q in Westmead. 1 PublicationCorresponds to variant dbSNP:rs41479347EnsemblClinVar.1
Natural variantiVAR_002836126L → P in Quong Sze; causes alpha-thalassemia. Corresponds to variant dbSNP:rs41397847EnsemblClinVar.1
Natural variantiVAR_025391126L → R in Plasencia; family with moderate microcytosis and hypochromia. 1 PublicationCorresponds to variant dbSNP:rs41397847EnsemblClinVar.1
Natural variantiVAR_025392127D → G in West One. 1 PublicationCorresponds to variant dbSNP:rs33957766Ensembl.1
Natural variantiVAR_002837127D → V in Fukutomi; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33957766Ensembl.1
Natural variantiVAR_002838127D → Y in Montefiore; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33933481EnsemblClinVar.1
Natural variantiVAR_002839128K → N in Jackson. Corresponds to variant dbSNP:rs33972894Ensembl.1
Natural variantiVAR_002840130L → P in Tunis-Bizerte; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant dbSNP:rs281864889Ensembl.1
Natural variantiVAR_002842131A → D in Yuda; O(2) affinity down. 1 PublicationCorresponds to variant dbSNP:rs41528545Ensembl.1
Natural variantiVAR_002841131A → P in Sun Prairie; unstable. 1 PublicationCorresponds to variant dbSNP:rs41529844EnsemblClinVar.1
Natural variantiVAR_002843132S → P in Questembert; highly unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant dbSNP:rs63751417Ensembl.1
Natural variantiVAR_002844134S → R in Val de Marne; O(2) affinity up. 1 PublicationCorresponds to variants dbSNP:rs56308100 and dbSNP:rs55948437EnsemblEnsembl.1
Natural variantiVAR_002845136V → E in Pavie. Corresponds to variant dbSNP:rs63749809Ensembl.1
Natural variantiVAR_002846137L → M in Chicago. Corresponds to variant dbSNP:rs41364652EnsemblClinVar.1
Natural variantiVAR_002847137L → P in Bibba; unstable; causes alpha-thalassemia. 1 PublicationCorresponds to variant dbSNP:rs41469945EnsemblClinVar.1
Natural variantiVAR_035242137L → R in Toyama. 1 PublicationCorresponds to variant dbSNP:rs41469945EnsemblClinVar.1
Natural variantiVAR_002848139S → P in Attleboro; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs63750801Ensembl.1
Natural variantiVAR_002849140K → E in Hanamaki; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs41361546EnsemblClinVar.1
Natural variantiVAR_002850140K → T in Tokoname; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs56348461Ensembl.1
Natural variantiVAR_002851141Y → H in Rouen/Ethiopia; O(2) affinity up. 2 PublicationsCorresponds to variant dbSNP:rs55870409Ensembl.1
Natural variantiVAR_002852142R → C in Nunobiki; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs63750134Ensembl.1
Natural variantiVAR_002854142R → H in Suresnes; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs63751282Ensembl.1
Natural variantiVAR_002853142R → L in Legnano; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs63751282Ensembl.1
Natural variantiVAR_002855142R → P in Singapore. Corresponds to variant dbSNP:rs63751282Ensembl.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

Similar proteinsi

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[»]
5HY8X-ray2.30A/C/E/G/S2-142[»]
5JDOX-ray3.20C2-142[»]
E2-141[»]
5KDQX-ray2.15A/C3-142[»]
5KSIX-ray1.80A/C2-142[»]
5KSJX-ray2.40A/C2-142[»]
5NI1electron microscopy3.20A/C2-142[»]
5SW7X-ray1.85A2-142[»]
5U3IX-ray1.95A/C2-142[»]
5UCUX-ray1.80A2-142[»]
5UFJX-ray2.05A/C2-142[»]
5URCX-ray1.85A/C2-142[»]
5VMMX-ray3.60A/C2-142[»]
5WOGX-ray1.54A/B3-139[»]
5WOHX-ray1.58A/C3-139[»]
5X2RX-ray2.70A/C/E/G/I/K2-142[»]
5X2SX-ray2.39A/C/E/G/I/K2-142[»]
5X2TX-ray2.64A/C/E/G/I/K2-142[»]
5X2UX-ray2.53A/C/E/G/I/K2-142[»]
6BB5X-ray2.28A3-141[»]
6BWPX-ray1.70A/C2-142[»]
6BWUX-ray2.00A2-142[»]
6HBWX-ray2.00A/C2-142[»]
ProteinModelPortaliP69905
SMRiP69905
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109289, 25 interactors
109290, 47 interactors
ComplexPortaliCPX-2158 Hemoglobin HbA complex
CPX-2419 Hemoglobin HbA2 complex
CPX-2927 Hemoglobin E complex
CPX-2932 Hemoglobin HbF Variant 1 complex
CPX-2933 Hemoglobin HbF Variant 2 complex
DIPiDIP-35199N
IntActiP69905, 35 interactors
MINTiP69905
STRINGi9606.ENSP00000322421

Chemistry databases

ChEMBLiCHEMBL2887
DrugBankiDB07427 2-[(2-methoxy-5-methylphenoxy)methyl]pyridine
DB07428 4-[(5-methoxy-2-methylphenoxy)methyl]pyridine
DB02126 4-Carboxycinnamic Acid
DB00893 Iron Dextran
DB09146 Iron saccharate
DB00358 Mefloquine
DB07645 SEBACIC ACID

Protein family/group databases

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

PTM databases

CarbonylDBiP69905
iPTMnetiP69905
PhosphoSitePlusiP69905

Polymorphism and mutation databases

BioMutaiHBA1
DMDMi57013850

2D gel databases

DOSAC-COBS-2DPAGEiP69905
REPRODUCTION-2DPAGEiIPI00410714
SWISS-2DPAGEiP69905
UCD-2DPAGEiP69905

Proteomic databases

EPDiP69905
MaxQBiP69905
PaxDbiP69905
PeptideAtlasiP69905
PRIDEiP69905
ProteomicsDBi12639
57547
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
EuPathDBiHostDB:ENSG00000188536.12
HostDB:ENSG00000206172.8
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

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
SIGNORiP69905

Miscellaneous databases

ChiTaRSiHBA1 human
HBA2 human
EvolutionaryTraceiP69905
GeneWikiiHBA2
Hemoglobin,_alpha_1
Hemoglobin,_alpha_2
PMAP-CutDBiP69905
PROiPR:P69905
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188536 Expressed in 91 organ(s), highest expression level in blood
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
InterProiView protein in InterPro
IPR000971 Globin
IPR009050 Globin-like_sf
IPR012292 Globin/Proto
IPR002338 Haemoglobin_a-typ
IPR002339 Haemoglobin_pi
PfamiView protein in Pfam
PF00042 Globin, 1 hit
PRINTSiPR00612 ALPHAHAEM
PR00815 PIHAEM
SUPFAMiSSF46458 SSF46458, 1 hit
PROSITEiView protein in PROSITE
PS01033 GLOBIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHBA_HUMAN
AccessioniPrimary (citable) accession number: P69905
Secondary accession number(s): P01922
, Q1HDT5, Q3MIF5, Q53F97, Q96KF1, Q9NYR7, Q9UCM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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