SPTB1_HUMAN
Source:
hRBCD
; ID:
IPI00004501
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:
SPTB
, SPTB1
Protein names and data:
SPTB1_HUMAN
, Spectrin beta chain, erythrocytic
, Beta-I spectrin
Lenght: 2137 a.a.
Mass: 246468 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
182870
)
Elliptocytosis 3 (EL3) [MIM:182870]: 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. Spherocytosis 2 (SPH2) [MIM:182870]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
Genetic variants
202 - 202
W -> R (in HS; Kissimmee). VAR_001352
439 - 439
S -> N (in dbSNP:rs229587). VAR_001353
229587
525 - 525
E -> K (in dbSNP:rs55752508). VAR_061084
55752508
613 - 613
S -> I (in dbSNP:rs3742601). VAR_038514
3742601
1151 - 1151
N -> D (in dbSNP:rs77806). VAR_001354
77806
1374 - 1374
H -> R (in dbSNP:rs10132778). VAR_001355
10132778
1403 - 1403
R -> Q (in dbSNP:rs17180350). VAR_001356
17180350
1408 - 1408
G -> R (in dbSNP:rs17245552). VAR_038515
17245552
2018 - 2018
A -> G (in EL3; Cagliary). VAR_001357
2019 - 2019
S -> P (in EL3; Providence). VAR_001358
2023 - 2023
A -> V (in EL3; Paris). VAR_001359
2024 - 2024
W -> R (in EL3; Linguere). VAR_001360
2025 - 2025
L -> R (in EL3; Buffalo). VAR_001361
2053 - 2053
A -> P (in EL3; Kayes). VAR_001362
Database cross-references
UniProt:
P11277
Ensembl:
ENST00000389720
Ensembl:
ENST00000389721
Ensembl:
ENST00000389722
Ensembl:
ENST00000542895
Ensembl:
ENST00000556626
MIM:
130600
MIM:
182870
neXtProt:
NX_P11277
Antibodypedia:
P11277
(may not find the protein thus also not any antibody)
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