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 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; chr9:131314837-131395944 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SPTAN1

Alleles and phenotypes

All alleles(76) : Targeted(1) Gene trapped(75)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (24 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 (21)    Images (24)
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	141
Northern blot	11

cDNA source data(430)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(434) cDNA(433) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000016728 (Evidence)
Ensembl Gene Model	ENSMUSG00000057738 (Evidence)
Entrez Gene	20740 (Evidence)
UniGene	204969
DFCI	TC1598804, TC1604494, TC1627812, TC1640738, TC1739719
DoTS	DT.102550448, DT.532124, DT.94164131, DT.94214787, DT.94257828
NIA Mouse Gene Index	U001570
Consensus CDS Project	CCDS38094.1, CCDS50558.1, CCDS50559.1
International Mouse Knockout Project Status	Sptan1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016728	VEGA Gene Model | MGI Sequence Detail	65892	C57BL/6J
transcript	OTTMUST00000040532	VEGA | MGI Sequence Detail	7892	Not Applicable
polypeptide	OTTMUSP00000018116	VEGA | MGI Sequence Detail	2477	Not Applicable

All sequences(99) RefSeq(6) UniProt(15)

Polymorphisms

RFLP(7) : SNPs(243 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002048	Calcium-binding EF-hand
InterPro	IPR018247	EF-Hand 1, calcium-binding site
InterPro	IPR018249	EF-HAND 2
InterPro	IPR014837	EF-hand, Ca insensitive
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, brain

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:186168 Galiano MR, et al., A distal axonal cytoskeleton forms an intra-axonal boundary that controls axon initial segment assembly. Cell. 2012 May 25;149(5):1125-39
All references(93)

Other accession IDs

MGD-MRK-14536, MGD-MRK-14538, MGI:1923606