Homo sapiens Protein: SPTAN1
Summary
InnateDB Protein IDBP-88284.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTAN1
Protein Name spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
Synonyms EIEE5; NEAS; SPTA2;
Species Homo sapiens
Ensembl Protein ENSP00000361816
InnateDB Gene IDBG-88280 (SPTAN1)
Protein Structure
UniProt Annotation
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.
Subcellular Localization 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. {ECO:0000250}.
Disease Associations 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. {ECO:0000269PubMed:20493457}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 147 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 147 [view]
Protein-Protein 146 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
Biological Process
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0007411 axon guidance
GO:0051693 actin filament capping
Cellular Component
GO:0005829 cytosol
GO:0008091 spectrin
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001452 SH3 domain
IPR002017 Spectrin repeat
IPR002048 EF-hand domain
IPR011511 Variant SH3 domain
IPR013315 Spectrin alpha chain, SH3 domain
IPR014837 EF-hand, Ca insensitive
IPR018159 Spectrin/alpha-actinin
PFAM PF00018
PF14604
PF00435
PF00036
PF13202
PF13405
PF07653
PF08726
PRINTS PR00452
PR01887
PIRSF
SMART SM00326
SM00054
SM00150
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q13813
PhosphoSite PhosphoSite-Q13813
TrEMBL
UniProt Splice Variant
Entrez Gene 6709
UniGene Hs.372331
RefSeq NP_003118
HUGO HGNC:11273
OMIM 182810
CCDS CCDS6905
HPRD 01684
IMGT
EMBL AB191262 AB209860 AF148808 AL356481 BC053521 J05243 M18627 M24773 U26396 U83867 X86901
GenPept AAA51702 AAA51790 AAA52468 AAB41498 AAB60364 AAF26672 AAH53521 BAD52438 BAD93097 CAA60503 CAH71404 CAH71405