Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Hemoglobin subunit alpha  

UniProtKB / Swiss-Prot ID :  HBA_HUMAN

Gene Name (Synonyms) : 
HBA1
HBA2  

Species :  Homo sapiens (Human). 

Subcellular Localization :   

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

Protein Sequence MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNA...
Predicted Secondary Structure CCCCHHHHHHHHHHHHHHHCCHHHHHHHHHHHHHHHCHHHHHHHHCCCCCCCCHHHHHHHHHHHHHHHHH...
Protein Variant
LocationDescription
2V -> E (in Thionville; O(2) affinitydown).
3L -> R (in ChongQing; O(2) affinity up;dbSNP:rs36030576).
6A -> D (in J-Toronto; dbSNP:rs34090856). VAR_002721
6A -> P (in Karachi; dbSNP:rs34751764). VAR_002722
7D -> A (in Sawara; O(2) affinity up;dbSNP:rs33986902).
7D -> G (in Swan River). VAR_002724
7D -> N (in Dunn; O(2) affinity up;dbSNP:rs33961916).
7D -> V (in Ferndown; O(2) affinity up). VAR_002726
7D -> Y (in Woodville; O(2) affinity up). VAR_002727
8K -> E (in Kurosaki; dbSNP:rs34817956). VAR_002728
10N -> T (in Broomfield). VAR_038149
11V -> F (in dbSNP:rs1799896). VAR_014605
12K -> E (in Anantharaj). VAR_002729
13A -> D (in J-Paris 1/J-Aljezur;dbSNP:rs35615982).
14A -> P (in Ravenscourt Park; causesalpha-thalassemia; dbSNP:rs35331909).
15W -> R (in Evanston; O(2) affinity up;dbSNP:rs33964317).
16G -> R (in Ottawa/Siam;dbSNP:rs35816645).
17K -> M (in Harbin; slightly unstable;dbSNP:rs35210126).
17K -> N (in Beijing; dbSNP:rs33923844). VAR_002734
19G -> D (in Al-Ain Abu Dhabi;dbSNP:rs35993097).
19G -> R (in Handsworth; dbSNP:rs34504387). VAR_002736
20A -> D (in J-Kurosh). VAR_002737
20A -> E (in J-Tashikuergan;dbSNP:rs35628685).
21H -> Q (in Le Lamentin;dbSNP:rs41525149).
21H -> R (in Hobart; dbSNP:rs33943087). VAR_002740
22A -> D (in J-Nyanza; dbSNP:rs11548605). VAR_002741
22A -> P (in Fontainebleau;dbSNP:rs34324664).
23G -> D (in J-Medellin; dbSNP:rs34608326). VAR_002743
24E -> G (in Reims; slightly unstable;dbSNP:rs33939421).
24E -> K (in Chad). VAR_002745
25Y -> H (in Luxembourg; unstable). VAR_002746
27A -> E (in Shenyang; unstable). VAR_002747
27A -> V (in Campinas). VAR_025387
28E -> D (in Hekinan). VAR_002748
28E -> G (in Fort Worth). VAR_002749
28E -> V (in Spanish town). VAR_002750
31E -> K (in O-Padova). VAR_002751
32R -> K (causes alpha-thalassemia). VAR_025002
32R -> S (in Prato; unstable). VAR_002752
35L -> R (in Queens/Ogi). VAR_002753
38P -> PE (in Catonsville). VAR_002755
38P -> R (in Bourmedes). VAR_002754
41K -> M (in Kanagawa; O(2) affinity up). VAR_002756
42T -> S (in Miyano; O(2) affinity up). VAR_002757
44F -> L (in Hirosaki; unstable). VAR_002758
45P -> L (in Milledgeville; O(2) affinityup; dbSNP:rs41514946).
45P -> R (in Kawachi; O(2) affinity up). VAR_002760
46H -> Q (in Bari). VAR_002761
46H -> R (in Fort de France; O(2) affinityup).
48D -> A (in Cordele; unstable). VAR_002763
48D -> G (in Umi/Michigan; unstable). VAR_002764
48D -> H (in Hasharon/Sinai; unstable). VAR_002765
48D -> Y (in Kurdistan). VAR_002766
49L -> R (in Montgomery). VAR_002767
50S -> R (in Savaria). VAR_002768
51H -> R (in Aichi; slightly unstable). VAR_002769
52G -> D (in J-Abidjan). VAR_002770
52G -> R (in Russ). VAR_002771
54A -> D (in J-Rovigo; unstable). VAR_002772
55Q -> R (in Hikoshima/Shimonoseki). VAR_002773
57K -> R (in Port Huron). VAR_002774
57K -> T (in Thailand). VAR_002775
58G -> R (in L-Persian Gulf). VAR_002776
59H -> Q (in Boghe). VAR_025388
59H -> Y (in M-Boston/M-Osaka; O(2)affinity down).
60G -> D (in Adana; unstable; causes alpha-thalassemia; dbSNP:rs28928878).
60G -> V (in Tottori; unstable). VAR_002779
61K -> N (in Zambia; dbSNP:rs28928887). VAR_002780
61Missing (in Clinic; unstable; causesalpha-thalassemia).
62K -> N (in J-Buda). VAR_002782
62K -> T (in J-Anatolia). VAR_002783
63V -> M (in Evans; unstable). VAR_002784
63Missing (in HBH; hemoglobin AghiaSophia).
64A -> D (in Pontoise; unstable). VAR_002785
65D -> Y (in Persepolis). VAR_002786
69N -> K (in G-Philadelphia;dbSNP:rs1060339).
72A -> E (in J-Habana). VAR_002788
72A -> V (in Ozieri). VAR_002789
73H -> R (in Daneskgah-Teheran). VAR_002790
75D -> A (in Lille). VAR_002791
75D -> G (in Chapel Hill). VAR_002792
75D -> N (in G-Pest). VAR_002793
76D -> A (in Duan). VAR_002794
76D -> H (in Q-Iran). VAR_002795
77M -> K (in Noko). VAR_002796
77M -> T (in Aztec). VAR_002797
78P -> R (in Guizhou). VAR_002798
79N -> H (in Davenport). VAR_002799
79N -> K (in Stanleyville-2). VAR_002800
80A -> G (in Singapore). VAR_012662
81L -> R (in Ann Arbor; unstable). VAR_002801
82S -> C (in Nigeria). VAR_002802
83A -> D (in Garden State). VAR_002803
85S -> R (in Etobicoke; O(2) affinity up). VAR_002804
86D -> V (in Inkster; O(2) affinity up). VAR_002805
86D -> Y (in Atago; O(2) affinity up). VAR_002806
87L -> R (in Moabit; unstable). VAR_002807
88H -> N (in Auckland; unstable). VAR_002808
88H -> R (in Iwata; unstable). VAR_002809
89A -> S (in Loire; O(2) affinity up). VAR_002810
91K -> M (in Handa; O(2) affinity up). VAR_002811
92L -> F (in dbSNP:rs17407508). VAR_049272
92L -> P (in Port Phillip; unstable;dbSNP:rs17407508).
93R -> Q (in J-Cape Town; O(2) affinityup).
93R -> W (in Cemenelum; O(2) affinity up). VAR_020775
95D -> A (in Bassett; markedly reducedoxygen affinity).
95D -> Y (in Setif; unstable). VAR_002814
96P -> A (in Denmark Hill; O(2) affinityup).
96P -> T (in Godavari; O(2) affinity up). VAR_002816
98N -> K (in Dallas; O(2) affinity up). VAR_002817
100K -> E (in Turriff). VAR_002818
103S -> R (in Manitoba; slightly unstable;dbSNP:rs41344646).
104H -> R (in Contaldo; unstable). VAR_002820
104H -> Y (in Charolles). VAR_025390
110L -> R (in Suan-Dok; unstable; causesalpha-thalassemia).
111A -> D (in Petah Tikva; unstable; causesalpha-thalassemia).
113H -> D (in Hopkins-II; unstable). VAR_002823
114L -> H (in Twin Peaks). VAR_002824
115P -> L (in Nouakchott). VAR_002825
115P -> R (in Chiapas). VAR_002826
115P -> S (in Melusine). VAR_002827
116A -> D (in J-Tongariki). VAR_002828
117E -> A (in Ube-4). VAR_002829
117E -> EHLPAE (in Zaire). VAR_002830
118F -> FI (in Phnom Penh). VAR_002831
119T -> TEFT (in Grady). VAR_002832
121A -> E (in J-Meerut/J-Birmingham). VAR_002833
122V -> M (in Owari). VAR_002834
123H -> Q (in Westmead). VAR_002835
126L -> P (in Quong Sze; causes alpha-thalassemia).
126L -> R (in Plasencia; family withmoderate microcytosis and hypochromia).
127D -> G (in West One). VAR_025392
127D -> V (in Fukutomi; O(2) affinity up). VAR_002837
127D -> Y (in Monteriore; O(2) affinity up). VAR_002838
128K -> N (in Jackson). VAR_002839
130L -> P (in Tunis-Bizerte; unstable;causes alpha-thalassemia).
131A -> D (in Yuda; O(2) affinity down). VAR_002842
131A -> P (in Sun Prairie; unstable). VAR_002841
132S -> P (in Questembert; highly unstable;causes alpha-thalassemia).
134S -> R (in Val de Marne; O(2) affinityup).
136V -> E (in Pavie). VAR_002845
137L -> M (in Chicago). VAR_002846
137L -> P (in Bibba; unstable; causes alpha-thalassemia).
137L -> R (in Toyama). VAR_035242
139S -> P (in Attleboro; O(2) affinity up). VAR_002848
140K -> E (in Hanamaki; O(2) affinity up). VAR_002849
140K -> T (in Tokoname; O(2) affinity up). VAR_002850
141Y -> H (in Rouen/Ethiopia; O(2) affinityup).
142R -> C (in Nunobiki; O(2) affinity up). VAR_002852
142R -> H (in Suresnes; O(2) affinity up). VAR_002854
142R -> L (in Legnano; O(2) affinity up). VAR_002853
142R -> P (in Singapore). VAR_002855
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
2Methylvaline---MVLSPA
---CCCCHH
7.93MeMo
Link
2none---MVLSPA
---CCCCHH
7.93HPRD
Link
4O-linked (GlcNAc)-MVLSPADK
-CCCCHHHH
13.46Phosphositeplus
Link
4Phosphoserine-MVLSPADK
-CCCCHHHH
13.46HPRD
Link
4Phosphoserine-MVLSPADK
-CCCCHHHH
13.46Phosphositeplus
Link
8N-linked (Glc) (glycation)SPADKTNVK
CHHHHHHHH
44.07HPRD
Link
8N-linked (Glc) (glycation).SPADKTNVK
CHHHHHHHH
44.07UniProtKB
Link
9PhosphothreoninePADKTNVKA
HHHHHHHHH
45.88HPRD
Link
9PhosphothreoninePADKTNVKA
HHHHHHHHH
45.88Phosphositeplus
Link
17N-linked (Glc) (glycation)AAWGKVGAH
HHHHHHHCC
27.13HPRD
Link
17N-linked (Glc) (glycation).AAWGKVGAH
HHHHHHHCC
27.13UniProtKB
Link
17N6-acetyllysineAAWGKVGAH
HHHHHHHCC
27.13HPRD
Link
17N6-acetyllysineAAWGKVGAH
HHHHHHHCC
27.13Phosphositeplus
Link
21MethylhistidineKVGAHAGEY
HHHCCHHHH
28.47MeMo
Link
25PhosphotyrosineHAGEYGAEA
CHHHHHHHH
22.25HPRD
Link
25PhosphotyrosineHAGEYGAEA
CHHHHHHHH
22.25PhosphoELM
Link
25PhosphotyrosineHAGEYGAEA
CHHHHHHHH
22.25Phosphositeplus
Link
25Phosphotyrosine.HAGEYGAEA
CHHHHHHHH
22.25UniProtKB
Link
36O-linked (GlcNAc)RMFLSFPTT
HHHHHCHHH
20.22Phosphositeplus
Link
41N-linked (Glc) (glycation).FPTTKTYFP
CHHHHHHHH
43.64UniProtKB
Link
43PhosphotyrosineTTKTYFPHF
HHHHHHHCC
19.37HPRD
Link
43PhosphotyrosineTTKTYFPHF
HHHHHHHCC
19.37PhosphoELM
Link
43PhosphotyrosineTTKTYFPHF
HHHHHHHCC
19.37Phosphositeplus
Link
43Phosphotyrosine.TTKTYFPHF
HHHHHHHCC
19.37UniProtKB
Link
53PhosphoserineLSHGSAQVK
CCCCCHHHH
15.31HPRD
Link
53PhosphoserineLSHGSAQVK
CCCCCHHHH
15.31Phosphositeplus
Link
62N-linked (Glc) (glycation)GHGKKVADA
HHHHHHHHH
47.44HPRD
Link
62N-linked (Glc) (glycation).GHGKKVADA
HHHHHHHHH
47.44UniProtKB
Link
105S-nitrosocysteineLLSHCLLVT
HHHHHHHHH
2.56dbSNO
Link
134O-linked (GlcNAc)LASVSTVLT
HHHHHHHHH
15.42Phosphositeplus
Link
141noneLTSKYR
HHHHCC
22.71HPRD
Link-
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
HBB_HUMANphysical interactionMINT-24813MINTmissing_pmid
HBG2_HUMANphysical interactionMINT-24785MINT881729
HBB_HUMANphysical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physica
DIP:44976EDIP9521756
9521756
9521756
9761903
9521756
9521756
9521756
9521756
9521756
HBA_HUMANphysical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physical interaction
physica
DIP:44967EDIP9521756
9521756
9665850
9521756
9761903
9521756
9521756
9521756
9521756
9521756
TSC1_HUMANphysical interactionEBI-1386707
intact17355907
HBB_HUMANphysical interaction
direct interaction
direct interaction
direct interaction
direct interaction
direct interaction
direct interaction
MI
EBI-732103
EBI-1027836
EBI-10
intact16169070
10390349
10930828
10930828
10930828
11724557
11724557
1552945
1552945
1552945
1552945
1552945
155294
HBB_HUMANyeast 2-hybridHPRD:00784HPRD16169070
NP1L1_HUMANyeast 2-hybridHPRD:00784HPRD16169070
PTEN_HUMANyeast 2-hybridHPRD:00784HPRD16169070
AHSP_HUMANENSP00000251595STRING
JUND_HUMANENSP00000322421STRING
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Disease Reference
Kegg disease
OMIM disease
140700Heinz body anemias (HEIBAN)
604131Alpha-thalassemia (A-THAL)
Note=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.
613978
Drug Reference
DrugBank
DB00893Iron Dextran
DB00358Mefloquine
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Related Literatures of Post-Translational Modification
N-linked Glycosylation
ReferencePubMed
"Sites of nonenzymatic glycosylation of human hemoglobin A.";
Shapiro R., McManus M.J., Zalut C., Bunn H.F.;
J. Biol. Chem. 255:3120-3127(1980).
Cited for: GLYCATION AT LYS-8; LYS-17; LYS-41 AND LYS-62, AND LACK OF GLYCATIONAT LYS-12; LYS-57; LYS-61; LYS-91 AND LYS-100.
Phosphorylation
ReferencePubMed
"Global survey of phosphotyrosine signaling identifies oncogenickinases in lung cancer.";
Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J.,Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L.,Mitchell J., Wetzel R., Macneill J., Ren J.M., Yuan J.,Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X.,Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J.;
Cell 131:1190-1203(2007).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-25 AND TYR-43, AND MASSSPECTROMETRY.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures