RBCC Red Blood Cell Collection

SPTN1_HUMAN

Source: hRBCD ; ID: IPI00413728
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: SPTAN1 , NEAS, SPTA2
Protein names and data: SPTN1_HUMAN , Spectrin alpha chain, non-erythrocytic 1 , Alpha-II spectrin; Fodrin alpha chain; Spectrin, non-erythroid alpha subunit Lenght: 2472 a.a.
Mass: 284539 Da
fasta formatted sequence
Function: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
Disease: ( OMIM: 182810 613477 ) Epileptic encephalopathy, early infantile, 5 (EIEE5) [MIM:613477]: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells (By similarity).

Genetic variants

385 - 385 N -> S (in dbSNP:rs2227863). VAR_038513 2227863
904 - 904 S -> C (in a breast cancer sample; somatic mutation). VAR_035454
1017 - 1017 P -> S (in a breast cancer sample; somatic mutation). VAR_035455
1300 - 1300 I -> T (in dbSNP:rs1048236). VAR_012227 1048236
1794 - 1794 R -> W (in a breast cancer sample; somatic mutation). VAR_035456
1918 - 1918 D -> N (in a breast cancer sample; somatic mutation). VAR_035457
2202 - 2202 Missing (in EIEE5; could form a heterodimer with SPTBN1 but the heterodimer is thermally unstable; suggests a dominant negative effect). VAR_063886
2303 - 2303 R -> RM (in EIEE5; could form a heterodimer with SPTBN1 but the heterodimer is thermally unstable; suggests a dominant negative effect). VAR_063887

Database cross-references

UniProt: Q13813
Ensembl: ENST00000372731
Ensembl: ENST00000372739
MIM: 182810
MIM: 613477
neXtProt: NX_Q13813
Antibodypedia: Q13813 (may not find the protein thus also not any antibody)
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