HBG1_HUMAN
Source:
hRBCD
; ID:
IPI00220706
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
HBG1
, PRO2979
Protein names and data:
HBG1_HUMAN
, Hemoglobin subunit gamma-1
, Gamma-1-globin; Hb F Agamma; Hemoglobin gamma-1 chain; Hemoglobin gamma-A chain
Lenght: 147 a.a.
Mass: 16140 Da
fasta formatted sequence
Function:
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Tissue specificity:
Red blood cells.
Genetic variants
3 - 3
H -> Q (in Macedonia-I; dbSNP:rs35315638). VAR_003124
35315638
6 - 6
E -> K (in Texas-1; dbSNP:rs34427034). VAR_003125
34427034
7 - 7
E -> G (in Izumi/Kotobuki; dbSNP:rs34432567). VAR_003127
34432567
7 - 7
E -> Q (in Pordenone; dbSNP:rs33924825). VAR_003128
33924825
13 - 13
T -> R (in Calluna; dbSNP:rs33992775). VAR_003130
33992775
23 - 23
D -> G (in Kuala Lumpur; dbSNP:rs33970907). VAR_003135
33970907
26 - 26
G -> R (in Xinjiang; unstable; dbSNP:rs35957832). VAR_003138
35957832
37 - 37
P -> R (in Pendergrass; dbSNP:rs41404150). VAR_003141
41404150
38 - 38
W -> G (in Cobb; dbSNP:rs35700518). VAR_003142
35700518
40 - 40
Q -> R (in Bonaire; dbSNP:rs35977759). VAR_003143
35977759
41 - 41
R -> K (in Woodstock; dbSNP:rs33974602). VAR_003145
33974602
44 - 44
D -> N (in Fukuyama; dbSNP:rs41475844). VAR_003147
41475844
54 - 54
A -> D (in Beech island; dbSNP:rs35746147). VAR_003149
35746147
62 - 62
K -> E (in Jamaica; dbSNP:rs34747494). VAR_003153
34747494
73 - 73
G -> R (in Iwata). VAR_003158
74 - 74
D -> H (in Xin-su). VAR_003160
74 - 74
D -> N (in Forest Park; associated with T-76). VAR_003159
76 - 76
I -> T (in Sardinia/Forest Park; associated with N-74; dbSNP:rs1061234). VAR_003161
1061234
80 - 80
D -> N (in Dammam). VAR_003163
81 - 81
D -> N (in Yamaguchi). VAR_003165
81 - 81
D -> Y (in Victoria jubilee). VAR_003164
98 - 98
H -> R (in Dickinson). VAR_003168
122 - 122
E -> K (in Siena/Hull). VAR_003173
129 - 129
A -> T (in Baskent). VAR_003175
135 - 135
V -> M (in Jiangsu). VAR_003177
Database cross-references
UniProt:
P69891
Ensembl:
ENST00000330597
MIM:
142200
neXtProt:
NX_P69891
Antibodypedia:
P69891
(may not find the protein thus also not any antibody)
Local full text data:
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