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Sptan1
Gene Detail
 Symbol
Name
ID
Sptan1
spectrin alpha, non-erythrocytic 1
MGI:98386
Synonyms 2610027H02Rik, alpha-fodrin, Spna2, Spna-2
Feature Type protein coding gene
Genetic Map
Chromosome 2
20.93 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(29)
Sequence Map
Chr2:29965560-30031451 bp, + strand
From VEGA annotation of GRCm38

  65892 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2353  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: spectrin alpha chain
Gene Tree: Sptan1

Human
homologs
Human Homolog SPTAN1, spectrin, alpha, non-erythrocytic 1
NCBI Gene ID 6709
neXtProt AC  NX_Q13813
Human Synonyms  EIEE5, NEAS, SPTA2
Human Chr (Location)  9q34.11; chr9:128552558-128633665 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SPTAN1
Mutations,
alleles, and
phenotypes
All mutations/alleles(76) : Gene trapped(75) Targeted(1)
Incidental mutations (data from APF )
 
Homozygous deletion of the exons encoding the CCC region are normal. Mice homozygous for a gene trap allele exhibit embryonic lethality and abnormal nervous system, heart and craniofacial morphology.
 
Interactions
Sptan1 interacts with 156 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process actin cytoskeleton reorganization, actin filament capping
Component cortical cytoskeleton, cuticular plate, ...
Function actin binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (152)    Tissues (22)    Images (24)
Theiler Stages: 23, 27, 28
Assay TypeResults
RNA in situ 141
Northern blot 11
cDNA source data(429)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(433) cDNA(432) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000016728 (Evidence)
Ensembl Gene ModelENSMUSG00000057738 (Evidence)
Entrez Gene20740 (Evidence)
UniGene204969
DFCITC1598804, TC1604494, TC1627812, TC1640738, TC1739719
DoTSDT.102550448, DT.532124, DT.94164131, DT.94214787, DT.94257828
NIA Mouse Gene IndexU001570
Consensus CDS ProjectCCDS38094.1, CCDS50558.1, CCDS50559.1
International Mouse Knockout Project StatusSptan1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016728 VEGA Gene Model | MGI Sequence Detail 65892 C57BL/6J ±  kb
transcript OTTMUST00000040532 VEGA | MGI Sequence Detail 7892 Not Applicable 
polypeptide OTTMUSP00000018116 VEGA | MGI Sequence Detail 2477 Not Applicable 

For the selected sequences
All sequences(115) RefSeq(22) UniProt(15)
Polymorphisms RFLP(7) : SNPs within 2kb(257 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR014837 EF-hand, Ca insensitive
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR013315 Spectrin alpha chain, SH3 domain
InterPro IPR002017 Spectrin repeat
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000015591 spectrin alpha chain, non-erythrocytic 1
References (Earliest) J:32042 Birkenmeier CS, et al., Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985 Sep;82(17):5671-5
(Latest) J:199579 Papal S, et al., The giant spectrin betaV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Hum Mol Genet. 2013 Sep 15;22(18):3773-88
All references(94)
Other
accession IDs
MGD-MRK-14536, MGD-MRK-14538, MGI:1923606

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory