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Spta1
Gene Detail
Symbol

Name
ID
Spta1
spectrin alpha, erythrocytic 1
MGI:98385
Synonyms
erythroid, ihj, Spna1, Spna-1
Feature Type
protein coding gene
Genetic Map
Chromosome 1
80.97 cM
Detailed Genetic Map ± 1 cM


Mapping data(66)
Sequence Map
Chr1:174172776-174248450 bp, + strand
From VEGA annotation of GRCm38

  75675 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:74460  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

HCOP human homology predictions: SPTA1
Protein SuperFamily: spectrin alpha chain
Gene Tree: Spta1

Human
homologs
SPTA1, spectrin, alpha, erythrocytic 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6708
neXtProt AC: NX_P02549

Human Synonyms: EL2, HPP, HS3, SPH3, SPTA

Human Chr (Location): 1q21; chr1:158610498-158686716 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human SPTA1

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Gene trapped(1) Spontaneous(7) Targeted(1)
Incidental mutations (data from APF , CvDC )
 
Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition.
 
Human Diseases Modeled in Mice Using Spta1 (3)    Mutations Annotated to Human Diseases (4)   
Interactions
Spta1 interacts with 207 markers (Mir1b, Mir7-1, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process actin cytoskeleton organization, actin filament capping, ...
Component cortical cytoskeleton, cuticular plate, ...
Function actin binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (27)    Tissues (3)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 23
RT-PCR 2
RNase protection 2
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(28) Genomic(3) cDNA(22) Primer pair(2) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000029638 (Evidence)
Ensembl Gene Model ENSMUSG00000026532 (Evidence)
Entrez Gene 20739 (Evidence)
UniGene 200611
DFCI TC1585919, TC1686675
DoTS DT.110928598, DT.87072300
Consensus CDS Project CCDS35795.1
International Mouse Phenotyping Consortium Status Spta1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029638 VEGA Gene Model | MGI Sequence Detail 75675 C57BL/6J ±  kb
transcript OTTMUST00000073524 VEGA | MGI Sequence Detail 8406 Not Applicable 
polypeptide OTTMUSP00000038061 VEGA | MGI Sequence Detail 2415 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(3) UniProt(3)
Polymorphisms
RFLP(13) : SNPs within 2kb(1407 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:000015590 spectrin alpha chain, erythrocytic 1
References
(Earliest) J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50:35-9
(Latest) J:216288 Jones C, et al., Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear. Dev Biol. 2014 Nov 1;395(1):62-72
All references(116)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-10606, MGD-MRK-14518, MGD-MRK-14535, MGD-MRK-14537, MGI:2138146, MGI:2138256, MGI:3615012

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory