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

UniProtKB / Swiss-Prot ID :  HBB_HUMAN

Gene Name (Synonyms) : 
HBB  

Species :  Homo sapiens (Human). 

Subcellular Localization :   

Protein Function :  Involved in oxygen transport from the lung to the various peripheral tissues. LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure. 

Protein Sequence MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLG...
Predicted Secondary Structure CCCCCHHHHHHHHHHHHCCCHHHHHHHHHHHHHHHCHHHHHHHHHHCCCCCHHHCCCCHHHHHHHHHHHH...
Protein Variant
LocationDescription
2V -> A (in Raleigh; O(2) affinity down;dbSNP:rs33949930).
3H -> L (in Graz; dbSNP:rs35906307). VAR_002857
3H -> Q (in Okayama; O(2) affinity up;dbSNP:rs713040).
3H -> R (in Deer Lodge; O(2) affinity up;dbSNP:rs33983205).
3H -> Y (in Fukuoka; dbSNP:rs35906307). VAR_002860
6P -> R (in Warwickshire;dbSNP:rs34769005).
7E -> A (in G-Makassar). VAR_002862
7E -> K (in C). VAR_002864
7E -> Q (in Machida; dbSNP:rs33930165). VAR_002865
7E -> V (in S; sickle cell anemia;dbSNP:rs334).
8E -> G (in G-San Jose; mildly unstable;dbSNP:rs34948328).
8E -> K (in G-Siriraj; dbSNP:rs34948328). VAR_002867
9K -> E (in N-Timone; dbSNP:rs33932981). VAR_002868
9K -> Q (in J-Luhe; dbSNP:rs33926764). VAR_002869
9K -> T (in Rio Grande). VAR_002870
10S -> C (in Porto Alegre; O(2) affinityup; dbSNP:rs33918131).
11A -> D (in Ankara; dbSNP:rs33947457). VAR_002872
11A -> V (in Iraq-Halabja). VAR_025393
12V -> D (in Windsor; O(2) affinity up;unstable; dbSNP:rs33974228).
12V -> I (in Hamilton). VAR_002874
14A -> D (in J-Lens; dbSNP:rs35203747). VAR_002875
15L -> P (in Saki; unstable). VAR_002876
15L -> R (in Soegn; unstable;dbSNP:rs33935445).
16W -> G (in Randwick; unstable;dbSNP:rs33946157).
16W -> R (in Belfast; O(2) affinity up;unstable; dbSNP:rs33946157).
17G -> D (in J-Baltimore/J-Trinidad/J-Ireland/J-Georgia/N-New Haven).
17G -> R (in D-Bushman). VAR_002881
18K -> E (in Nagasaki; dbSNP:rs33986703). VAR_002882
18K -> N (in J-Amiens; dbSNP:rs36006214). VAR_002883
18K -> Q (in Nikosia; dbSNP:rs33986703). VAR_002884
19V -> M (in Baden; slightly unstable;dbSNP:rs35802118).
20N -> D (in Alamo; dbSNP:rs34866629). VAR_002886
20N -> K (in D-Ouleh RABAH). VAR_002887
20N -> S (in Malay; dbSNP:rs33972047). VAR_002888
21V -> M (in Olympia; O(2) affinity up;dbSNP:rs35890959).
22D -> G (in Connecticut; O(2) affinitydown; dbSNP:rs33977536).
22D -> H (in Karlskoga; dbSNP:rs33950093). VAR_002892
22D -> N (in Cocody). VAR_002891
22D -> Y (in Yusa). VAR_002893
23E -> A (in G-Coushatta/G-Saskatoon/G-Taegu/Hsin Chu; dbSNP:rs33936254).
23E -> G (in G-Taipei). VAR_002895
23E -> K (in E-Saskatoon; unstable). VAR_002896
23E -> Q (in D-Iran). VAR_002897
23E -> V (in D-Granada). VAR_002898
24V -> D (in Strasbourg; O(2) affinity up). VAR_002899
24V -> F (in Palmerston North; O(2)affinity up; unstable).
24V -> G (in Miyashiro; O(2) affinity up;unstable).
25G -> D (in Moscva; O(2) affinity down;unstable).
25G -> R (in Riverdale-Bronx; O(2) affinityup; unstable).
25G -> V (in Savannah; unstable). VAR_002904
26G -> D (in J-Auckland; unstable; O(2)affinity down).
26G -> R (in G-Taiwan Ami). VAR_002906
27E -> K (in E). VAR_002907
27E -> V (in Henri Mondor; slightlyunstable).
28A -> D (in Volga/Drenthe; unstable). VAR_002909
28A -> S (in Knossos). VAR_002910
28A -> V (in Grange-blanche; O(2) affinityup).
29L -> P (in Genova/Hyogo; unstable). VAR_002912
29L -> Q (in St Louis). VAR_035236
30G -> D (in Lufkin; unstable). VAR_002913
31R -> S (in Tacoma; unstable). VAR_002914
32L -> P (in Yokohama; unstable). VAR_002915
33L -> R (in Castilla; unstable). VAR_002916
33L -> V (in Muscat; slightly unstable). VAR_002917
35V -> D (in Santander; unstable). VAR_025394
35V -> F (in Pitie-Salpetriere; O(2)affinity up).
35V -> L (in Nantes; increased oxygenaffinity).
36Y -> F (in Philly; O(2) affinity up;unstable).
37P -> R (in Sunnybrook). VAR_002920
37P -> S (in North Chicago; O(2) affinityup).
37P -> T (in Linkoping/Finlandia; O(2)affinity up).
38W -> G (in Howick). VAR_002923
38W -> R (in Rothschild; O(2) affinitydown).
38W -> S (in Hirose; O(2) affinity up). VAR_002924
39T -> N (in Hinwil; O(2) affinity up). VAR_002926
40Q -> E (in Vaasa; unstable). VAR_002927
40Q -> K (in Alabama). VAR_002928
40Q -> R (in Tianshui). VAR_002929
42F -> Y (in Mequon). VAR_002930
42Missing (in Bruxelles). VAR_035237
43F -> L (in Louisville; unstable). VAR_002931
43F -> S (in Hammersmith). VAR_035239
43Missing (in Bruxelles). VAR_035238
44E -> Q (in Hoshida/Chaya). VAR_002932
45S -> C (in Mississippi). VAR_002933
46F -> S (in Cheverly; unstable). VAR_002934
47G -> E (in K-Ibadan). VAR_002935
48D -> A (in Avicenna). VAR_002936
48D -> G (in Gavello). VAR_002937
48D -> Y (in Maputo). VAR_002938
49L -> P (in Bab-Saadoum; slightlyunstable).
50S -> F (in Las Palmas; slightlyunstable).
51T -> K (in Edmonton). VAR_002941
52P -> R (in Willamette; O(2) affinity up;unstable).
53D -> A (in Ocho Rios). VAR_002943
53D -> H (in Summer Hill). VAR_002944
55V -> D (in Jacksonville; O(2) affinityup; unstable).
56M -> K (in Matera; unstable). VAR_002946
57G -> R (in Hamadan). VAR_002947
58N -> K (in G-ferrara; unstable). VAR_002948
59P -> R (in Dhofar/Yukuhashi). VAR_002949
60K -> E (in I-High Wycombe). VAR_002950
61V -> A (in Collingwood; unstable). VAR_002951
62K -> E (in N-Seatlle). VAR_002952
62K -> M (in Bologna; O(2) affinity down). VAR_002953
62K -> N (in Hikari). VAR_002954
63A -> D (in J-Europa). VAR_002955
63A -> P (in Duarte; unstable). VAR_002956
64H -> Y (in M-Saskatoon; O(2) affinityup).
66K -> M (in J-Antakya). VAR_002958
66K -> N (in J-Sicilia). VAR_002959
66K -> Q (in J-Cairo). VAR_002960
67K -> T (in Chico; O(2) affinity down). VAR_002961
68V -> A (in Sydney; unstable). VAR_002962
68V -> D (in Bristol). VAR_035240
68V -> G (in non-spherocytic haemolyticanemia; Manukau; dbSNP:rs33918343).
68V -> M (in Alesha; unstable). VAR_002963
69L -> H (in Brisbane; O(2) affinity up). VAR_002964
69L -> P (in Mizuho; unstable). VAR_002965
70G -> D (in Rambam). VAR_002966
70G -> R (in Kenitra). VAR_002967
70G -> S (in City of Hope). VAR_002968
71A -> D (in Seattle; O(2) affinity down;unstable).
72F -> S (in Christchurch; unstable). VAR_002970
74D -> G (in Tilburg; O(2) affinity down). VAR_002971
74D -> V (in Mobile; O(2) affinity down). VAR_002972
74D -> Y (in Vancouver; O(2) affinitydown).
75G -> R (in Aalborg; unstable). VAR_002974
75G -> V (in Bushwick; unstable). VAR_002975
76L -> P (in Atlanta; unstable). VAR_002976
76L -> R (in Pasadena; O(2) affinity up;unstable).
77A -> D (in J-Chicago). VAR_002978
78H -> D (in J-Iran). VAR_002979
78H -> R (in Costa Rica). VAR_002980
78H -> Y (in Fukuyama). VAR_002981
79L -> R (in Quin-hai). VAR_002982
80D -> Y (in Tampa). VAR_002983
81N -> K (in G-Szuhu/Gifu). VAR_002984
82L -> H (in La Roche-sur-Yon; unstable andO(2) affinity up).
82L -> R (in Baylor; unstable). VAR_002985
82L -> V (in dbSNP:rs11549406). VAR_049273
83K -> M (in Helsinki; O(2) affinity up). VAR_002986
83K -> N (in Providence). VAR_012664
84G -> D (in Pyrgos). VAR_025396
84G -> R (in Muskegon). VAR_002987
85T -> I (in Kofu). VAR_002988
87A -> D (in Olomouc; O(2) affinity up). VAR_002989
88T -> I (in Quebec-Chori). VAR_002990
88T -> K (in D-Ibadan). VAR_002991
88T -> P (in Valletta). VAR_002992
89L -> P (in Santa Ana; unstable). VAR_002993
89L -> R (in Boras; unstable). VAR_002994
90S -> N (in Creteil; O(2) affinity up). VAR_002995
90S -> R (in Vanderbilt; O(2) affinity up). VAR_002996
91E -> D (in Pierre-Benite; O(2) affinityup).
91E -> K (in Agenogi; O(2) affinity down). VAR_002998
92L -> P (in Sabine; unstable). VAR_002999
92L -> R (in Caribbean; O(2) affinity down;unstable).
93H -> D (in J-Altgelds Gardens; unstable). VAR_003001
93H -> N (in Isehara; unstable). VAR_003002
93H -> P (in Newcastle and Duino;associated with S-104 in Duino;
93H -> Q (in Istambul; O(2) affinity up;unstable).
94C -> R (in Okazaki; O(2) affinity up;unstable).
95D -> G (in Chandigarh). VAR_003006
95D -> H (in Barcelona; O(2) affinity up). VAR_003007
95D -> N (in Bunbury; O(2) affinity up). VAR_003008
96K -> M (in J-Cordoba). VAR_003009
96K -> N (in Detroit). VAR_003010
97L -> P (in Debrousse; unstable; O(2)affinity up).
97L -> V (in Regina; O(2) affinity up). VAR_003012
98H -> L (in Wood; O(2) affinity up). VAR_003013
98H -> P (in Nagoya; O(2) affinity up;unstable).
98H -> Q (in Malmoe; O(2) affinity up). VAR_003015
98H -> Y (in Moriguchi). VAR_003016
99V -> G (in Nottingham; unstable). VAR_003017
100D -> E (in Coimbra; O(2) affinity up). VAR_003018
101P -> L (in Brigham; O(2) affinity up). VAR_003019
101P -> R (in New Mexico). VAR_003020
102E -> D (in Potomac; O(2) affinity up). VAR_003021
102E -> G (in Alberta; O(2) affinity up). VAR_003022
102E -> K (in British Columbia; O(2)affinity up).
102E -> Q (in Rush; unstable). VAR_003024
103N -> S (in Beth Israel; O(2) affinitydown; unstable).
103N -> Y (in St Mande; O(2) affinity down). VAR_003026
104F -> L (in Heathrow; O(2) affinity up). VAR_003027
105R -> S (in Camperdown and Duino;associated with P-92 in Duino; unstable).
105R -> T (in Sherwood Forest). VAR_003029
108G -> R (in Burke; O(2) affinity down;unstable).
109N -> K (in Presbyterian; O(2) affinitydown; unstable).
110V -> M (in San Diego; O(2) affinity up). VAR_003032
111L -> P (in Showa-Yakushiji). VAR_003033
112V -> A (in Stanmore; O(2) affinity down;unstable).
113C -> F (in Canterbury). VAR_025397
113C -> R (in Indianapolis). VAR_003035
113C -> Y (in Yahata). VAR_003036
115L -> M (in Zengcheng). VAR_010144
115L -> P (in Durham-N.C./Brescia; causesbeta-thalassemia).
116A -> D (in Hradec Kralove; unstable;causes severe beta-thalassemia).
116A -> P (in Madrid; unstable). VAR_003038
117H -> L (in Vexin; increased oxygenaffinity).
117H -> Q (in Hafnia). VAR_003039
118H -> P (in Saitama; unstable). VAR_003040
118H -> R (in P-Galveston). VAR_003041
118H -> Y (in Tsukumi). VAR_025399
120G -> A (in Iowa). VAR_003042
121K -> E (in Hijiyama). VAR_003043
121K -> I (in Jianghua). VAR_003044
121K -> Q (in Takamatsu). VAR_003045
122E -> A (in D-Neath). VAR_003046
122E -> G (in St Francis). VAR_003047
122E -> K (in O-Arab). VAR_003049
122E -> Q (in D-Los Angeles/D-Punjab/D-Portugal/D-Chicago/D-Oak Ridge).
122E -> V (in D-Camperdown/Beograd). VAR_003050
124T -> I (in Villejuif; asymptomaticvariant).
125P -> Q (in Ty Gard; O(2) affinity up). VAR_003053
125P -> R (in Khartoum; unstable). VAR_003052
125P -> S (in Tunis). VAR_003054
127V -> A (in Beirut). VAR_003055
127V -> E (in Hofu; unstable). VAR_003057
127V -> G (in Dhonburi/Neapolis; unstable;beta-thalassemia).
128Q -> E (in Complutense). VAR_003058
128Q -> K (in Brest; unstable). VAR_003059
129A -> D (in J-Guantanamo; unstable). VAR_003060
130A -> P (in Crete; O(2) affinity up;unstable).
130A -> V (in La Desirade; O(2) affinitydown; unstable).
131Y -> D (in Wien; unstable). VAR_003063
131Y -> S (in Nevers). VAR_003064
132Q -> E (in Camden/Tokuchi/Motown). VAR_003065
132Q -> K (in Shelby/Leslie/Deaconess;unstable).
132Q -> P (in Shangai; unstable). VAR_003067
132Q -> R (in Sarrebourg; unstable). VAR_003068
133K -> N (in Yamagata; O(2) affinity down). VAR_003069
133K -> Q (in K-Woolwich). VAR_003070
134V -> L (in Extredemura). VAR_003071
135V -> E (in North Shore-Caracas;unstable).
136A -> E (in Beckman; O(2) affinity down;unstable).
136A -> P (in Altdorf; O(2) affinity up;unstable).
137G -> D (in Hope; O(2) affinity down;unstable).
139A -> P (in Brockton; unstable). VAR_003076
140N -> D (in Geelong; unstable). VAR_003077
140N -> K (in Hinsdale; O(2) affinity down). VAR_003078
140N -> S (in S-Wake; associated with V-6). VAR_025335
140N -> Y (in Aurora; O(2) affinity up). VAR_003079
141A -> D (in Himeji; unstable; O(2)affinity down).
141A -> T (in St Jacques: O(2) affinity up). VAR_003081
141A -> V (in Puttelange; polycythemia; O(2)affinity up).
142L -> R (in Olmsted; unstable). VAR_003083
143A -> D (in Ohio; O(2) affinity up). VAR_003084
144H -> D (in Rancho Mirage). VAR_003085
144H -> P (in Syracuse; O(2) affinity up). VAR_003087
144H -> Q (in Little Rock; O(2) affinityup).
144H -> R (in Abruzzo; O(2) affinity up). VAR_003088
145K -> E (in Mito; O(2) affinity up). VAR_003089
146Y -> C (in Rainier; O(2) affinity up). VAR_003090
146Y -> H (in Bethesda; O(2) affinity up). VAR_003091
147H -> D (in Hiroshima; O(2) affinity up). VAR_003092
147H -> L (in Cowtown; O(2) affinity up). VAR_003093
147H -> P (in York; O(2) affinity up). VAR_003094
147H -> Q (in Kodaira; O(2) affinity up). VAR_003095
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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
2N-acetylalanine; in variant Raleigh.---MVHLTP
---CCCCCH
5.21UniProtKB
Link
2N-linked (Glc) (glycation); in Hb A1c.---MVHLTP
---CCCCCH
5.21UniProtKB
Link
2N-pyruvate 2-iminyl-valine; in Hb A1b.---MVHLTP
---CCCCCH
5.21UniProtKB
Link
2none---MVHLTP
---CCCCCH
5.21HPRD
Link
5PhosphothreonineMVHLTPEEK
CCCCCHHHH
17.49HPRD
Link
5PhosphothreonineMVHLTPEEK
CCCCCHHHH
17.49Phosphositeplus
Link
9N-linked (Glc) (glycation)TPEEKSAVT
CHHHHHHHH
41.89HPRD
Link
9N-linked (Glc) (glycation).TPEEKSAVT
CHHHHHHHH
41.89UniProtKB
Link
10PhosphoserinePEEKSAVTA
HHHHHHHHH
31.11HPRD
Link
10PhosphoserinePEEKSAVTA
HHHHHHHHH
31.11Phosphositeplus
Link
18N-linked (Glc) (glycation).ALWGKVNVD
HHHHCCCHH
21.03UniProtKB
Link
18N6-acetyllysineALWGKVNVD
HHHHCCCHH
21.03Phosphositeplus
Link
36PhosphotyrosineLLVVYPWTQ
HHHHCHHHH
5.88Phosphositeplus
Link
45PhosphoserineRFFESFGDL
HHHHHHCCC
29.40HPRD
Link
45PhosphoserineRFFESFGDL
HHHHHHCCC
29.40Phosphositeplus
Link
50O-linked (GlcNAc)FGDLSTPDA
HCCCCCHHH
42.51Phosphositeplus
Link
50PhosphoserineFGDLSTPDA
HCCCCCHHH
42.51HPRD
Link
50PhosphoserineFGDLSTPDA
HCCCCCHHH
42.51Phosphositeplus
Link
67N-linked (Glc) (glycation)AHGKKVLGA
HHHHHHHHH
47.48HPRD
Link
67N-linked (Glc) (glycation).AHGKKVLGA
HHHHHHHHH
47.48UniProtKB
Link
73O-linked (GlcNAc)LGAFSDGLA
HHHHHHHHH
30.18Phosphositeplus
Link
73PhosphoserineLGAFSDGLA
HHHHHHHHH
30.18HPRD
Link
85O-linked (GlcNAc)NLKGTFATL
CHHHHHHHH
14.44Phosphositeplus
Link
94S-methylcysteineSELHCDKLH
HHHHHHHCC
8.46HPRD
Link
94S-nitrosocysteineSELHCDKLH
HHHHHHHCC
8.46dbSNO
Link
94S-nitrosocysteineSELHCDKLH
HHHHHHHCC
8.46HPRD
Link
94S-nitrosocysteine.SELHCDKLH
HHHHHHHCC
8.46UniProtKB
Link
121N-linked (Glc) (glycation)HHFGKEFTP
HHCCCCCCH
49.03HPRD
Link
121N-linked (Glc) (glycation).HHFGKEFTP
HHCCCCCCH
49.03UniProtKB
Link
131PhosphotyrosineVQAAYQKVV
HHHHHHHHH
16.34HPRD
Link
131PhosphotyrosineVQAAYQKVV
HHHHHHHHH
16.34PhosphoELM
Link
131PhosphotyrosineVQAAYQKVV
HHHHHHHHH
16.34Phosphositeplus
Link
131Phosphotyrosine.VQAAYQKVV
HHHHHHHHH
16.34UniProtKB
Link
145N-linked (Glc) (glycation).ALAHKYH
HHHHCCC
39.14UniProtKB
Link
145N6-acetyllysineALAHKYH
HHHHCCC
39.14HPRD
Link
145N6-acetyllysineALAHKYH
HHHHCCC
39.14Phosphositeplus
Link
146PhosphotyrosineLAHKYH
HHHCCC
11.68Phosphositeplus
Link-
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
HBB_HUMANphysical interactionDIP:44966EDIP9761903
SELT_HUMANphysical interactionEBI-734742
intact16169070
HPT_HUMANin vivoHPRD:00786HPRD7378053
HBB_HUMANin vitroHPRD:00786HPRD1512262
6726807
6644819
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Disease Reference
Kegg disease
OMIM disease
140700Heinz body anemias (HEIBAN)
613985Beta-thalassemia (B-THAL)
603903Sickle cell anemia (SKCA)
603902Beta-thalassemia, dominant, inclusion body type (B-THALIB)
Drug Reference
DrugBank
DB00893Iron Dextran
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Related Literatures of Post-Translational Modification
N-linked Glycosylation
ReferencePubMed
"The glycosylation of hemoglobin: relevance to diabetes mellitus.";
Bunn H.F., Gabbay K.H., Gallop P.M.;
Science 200:21-27(1978).
Cited for: GLYCATION AT VAL-2.
"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-9; LYS-18; LYS-67; LYS-121 AND LYS-145, AND LACK OFGLYCATION AT LYS-60; LYS-83 AND LYS-96.
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-131, AND MASSSPECTROMETRY.
S-nitrosylation
ReferencePubMed
"S-nitrosohaemoglobin: a dynamic activity of blood involved invascular control.";
Jia L., Bonaventura C., Bonaventura J., Stamler J.S.;
Nature 380:221-226(1996).
Cited for: S-NITROSYLATION AT CYS-94.
"Crystal structure of the S-nitroso form of liganded humanhemoglobin.";
Chan N.L., Rogers P.H., Arnone A.;
Biochemistry 37:16459-16464(1998).
Cited for: S-NITROSYLATION AT CYS-94.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures