Homo sapiens Gene: SPTAN1
Summary
InnateDB Gene IDBG-88280.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTAN1
Gene Name spectrin, alpha, non-erythrocytic 1
Synonyms EIEE5; NEAS; SPTA2;
Species Homo sapiens
Ensembl Gene ENSG00000197694
Encoded Proteins
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:128552558-128633665
Strand Forward strand
Band q34.11
Transcripts
ENST00000372739 ENSP00000361824
ENST00000372731 ENSP00000361816
ENST00000358161 ENSP00000350882
ENST00000497216
ENST00000472211
ENST00000475367
ENST00000461855
ENST00000476825
ENST00000491712
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
GO:0030507 spectrin binding
GO:0046982 protein heterodimerization activity
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:0005916 fascia adherens
GO:0008091 spectrin
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0016328 lateral plasma membrane
GO:0030018 Z disc
GO:0030863 cortical cytoskeleton
GO:0032437 cuticular plate
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Apoptotic execution phase pathway
Developmental Biology pathway
Interaction between L1 and Ankyrins pathway
Cell-Cell communication pathway
NCAM signaling for neurite out-growth pathway
Nephrin interactions pathway
Axon guidance pathway
Apoptosis pathway
Apoptotic cleavage of cellular proteins pathway
Caspase-mediated cleavage of cytoskeletal proteins pathway
L1CAM interactions pathway
KEGG
Tight junction pathway
INOH
PID BIOCARTA
Ucalpain and friends in cell spread [Biocarta view]
Induction of apoptosis through dr3 and dr4/5 death receptors [Biocarta view]
Hiv-1 nef: negative effector of fas and tnf [Biocarta view]
PID NCI
Caspase Cascade in Apoptosis
Cross-References
SwissProt Q13813
TrEMBL
UniProt Splice Variant
Entrez Gene 6709
UniGene Hs.372331
RefSeq NM_001130438 NM_001195532 NM_003127 XM_006717248 XM_006717249 XM_006717250 XM_006717252 XM_006717253
HUGO HGNC:11273
OMIM 182810
CCDS CCDS48036 CCDS6905 CCDS75914
HPRD
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
RNA Seq Atlas 6709