P69905 · HBA_HUMAN
- ProteinHemoglobin subunit alpha
- GeneHBA1; HBA2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids142 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Involved in oxygen transport from the lung to the various peripheral tissues.
Hemopressin
Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343).
Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343).
Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343).
Miscellaneous
Gives blood its red color.
Features
Showing features for site, binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 9-10 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: TN | ||||||
Site | 12 | Not glycated | ||||
Sequence: K | ||||||
Site | 14-15 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: AW | ||||||
Site | 25-26 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: YG | ||||||
Site | 30-31 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: LE | ||||||
Site | 46-47 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: HF | ||||||
Site | 48-49 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: DL | ||||||
Site | 53-54 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: SA | ||||||
Site | 56-57 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: VK | ||||||
Site | 57 | Not glycated | ||||
Sequence: K | ||||||
Binding site | 59 | O2 (UniProtKB | ChEBI) | ||||
Sequence: H | ||||||
Site | 60-61 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: GK | ||||||
Site | 61 | Not glycated | ||||
Sequence: K | ||||||
Binding site | 88 | Fe (UniProtKB | ChEBI) of heme b (UniProtKB | ChEBI); proximal binding residue | ||||
Sequence: H | ||||||
Site | 91 | Not glycated | ||||
Sequence: K | ||||||
Site | 92-93 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: LR | ||||||
Site | 100 | Not glycated | ||||
Sequence: K | ||||||
Site | 107-108 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: LV | ||||||
Site | 109-110 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: TL | ||||||
Site | 122-123 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: VH | ||||||
Site | 134-135 | (Microbial infection) Cleavage; by N.americanus apr-2 | ||||
Sequence: ST |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | blood microparticle | |
Cellular Component | cytosol | |
Cellular Component | endocytic vesicle lumen | |
Cellular Component | extracellular exosome | |
Cellular Component | extracellular region | |
Cellular Component | extracellular space | |
Cellular Component | haptoglobin-hemoglobin complex | |
Cellular Component | hemoglobin complex | |
Cellular Component | membrane | |
Molecular Function | heme binding | |
Molecular Function | iron ion binding | |
Molecular Function | organic acid binding | |
Molecular Function | oxygen binding | |
Molecular Function | oxygen carrier activity | |
Biological Process | carbon dioxide transport | |
Biological Process | cellular oxidant detoxification | |
Biological Process | hydrogen peroxide catabolic process | |
Biological Process | nitric oxide transport | |
Biological Process | oxygen transport | |
Biological Process | response to hydrogen peroxide |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameHemoglobin subunit alpha
- Alternative names
- Cleaved into 1 chains
Gene names
- Community suggested namesHemoglobin subunit alpha.
- Community suggested namesHemoglobin subunit alpha.
- Community suggested namesalpha-1 globin; alpha-2 globin.
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP69905
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Heinz body anemias (HEIBAN)
- Note
- 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 alsoMIM:140700
Alpha-thalassemia (A-THAL)
- Note
- 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 alsoMIM:604131
Hemoglobin H disease (HBH)
- Note
- 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 alsoMIM:613978
Natural variants in HBH
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066401 | 63 | missing | in HBH; hemoglobin Aghia Sophia |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_002719 | 2 | in Thionville; O2 affinity down; dbSNP:rs33981821 | |||
Sequence: V → E | ||||||
Natural variant | VAR_002720 | 3 | in ChongQing; O2 affinity up; dbSNP:rs36030576 | |||
Sequence: L → R | ||||||
Natural variant | VAR_002721 | 6 | in J-Toronto; dbSNP:rs34090856 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002722 | 6 | in Karachi; dbSNP:rs34751764 | |||
Sequence: A → P | ||||||
Natural variant | VAR_002723 | 7 | in Sawara; O2 affinity up; dbSNP:rs33986902 | |||
Sequence: D → A | ||||||
Natural variant | VAR_002724 | 7 | in Swan River; dbSNP:rs281864805 | |||
Sequence: D → G | ||||||
Natural variant | VAR_002725 | 7 | in Dunn; O2 affinity up; dbSNP:rs33961916 | |||
Sequence: D → N | ||||||
Natural variant | VAR_002726 | 7 | in Ferndown; O2 affinity up; dbSNP:rs281864805 | |||
Sequence: D → V | ||||||
Natural variant | VAR_002727 | 7 | in Woodville; O2 affinity up; dbSNP:rs281864806 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_002728 | 8 | in Kurosaki; dbSNP:rs34817956 | |||
Sequence: K → E | ||||||
Natural variant | VAR_038149 | 10 | in Broomfield; dbSNP:rs281860608 | |||
Sequence: N → T | ||||||
Natural variant | VAR_002729 | 12 | in Anantharaj; dbSNP:rs33938574 | |||
Sequence: K → E | ||||||
Natural variant | VAR_002730 | 13 | in J-Paris 1/J-Aljezur; dbSNP:rs35615982 | |||
Sequence: A → D | ||||||
Natural variant | VAR_038150 | 14 | in Ravenscourt Park; causes alpha-thalassemia; dbSNP:rs35331909 | |||
Sequence: A → P | ||||||
Natural variant | VAR_002731 | 15 | in Evanston; O2 affinity up; dbSNP:rs33964317 | |||
Sequence: W → R | ||||||
Natural variant | VAR_002732 | 16 | in Ottawa/Siam; dbSNP:rs35816645 | |||
Sequence: G → R | ||||||
Natural variant | VAR_002733 | 17 | in Harbin; slightly unstable; dbSNP:rs35210126 | |||
Sequence: K → M | ||||||
Natural variant | VAR_002734 | 17 | in Beijing; dbSNP:rs281860648 and dbSNP:rs281860619 | |||
Sequence: K → N | ||||||
Natural variant | VAR_002735 | 19 | in Al-Ain Abu Dhabi; dbSNP:rs35993097 | |||
Sequence: G → D | ||||||
Natural variant | VAR_002736 | 19 | in Handsworth; dbSNP:rs34504387 | |||
Sequence: G → R | ||||||
Natural variant | VAR_002737 | 20 | in J-Kurosh | |||
Sequence: A → D | ||||||
Natural variant | VAR_002738 | 20 | in J-Tashikuergan; dbSNP:rs35628685 | |||
Sequence: A → E | ||||||
Natural variant | VAR_002739 | 21 | in Le Lamentin; dbSNP:rs41525149 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_002740 | 21 | in Hobart; dbSNP:rs33943087 | |||
Sequence: H → R | ||||||
Natural variant | VAR_002741 | 22 | in J-Nyanza; dbSNP:rs11548605 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002742 | 22 | in Fontainebleau; dbSNP:rs34324664 | |||
Sequence: A → P | ||||||
Natural variant | VAR_002743 | 23 | in J-Medellin; dbSNP:rs34608326 | |||
Sequence: G → D | ||||||
Natural variant | VAR_002744 | 24 | in Reims; slightly unstable; dbSNP:rs33939421 | |||
Sequence: E → G | ||||||
Natural variant | VAR_002745 | 24 | in Chad; dbSNP:rs281864819 | |||
Sequence: E → K | ||||||
Natural variant | VAR_002746 | 25 | in Luxembourg; unstable; dbSNP:rs281864821 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_002747 | 27 | in Shenyang; unstable; dbSNP:rs281864822 | |||
Sequence: A → E | ||||||
Natural variant | VAR_025387 | 27 | in Campinas; dbSNP:rs281864822 | |||
Sequence: A → V | ||||||
Natural variant | VAR_002748 | 28 | in Hekinan; dbSNP:rs281865556 | |||
Sequence: E → D | ||||||
Natural variant | VAR_002749 | 28 | in Fort Worth; dbSNP:rs281864823 | |||
Sequence: E → G | ||||||
Natural variant | VAR_002750 | 28 | in Spanish town; dbSNP:rs281864823 | |||
Sequence: E → V | ||||||
Natural variant | VAR_002751 | 31 | in O-Padova; dbSNP:rs111033605 | |||
Sequence: E → K | ||||||
Natural variant | VAR_025002 | 32 | causes alpha-thalassemia; dbSNP:rs281864543 | |||
Sequence: R → K | ||||||
Natural variant | VAR_002752 | 32 | in Prato; unstable; dbSNP:rs111033606 | |||
Sequence: R → S | ||||||
Natural variant | VAR_002753 | 35 | in Queens/Ogi; dbSNP:rs281864825 | |||
Sequence: L → R | ||||||
Natural variant | VAR_002755 | 38 | in Catonsville | |||
Sequence: P → PE | ||||||
Natural variant | VAR_002754 | 38 | in Bourmedes; dbSNP:rs281864826 | |||
Sequence: P → R | ||||||
Natural variant | VAR_002756 | 41 | in Kanagawa; O2 affinity up; dbSNP:rs281864828 | |||
Sequence: K → M | ||||||
Natural variant | VAR_002757 | 42 | in Miyano; O2 affinity up; dbSNP:rs281860623 | |||
Sequence: T → S | ||||||
Natural variant | VAR_002758 | 44 | in Hirosaki; unstable; dbSNP:rs41491146 | |||
Sequence: F → L | ||||||
Natural variant | VAR_002759 | 45 | in Milledgeville; O2 affinity up; dbSNP:rs33978134 and dbSNP:rs281864830 | |||
Sequence: P → L | ||||||
Natural variant | VAR_002760 | 45 | in Kawachi; O2 affinity up; dbSNP:rs281864830 | |||
Sequence: P → R | ||||||
Natural variant | VAR_002761 | 46 | in Bari; dbSNP:rs281860624 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_002762 | 46 | in Fort de France; O2 affinity up; dbSNP:rs281864831 | |||
Sequence: H → R | ||||||
Natural variant | VAR_002763 | 48 | in Cordele; unstable; dbSNP:rs281864833 | |||
Sequence: D → A | ||||||
Natural variant | VAR_002764 | 48 | in Kokura; also in Umi/Michigan; unstable; dbSNP:rs281864833 | |||
Sequence: D → G | ||||||
Natural variant | VAR_002765 | 48 | in Hasharon/Sinai; unstable; dbSNP:rs281864834 | |||
Sequence: D → H | ||||||
Natural variant | VAR_002766 | 48 | in Kurdistan; dbSNP:rs281864834 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_002767 | 49 | in Montgomery; dbSNP:rs41392146 | |||
Sequence: L → R | ||||||
Natural variant | VAR_002768 | 50 | in Savaria; dbSNP:rs41518249 | |||
Sequence: S → R | ||||||
Natural variant | VAR_002769 | 51 | in Aichi; slightly unstable; dbSNP:rs281864835 | |||
Sequence: H → R | ||||||
Natural variant | VAR_002770 | 52 | in J-Abidjan; dbSNP:rs281864836 | |||
Sequence: G → D | ||||||
Natural variant | VAR_002771 | 52 | in Russ; dbSNP:rs281864837 | |||
Sequence: G → R | ||||||
Natural variant | VAR_002772 | 54 | in J-Rovigo; unstable; dbSNP:rs281864838 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002773 | 55 | in Hikoshima/Shimonoseki; dbSNP:rs281864839 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_002774 | 57 | in Port Huron; dbSNP:rs281864841 | |||
Sequence: K → R | ||||||
Natural variant | VAR_002775 | 57 | in Thailand; dbSNP:rs281864841 | |||
Sequence: K → T | ||||||
Natural variant | VAR_002776 | 58 | in L-Persian Gulf; dbSNP:rs281864843 | |||
Sequence: G → R | ||||||
Natural variant | VAR_025388 | 59 | in Boghe; dbSNP:rs41378349 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_002777 | 59 | in M-Boston/M-Osaka; O2 affinity down; dbSNP:rs281864845 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_002778 | 60 | in Adana; unstable; causes alpha-thalassemia; dbSNP:rs28928878 | |||
Sequence: G → D | ||||||
Natural variant | VAR_002779 | 60 | in Tottori; unstable; dbSNP:rs281864846 | |||
Sequence: G → V | ||||||
Natural variant | VAR_002780 | 61 | in Zambia; dbSNP:rs281860659 and dbSNP:rs111033598 | |||
Sequence: K → N | ||||||
Natural variant | VAR_002781 | 61 | in Clinic; unstable; causes alpha-thalassemia | |||
Sequence: Missing | ||||||
Natural variant | VAR_002782 | 62 | in J-Buda; dbSNP:rs33985574 | |||
Sequence: K → N | ||||||
Natural variant | VAR_002783 | 62 | in J-Anatolia; dbSNP:rs281865558 | |||
Sequence: K → T | ||||||
Natural variant | VAR_002784 | 63 | in Evans; unstable; dbSNP:rs41515649 | |||
Sequence: V → M | ||||||
Natural variant | VAR_066401 | 63 | in HBH; hemoglobin Aghia Sophia | |||
Sequence: Missing | ||||||
Natural variant | VAR_002785 | 64 | in Pontoise; unstable; dbSNP:rs34502246 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002786 | 65 | in Persepolis; dbSNP:rs33984024 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_002787 | 69 | in G-Philadelphia; dbSNP:rs1060339 | |||
Sequence: N → K | ||||||
Natural variant | VAR_002788 | 72 | in J-Habana; dbSNP:rs281864853 | |||
Sequence: A → E | ||||||
Natural variant | VAR_002789 | 72 | in Ozieri; dbSNP:rs281864853 | |||
Sequence: A → V | ||||||
Natural variant | VAR_002790 | 73 | in Daneskgah-Teheran; dbSNP:rs281864854 | |||
Sequence: H → R | ||||||
Natural variant | VAR_002791 | 75 | in Lille; dbSNP:rs281864856 | |||
Sequence: D → A | ||||||
Natural variant | VAR_002792 | 75 | in Chapel Hill; dbSNP:rs33921047 | |||
Sequence: D → G | ||||||
Natural variant | VAR_002793 | 75 | in G-Pest; dbSNP:rs281864857 | |||
Sequence: D → N | ||||||
Natural variant | VAR_002794 | 76 | in Duan; dbSNP:rs33991223 | |||
Sequence: D → A | ||||||
Natural variant | VAR_002795 | 76 | in Q-Iran; dbSNP:rs281864858 | |||
Sequence: D → H | ||||||
Natural variant | VAR_002796 | 77 | in Noko; dbSNP:rs33969953 | |||
Sequence: M → K | ||||||
Natural variant | VAR_002797 | 77 | in Aztec; dbSNP:rs33969953 | |||
Sequence: M → T | ||||||
Natural variant | VAR_002798 | 78 | in Guizhou; dbSNP:rs281864861 | |||
Sequence: P → R | ||||||
Natural variant | VAR_002799 | 79 | in Davenport; dbSNP:rs111033602 | |||
Sequence: N → H | ||||||
Natural variant | VAR_002800 | 79 | in Stanleyville-2; dbSNP:rs281860607 | |||
Sequence: N → K | ||||||
Natural variant | VAR_012662 | 80 | in Singapore; dbSNP:rs281860603 | |||
Sequence: A → G | ||||||
Natural variant | VAR_002801 | 81 | in Ann Arbor; unstable; dbSNP:rs281864863 | |||
Sequence: L → R | ||||||
Natural variant | VAR_002802 | 82 | in Nigeria; dbSNP:rs281864864 | |||
Sequence: S → C | ||||||
Natural variant | VAR_002803 | 83 | in Garden State; dbSNP:rs281864865 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002804 | 85 | in Etobicoke; O2 affinity up; dbSNP:rs281860612 | |||
Sequence: S → R | ||||||
Natural variant | VAR_002805 | 86 | in Inkster; O2 affinity up; dbSNP:rs41331747 | |||
Sequence: D → V | ||||||
Natural variant | VAR_002806 | 86 | in Atago; O2 affinity up; dbSNP:rs281864777 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_002807 | 87 | in Moabit; unstable; dbSNP:rs281864866 | |||
Sequence: L → R | ||||||
Natural variant | VAR_002808 | 88 | in Auckland; unstable; dbSNP:rs281864868 | |||
Sequence: H → N | ||||||
Natural variant | VAR_002809 | 88 | in Iwata; unstable; dbSNP:rs281864867 | |||
Sequence: H → R | ||||||
Natural variant | VAR_002810 | 89 | in Loire; O2 affinity up; dbSNP:rs35239527 | |||
Sequence: A → S | ||||||
Natural variant | VAR_002811 | 91 | in Handa; O2 affinity up; dbSNP:rs281864873 | |||
Sequence: K → M | ||||||
Natural variant | VAR_049272 | 92 | in dbSNP:rs281864494 | |||
Sequence: L → F | ||||||
Natural variant | VAR_002812 | 92 | in Port Phillip; unstable; dbSNP:rs281864874 | |||
Sequence: L → P | ||||||
Natural variant | VAR_002813 | 93 | in J-Cape Town; O2 affinity up; dbSNP:rs281864875 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_020775 | 93 | in Cemenelum; O2 affinity up; dbSNP:rs281864876 | |||
Sequence: R → W | ||||||
Natural variant | VAR_025389 | 95 | in Bassett; markedly reduced oxygen affinity; dbSNP:rs281864879 | |||
Sequence: D → A | ||||||
Natural variant | VAR_002814 | 95 | in Setif; unstable; dbSNP:rs281864878 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_002815 | 96 | in Denmark Hill; O2 affinity up; dbSNP:rs281864881 | |||
Sequence: P → A | ||||||
Natural variant | VAR_002816 | 96 | in Godavari; O2 affinity up; dbSNP:rs281864881 | |||
Sequence: P → T | ||||||
Natural variant | VAR_002817 | 98 | in Dallas; O2 affinity up; dbSNP:rs41338947 | |||
Sequence: N → K | ||||||
Natural variant | VAR_002818 | 100 | in Turriff; dbSNP:rs281864882 | |||
Sequence: K → E | ||||||
Natural variant | VAR_002819 | 103 | in Manitoba; slightly unstable; dbSNP:rs41344646 | |||
Sequence: S → R | ||||||
Natural variant | VAR_002820 | 104 | in Contaldo; unstable; dbSNP:rs63750752 | |||
Sequence: H → R | ||||||
Natural variant | VAR_025390 | 104 | in Charolles; dbSNP:rs63750073 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_002821 | 110 | in Suan-Dok; unstable; causes alpha-thalassemia; dbSNP:rs41479844 | |||
Sequence: L → R | ||||||
Natural variant | VAR_002822 | 111 | in Petah Tikva; unstable; causes alpha-thalassemia; dbSNP:rs28928889 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002823 | 113 | in Hopkins-II; unstable; dbSNP:rs281864885 | |||
Sequence: H → D | ||||||
Natural variant | VAR_002824 | 114 | in Twin Peaks; dbSNP:rs281860618 | |||
Sequence: L → H | ||||||
Natural variant | VAR_002825 | 115 | in Nouakchott; dbSNP:rs267607269 | |||
Sequence: P → L | ||||||
Natural variant | VAR_002826 | 115 | in Chiapas; dbSNP:rs267607269 | |||
Sequence: P → R | ||||||
Natural variant | VAR_002827 | 115 | in Melusine; dbSNP:rs281864887 | |||
Sequence: P → S | ||||||
Natural variant | VAR_002828 | 116 | in J-Tongariki; dbSNP:rs281864888 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002829 | 117 | in Ube-4; dbSNP:rs281864946 | |||
Sequence: E → A | ||||||
Natural variant | VAR_002830 | 117 | in Zaire | |||
Sequence: E → EHLPAE | ||||||
Natural variant | VAR_002831 | 118 | in Phnom Penh | |||
Sequence: F → FI | ||||||
Natural variant | VAR_002832 | 119 | in Grady | |||
Sequence: T → TEFT | ||||||
Natural variant | VAR_002833 | 121 | in J-Meerut/J-Birmingham; dbSNP:rs36075744 | |||
Sequence: A → E | ||||||
Natural variant | VAR_002834 | 122 | in Owari; dbSNP:rs35187567 | |||
Sequence: V → M | ||||||
Natural variant | VAR_002835 | 123 | in Westmead; dbSNP:rs41479347 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_002836 | 126 | in Quong Sze; causes alpha-thalassemia; dbSNP:rs41397847 | |||
Sequence: L → P | ||||||
Natural variant | VAR_025391 | 126 | in Plasencia; family with moderate microcytosis and hypochromia; dbSNP:rs41397847 | |||
Sequence: L → R | ||||||
Natural variant | VAR_025392 | 127 | in West One; dbSNP:rs33957766 | |||
Sequence: D → G | ||||||
Natural variant | VAR_002837 | 127 | in Fukutomi; O2 affinity up; dbSNP:rs33957766 | |||
Sequence: D → V | ||||||
Natural variant | VAR_002838 | 127 | in Montefiore; O2 affinity up; dbSNP:rs33933481 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_002839 | 128 | in Jackson; dbSNP:rs33972894 | |||
Sequence: K → N | ||||||
Natural variant | VAR_002840 | 130 | in Tunis-Bizerte; unstable; causes alpha-thalassemia; dbSNP:rs281864889 | |||
Sequence: L → P | ||||||
Natural variant | VAR_002842 | 131 | in Yuda; O2 affinity down; dbSNP:rs41528545 | |||
Sequence: A → D | ||||||
Natural variant | VAR_002841 | 131 | in Sun Prairie; unstable; dbSNP:rs41529844 | |||
Sequence: A → P | ||||||
Natural variant | VAR_002843 | 132 | in Questembert; highly unstable; causes alpha-thalassemia; dbSNP:rs63751417 | |||
Sequence: S → P | ||||||
Natural variant | VAR_002844 | 134 | in Val de Marne; O2 affinity up; dbSNP:rs56308100 and dbSNP:rs55948437 | |||
Sequence: S → R | ||||||
Natural variant | VAR_002845 | 136 | in Pavie; dbSNP:rs63749809 | |||
Sequence: V → E | ||||||
Natural variant | VAR_002846 | 137 | in Chicago; dbSNP:rs41364652 | |||
Sequence: L → M | ||||||
Natural variant | VAR_002847 | 137 | in Bibba; unstable; causes alpha-thalassemia; dbSNP:rs41469945 | |||
Sequence: L → P | ||||||
Natural variant | VAR_035242 | 137 | in Toyama; dbSNP:rs41469945 | |||
Sequence: L → R | ||||||
Natural variant | VAR_002848 | 139 | in Attleboro; O2 affinity up; dbSNP:rs63750801 | |||
Sequence: S → P | ||||||
Natural variant | VAR_002849 | 140 | in Hanamaki; O2 affinity up; dbSNP:rs41361546 | |||
Sequence: K → E | ||||||
Natural variant | VAR_002850 | 140 | in Tokoname; O2 affinity up; dbSNP:rs56348461 | |||
Sequence: K → T | ||||||
Natural variant | VAR_002851 | 141 | in Rouen/Ethiopia; O2 affinity up; dbSNP:rs55870409 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_002852 | 142 | in Nunobiki; O2 affinity up; dbSNP:rs63750134 | |||
Sequence: R → C | ||||||
Natural variant | VAR_002854 | 142 | in Suresnes; O2 affinity up; dbSNP:rs33935328 | |||
Sequence: R → H | ||||||
Natural variant | VAR_002853 | 142 | in Legnano; O2 affinity up; dbSNP:rs33935328 | |||
Sequence: R → L | ||||||
Natural variant | VAR_002855 | 142 | in Singapore; dbSNP:rs33935328 | |||
Sequence: R → P |
Variants
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The viewer provides 820 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, chain, modified residue, modified residue (large scale data), glycosylation, peptide.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Chain | PRO_0000052653 | 2-142 | UniProt | Hemoglobin subunit alpha | |||
Sequence: VLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR | |||||||
Modified residue | 4 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 4 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 8 | UniProt | N6-succinyllysine; alternate | ||||
Sequence: K | |||||||
Glycosylation | 8 | UniProt | N-linked (Glc) (glycation) lysine; alternate | ||||
Sequence: K | |||||||
Modified residue | 9 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 12 | UniProt | N6-succinyllysine | ||||
Sequence: K | |||||||
Modified residue | 17 | UniProt | N6-acetyllysine; alternate | ||||
Sequence: K | |||||||
Modified residue | 17 | UniProt | N6-succinyllysine; alternate | ||||
Sequence: K | |||||||
Glycosylation | 17 | UniProt | N-linked (Glc) (glycation) lysine; alternate | ||||
Sequence: K | |||||||
Modified residue | 25 | UniProt | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 25 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 36 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 41 | UniProt | N6-succinyllysine; alternate | ||||
Sequence: K | |||||||
Glycosylation | 41 | UniProt | N-linked (Glc) (glycation) lysine; alternate | ||||
Sequence: K | |||||||
Modified residue | 50 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Glycosylation | 62 | UniProt | N-linked (Glc) (glycation) lysine | ||||
Sequence: K | |||||||
Peptide | PRO_0000455882 | 96-104 | UniProt | Hemopressin | |||
Sequence: PVNFKLLSH | |||||||
Modified residue | 103 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 109 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 125 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 132 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 132 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 135 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 135 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 138 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 139 | UniProt | Phosphoserine | ||||
Sequence: S |
Post-translational modification
The initiator Met is not cleaved in variant Thionville and is acetylated.
Keywords
- PTM
Proteomic databases
2D gel databases
PTM databases
Expression
Tissue specificity
Red blood cells.
Gene expression databases
Organism-specific databases
Interaction
Subunit
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).
(Microbial infection) Interacts with Staphylococcus aureus protein isdB.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P69905 | AHSP Q9NZD4 | 2 | EBI-714680, EBI-720250 | |
BINARY | P69905 | CCDC57 Q2TAC2 | 3 | EBI-714680, EBI-2808286 | |
BINARY | P69905 | CYB5R3 P00387 | 2 | EBI-714680, EBI-1046040 | |
BINARY | P69905 | HBB P68871 | 32 | EBI-714680, EBI-715554 | |
BINARY | P69905 | HBD P02042 | 3 | EBI-714680, EBI-6152722 | |
BINARY | P69905 | HBE1 P02100 | 4 | EBI-714680, EBI-6190240 | |
BINARY | P69905 | HBG2 P69892 | 3 | EBI-714680, EBI-3910089 | |
BINARY | P69905 | HBQ1 P09105 | 3 | EBI-714680, EBI-10193656 | |
BINARY | P69905 | KRT31 Q15323 | 3 | EBI-714680, EBI-948001 | |
BINARY | P69905 | KRT34 O76011 | 3 | EBI-714680, EBI-1047093 | |
BINARY | P69905 | KRT40 Q6A162 | 3 | EBI-714680, EBI-10171697 | |
BINARY | P69905 | NOS3 P29474 | 2 | EBI-714680, EBI-1391623 | |
BINARY | P69905 | NOTCH2NLC P0DPK4 | 3 | EBI-714680, EBI-22310682 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 2-142 | Globin | ||||
Sequence: VLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR |
Sequence similarities
Belongs to the globin family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length142
- Mass (Da)15,258
- Last updated2007-01-23 v2
- Checksum15E13666573BBBAE
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A2R8Y7C0 | A0A2R8Y7C0_HUMAN | HBA2 | 134 | ||
G3V1N2 | G3V1N2_HUMAN | HBA1 | 110 |
Sequence caution
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 10 | in Ref. 13; BAD97112 | ||||
Sequence: N → H |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
J00153 EMBL· GenBank· DDBJ | AAB59407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
J00153 EMBL· GenBank· DDBJ | AAB59408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
V00491 EMBL· GenBank· DDBJ | CAA23750.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
V00493 EMBL· GenBank· DDBJ | CAA23752.1 EMBL· GenBank· DDBJ | mRNA | ||
V00488 EMBL· GenBank· DDBJ | CAA23748.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
V00516 EMBL· GenBank· DDBJ | CAA23774.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF230076 EMBL· GenBank· DDBJ | AAF72612.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF525460 EMBL· GenBank· DDBJ | AAM83102.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
DQ431198 EMBL· GenBank· DDBJ | ABD95910.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
DQ431198 EMBL· GenBank· DDBJ | ABD95911.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF097635 EMBL· GenBank· DDBJ | AAC72839.1 EMBL· GenBank· DDBJ | mRNA | ||
AF105974 EMBL· GenBank· DDBJ | AAC97373.1 EMBL· GenBank· DDBJ | mRNA | ||
AF349571 EMBL· GenBank· DDBJ | AAK37554.1 EMBL· GenBank· DDBJ | mRNA | ||
AF536204 EMBL· GenBank· DDBJ | AAN04486.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
DQ499017 EMBL· GenBank· DDBJ | ABF56144.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
DQ499018 EMBL· GenBank· DDBJ | ABF56145.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK223392 EMBL· GenBank· DDBJ | BAD97112.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AE006462 EMBL· GenBank· DDBJ | AAK61215.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AE006462 EMBL· GenBank· DDBJ | AAK61216.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Z84721 EMBL· GenBank· DDBJ | CAB06554.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Z84721 EMBL· GenBank· DDBJ | CAB06555.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC005931 EMBL· GenBank· DDBJ | AAH05931.1 EMBL· GenBank· DDBJ | mRNA | ||
BC008572 EMBL· GenBank· DDBJ | AAH08572.1 EMBL· GenBank· DDBJ | mRNA | ||
BC032122 EMBL· GenBank· DDBJ | AAH32122.1 EMBL· GenBank· DDBJ | mRNA | ||
BC050661 EMBL· GenBank· DDBJ | AAH50661.1 EMBL· GenBank· DDBJ | mRNA | ||
BC101846 EMBL· GenBank· DDBJ | AAI01847.1 EMBL· GenBank· DDBJ | mRNA | ||
BC101848 EMBL· GenBank· DDBJ | AAI01849.1 EMBL· GenBank· DDBJ | mRNA |