SPTA1_HUMAN
Source:
hRBCD
; ID:
IPI00220741
PM19886704
PM23856902
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:
SPTA1
, SPTA
Protein names and data:
SPTA1_HUMAN
, Spectrin alpha chain, erythrocytic 1
, Erythroid alpha-spectrin
Lenght: 2419 a.a.
Mass: 280014 Da
fasta formatted sequence
Function:
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.
Disease:
( OMIM:
130600
182860
266140
270970
)
Elliptocytosis 2 (EL2) [MIM:130600]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. Note=The disease is caused by mutations affecting the gene represented in this entry. Hereditary pyropoikilocytosis (HPP) [MIM:266140]: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. Note=The disease is caused by mutations affecting the gene represented in this entry. Spherocytosis 3 (SPH3) [MIM:270970]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
Genetic variants
24 - 24
I -> S (in EL2; Lograno). VAR_001324
28 - 28
R -> C (in EL2). VAR_001328
28 - 28
R -> H (in EL2; Corbeil; dbSNP:rs28934004). VAR_001325
28934004
28 - 28
R -> L (in EL2). VAR_001326
28 - 28
R -> S (in EL2; dbSNP:rs28934005). VAR_001327
28934005
31 - 31
V -> A (in EL2; Marseille). VAR_001329
34 - 34
R -> W (in EL2; Genova). VAR_001330
41 - 41
R -> W (in EL2; Tunis). VAR_001331
45 - 45
R -> S (in EL2; Clichy). VAR_001332
45 - 45
R -> T (in EL2; Anastasia). VAR_001333
46 - 46
G -> V (in EL2; Culoz). VAR_001334
48 - 48
K -> R (in HPP). VAR_001335
49 - 49
L -> F (in EL2; Lyon). VAR_001336
109 - 109
S -> F (in dbSNP:rs3737521). VAR_038506
3737521
151 - 151
G -> D (in EL2; Ponte de Sor). VAR_001337
152 - 152
D -> N (in dbSNP:rs16840544). VAR_038507
16840544
154 - 154
L -> LL (in EL2). VAR_001338
207 - 207
L -> P (in EL2 and HPP; Saint-Louis; dbSNP:rs121918643). VAR_001339
121918643
260 - 260
L -> P (in EL2; Nigerian). VAR_001340
261 - 261
S -> P (in EL2). VAR_001341
469 - 469
H -> P (in EL2; Barcelona). VAR_001342
469 - 469
Missing (in EL2; Alexandria). VAR_001343
471 - 471
Q -> P (in EL2). VAR_001344
701 - 701
R -> H (in dbSNP:rs12090314). VAR_001345
12090314
766 - 766
A -> T (in dbSNP:rs11265047). VAR_038508
11265047
791 - 791
D -> E (in EL2; Jendouba; dbSNP:rs7418956). VAR_001346
7418956
809 - 809
I -> V (in dbSNP:rs7547313). VAR_001347
7547313
853 - 853
T -> R (in dbSNP:rs35121052). VAR_001348
35121052
957 - 957
A -> V (in dbSNP:rs34706737). VAR_038509
34706737
970 - 970
A -> D (in dbSNP:rs35948326). VAR_001349
35948326
1163 - 1163
S -> A (in dbSNP:rs2482965). VAR_038510
2482965
1330 - 1330
R -> I (in dbSNP:rs34214405). VAR_038511
34214405
1568 - 1568
C -> R (in dbSNP:rs863931). VAR_038512
863931
1693 - 1693
K -> Q (in dbSNP:rs857725). VAR_059199
857725
1836 - 1836
N -> S (in dbSNP:rs16830483). VAR_059200
16830483
1858 - 1858
L -> V (in dbSNP:rs3737515). VAR_001350
3737515
2025 - 2025
A -> G (in Cagliari). VAR_001351
2265 - 2265
I -> T (in dbSNP:rs952094). VAR_059201
952094
Database cross-references
UniProt:
P02549
Ensembl:
ENST00000368147
Ensembl:
ENST00000368148
MIM:
130600
MIM:
182860
MIM:
266140
MIM:
270970
neXtProt:
NX_P02549
Antibodypedia:
P02549
(may not find the protein thus also not any antibody)
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