HBA_HUMAN
Source: hRBCD ; ID: IPI00410714PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: HBA1
Protein names and data: HBA_HUMAN , Hemoglobin subunit alpha , Alpha-globin; Hemoglobin alpha chain Lenght: 142 a.a.
Mass: 15258 Da
fasta formatted sequence
Function: Involved in oxygen transport from the lung to the various peripheral tissues.
Disease: ( OMIM: 140700 141800 141850 141860 604131 613978 ) Heinz body anemias (HEIBAN) [MIM:140700]: Form 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. Note=The disease may be caused by mutations affecting the gene represented in this entry. Alpha-thalassemia (A-THAL) [MIM:604131]: A 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). Note=The disease is caused by mutations affecting the gene represented in this entry. 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. Hemoglobin H disease (HBH) [MIM:613978]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Red blood cells.
Genetic variants
2 - 2 V -> E (in Thionville; O(2) affinity down). VAR_0027193 - 3 L -> R (in ChongQing; O(2) affinity up; dbSNP:rs36030576). VAR_002720 36030576
6 - 6 A -> D (in J-Toronto; dbSNP:rs34090856). VAR_002721 34090856
6 - 6 A -> P (in Karachi; dbSNP:rs34751764). VAR_002722 34751764
7 - 7 D -> A (in Sawara; O(2) affinity up; dbSNP:rs33986902). VAR_002723 33986902
7 - 7 D -> G (in Swan River). VAR_002724
7 - 7 D -> N (in Dunn; O(2) affinity up; dbSNP:rs33961916). VAR_002725 33961916
7 - 7 D -> V (in Ferndown; O(2) affinity up). VAR_002726
7 - 7 D -> Y (in Woodville; O(2) affinity up). VAR_002727
8 - 8 K -> E (in Kurosaki; dbSNP:rs34817956). VAR_002728 34817956
10 - 10 N -> T (in Broomfield). VAR_038149
11 - 11 V -> F (in dbSNP:rs1799896). VAR_014605 1799896
12 - 12 K -> E (in Anantharaj). VAR_002729
13 - 13 A -> D (in J-Paris 1/J-Aljezur; dbSNP:rs35615982). VAR_002730 35615982
14 - 14 A -> P (in Ravenscourt Park; causes alpha-thalassemia; dbSNP:rs35331909). VAR_038150 35331909
15 - 15 W -> R (in Evanston; O(2) affinity up; dbSNP:rs33964317). VAR_002731 33964317
16 - 16 G -> R (in Ottawa/Siam; dbSNP:rs35816645). VAR_002732 35816645
17 - 17 K -> M (in Harbin; slightly unstable; dbSNP:rs35210126). VAR_002733 35210126
17 - 17 K -> N (in Beijing; dbSNP:rs33923844). VAR_002734 33923844
19 - 19 G -> D (in Al-Ain Abu Dhabi; dbSNP:rs35993097). VAR_002735 35993097
19 - 19 G -> R (in Handsworth; dbSNP:rs34504387). VAR_002736 34504387
20 - 20 A -> D (in J-Kurosh). VAR_002737
20 - 20 A -> E (in J-Tashikuergan; dbSNP:rs35628685). VAR_002738 35628685
21 - 21 H -> Q (in Le Lamentin; dbSNP:rs41525149). VAR_002739 41525149
21 - 21 H -> R (in Hobart; dbSNP:rs33943087). VAR_002740 33943087
22 - 22 A -> D (in J-Nyanza; dbSNP:rs11548605). VAR_002741 11548605
22 - 22 A -> P (in Fontainebleau; dbSNP:rs34324664). VAR_002742 34324664
23 - 23 G -> D (in J-Medellin; dbSNP:rs34608326). VAR_002743 34608326
24 - 24 E -> G (in Reims; slightly unstable; dbSNP:rs33939421). VAR_002744 33939421
24 - 24 E -> K (in Chad). VAR_002745
25 - 25 Y -> H (in Luxembourg; unstable). VAR_002746
27 - 27 A -> E (in Shenyang; unstable). VAR_002747
27 - 27 A -> V (in Campinas). VAR_025387
28 - 28 E -> D (in Hekinan). VAR_002748
28 - 28 E -> G (in Fort Worth). VAR_002749
28 - 28 E -> V (in Spanish town). VAR_002750
31 - 31 E -> K (in O-Padova). VAR_002751
32 - 32 R -> K (causes alpha-thalassemia). VAR_025002
32 - 32 R -> S (in Prato; unstable). VAR_002752
35 - 35 L -> R (in Queens/Ogi). VAR_002753
38 - 38 P -> PE (in Catonsville). VAR_002755
38 - 38 P -> R (in Bourmedes). VAR_002754
41 - 41 K -> M (in Kanagawa; O(2) affinity up). VAR_002756
42 - 42 T -> S (in Miyano; O(2) affinity up). VAR_002757
44 - 44 F -> L (in Hirosaki; unstable). VAR_002758
45 - 45 P -> L (in Milledgeville; O(2) affinity up; dbSNP:rs41514946). VAR_002759 41514946
45 - 45 P -> R (in Kawachi; O(2) affinity up). VAR_002760
46 - 46 H -> Q (in Bari). VAR_002761
46 - 46 H -> R (in Fort de France; O(2) affinity up). VAR_002762
48 - 48 D -> A (in Cordele; unstable). VAR_002763
48 - 48 D -> G (in Umi/Michigan; unstable). VAR_002764
48 - 48 D -> H (in Hasharon/Sinai; unstable). VAR_002765
48 - 48 D -> Y (in Kurdistan). VAR_002766
49 - 49 L -> R (in Montgomery). VAR_002767
50 - 50 S -> R (in Savaria). VAR_002768
51 - 51 H -> R (in Aichi; slightly unstable). VAR_002769
52 - 52 G -> D (in J-Abidjan). VAR_002770
52 - 52 G -> R (in Russ). VAR_002771
54 - 54 A -> D (in J-Rovigo; unstable). VAR_002772
55 - 55 Q -> R (in Hikoshima/Shimonoseki). VAR_002773
57 - 57 K -> R (in Port Huron). VAR_002774
57 - 57 K -> T (in Thailand). VAR_002775
58 - 58 G -> R (in L-Persian Gulf). VAR_002776
59 - 59 H -> Q (in Boghe). VAR_025388
59 - 59 H -> Y (in M-Boston/M-Osaka; O(2) affinity down). VAR_002777
60 - 60 G -> D (in Adana; unstable; causes alpha- thalassemia; dbSNP:rs28928878). VAR_002778 28928878
60 - 60 G -> V (in Tottori; unstable). VAR_002779
61 - 61 K -> N (in Zambia; dbSNP:rs28928887). VAR_002780 28928887
61 - 61 Missing (in Clinic; unstable; causes alpha-thalassemia). VAR_002781
62 - 62 K -> N (in J-Buda). VAR_002782
62 - 62 K -> T (in J-Anatolia). VAR_002783
63 - 63 V -> M (in Evans; unstable). VAR_002784
63 - 63 Missing (in HBH; hemoglobin Aghia Sophia). VAR_066401
64 - 64 A -> D (in Pontoise; unstable). VAR_002785
65 - 65 D -> Y (in Persepolis). VAR_002786
69 - 69 N -> K (in G-Philadelphia; dbSNP:rs1060339). VAR_002787 1060339
72 - 72 A -> E (in J-Habana). VAR_002788
72 - 72 A -> V (in Ozieri). VAR_002789
73 - 73 H -> R (in Daneskgah-Teheran). VAR_002790
75 - 75 D -> A (in Lille). VAR_002791
75 - 75 D -> G (in Chapel Hill). VAR_002792
75 - 75 D -> N (in G-Pest). VAR_002793
76 - 76 D -> A (in Duan). VAR_002794
76 - 76 D -> H (in Q-Iran). VAR_002795
77 - 77 M -> K (in Noko). VAR_002796
77 - 77 M -> T (in Aztec). VAR_002797
78 - 78 P -> R (in Guizhou). VAR_002798
79 - 79 N -> H (in Davenport). VAR_002799
79 - 79 N -> K (in Stanleyville-2). VAR_002800
80 - 80 A -> G (in Singapore). VAR_012662
81 - 81 L -> R (in Ann Arbor; unstable). VAR_002801
82 - 82 S -> C (in Nigeria). VAR_002802
83 - 83 A -> D (in Garden State). VAR_002803
85 - 85 S -> R (in Etobicoke; O(2) affinity up). VAR_002804
86 - 86 D -> V (in Inkster; O(2) affinity up). VAR_002805
86 - 86 D -> Y (in Atago; O(2) affinity up). VAR_002806
87 - 87 L -> R (in Moabit; unstable). VAR_002807
88 - 88 H -> N (in Auckland; unstable). VAR_002808
88 - 88 H -> R (in Iwata; unstable). VAR_002809
89 - 89 A -> S (in Loire; O(2) affinity up). VAR_002810
91 - 91 K -> M (in Handa; O(2) affinity up). VAR_002811
92 - 92 L -> F (in dbSNP:rs17407508). VAR_049272 17407508
92 - 92 L -> P (in Port Phillip; unstable; dbSNP:rs17407508). VAR_002812 17407508
93 - 93 R -> Q (in J-Cape Town; O(2) affinity up). VAR_002813
93 - 93 R -> W (in Cemenelum; O(2) affinity up). VAR_020775
95 - 95 D -> A (in Bassett; markedly reduced oxygen affinity). VAR_025389
95 - 95 D -> Y (in Setif; unstable). VAR_002814
96 - 96 P -> A (in Denmark Hill; O(2) affinity up). VAR_002815
96 - 96 P -> T (in Godavari; O(2) affinity up). VAR_002816
98 - 98 N -> K (in Dallas; O(2) affinity up). VAR_002817
100 - 100 K -> E (in Turriff). VAR_002818
103 - 103 S -> R (in Manitoba; slightly unstable; dbSNP:rs41344646). VAR_002819 41344646
104 - 104 H -> R (in Contaldo; unstable). VAR_002820
104 - 104 H -> Y (in Charolles). VAR_025390
110 - 110 L -> R (in Suan-Dok; unstable; causes alpha-thalassemia). VAR_002821
111 - 111 A -> D (in Petah Tikva; unstable; causes alpha-thalassemia). VAR_002822
113 - 113 H -> D (in Hopkins-II; unstable). VAR_002823
114 - 114 L -> H (in Twin Peaks). VAR_002824
115 - 115 P -> L (in Nouakchott). VAR_002825
115 - 115 P -> R (in Chiapas). VAR_002826
115 - 115 P -> S (in Melusine). VAR_002827
116 - 116 A -> D (in J-Tongariki). VAR_002828
117 - 117 E -> A (in Ube-4). VAR_002829
117 - 117 E -> EHLPAE (in Zaire). VAR_002830
118 - 118 F -> FI (in Phnom Penh). VAR_002831
119 - 119 T -> TEFT (in Grady). VAR_002832
121 - 121 A -> E (in J-Meerut/J-Birmingham). VAR_002833
122 - 122 V -> M (in Owari). VAR_002834
123 - 123 H -> Q (in Westmead). VAR_002835
126 - 126 L -> P (in Quong Sze; causes alpha- thalassemia). VAR_002836
126 - 126 L -> R (in Plasencia; family with moderate microcytosis and hypochromia). VAR_025391
127 - 127 D -> G (in West One). VAR_025392
127 - 127 D -> V (in Fukutomi; O(2) affinity up). VAR_002837
127 - 127 D -> Y (in Monteriore; O(2) affinity up). VAR_002838
128 - 128 K -> N (in Jackson). VAR_002839
130 - 130 L -> P (in Tunis-Bizerte; unstable; causes alpha-thalassemia). VAR_002840
131 - 131 A -> D (in Yuda; O(2) affinity down). VAR_002842
131 - 131 A -> P (in Sun Prairie; unstable). VAR_002841
132 - 132 S -> P (in Questembert; highly unstable; causes alpha-thalassemia). VAR_002843
134 - 134 S -> R (in Val de Marne; O(2) affinity up). VAR_002844
136 - 136 V -> E (in Pavie). VAR_002845
137 - 137 L -> M (in Chicago). VAR_002846
137 - 137 L -> P (in Bibba; unstable; causes alpha- thalassemia). VAR_002847
137 - 137 L -> R (in Toyama). VAR_035242
139 - 139 S -> P (in Attleboro; O(2) affinity up). VAR_002848
140 - 140 K -> E (in Hanamaki; O(2) affinity up). VAR_002849
140 - 140 K -> T (in Tokoname; O(2) affinity up). VAR_002850
141 - 141 Y -> H (in Rouen/Ethiopia; O(2) affinity up). VAR_002851
142 - 142 R -> C (in Nunobiki; O(2) affinity up). VAR_002852
142 - 142 R -> H (in Suresnes; O(2) affinity up). VAR_002854
142 - 142 R -> L (in Legnano; O(2) affinity up). VAR_002853
142 - 142 R -> P (in Singapore). VAR_002855
Database cross-references
UniProt: P69905Ensembl: ENST00000251595
Ensembl: ENST00000320868
MIM: 140700
MIM: 141800
MIM: 141850
MIM: 141860
MIM: 604131
MIM: 613978
neXtProt: NX_P69905
Antibodypedia: P69905 (may not find the protein thus also not any antibody)
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