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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

Protein SuperFamily: spectrin alpha chain
Gene Tree: Spta1

Human
homologs
Human Homolog SPTA1, spectrin, alpha, erythrocytic 1
NCBI Gene ID 6708
neXtProt AC  NX_P02549
Human Synonyms  EL2, HPP, HS3, SPH3, SPTA
Human Chr (Location)  1q21; chr1:158610706-158686716 (-)  GRCh38
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 )
 
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 Using Mouse Spta1 (3)    Alleles Annotated to Human Diseases(4)   
Interactions
Spta1 interacts with 208 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: (5 records)
Data Summary: Results (27)    Tissues (3)    Images (23)
Theiler Stages: 21, 23
Assay TypeResults
RNA in situ 23
RT-PCR 2
RNase protection 2
cDNA source data(18)
External Resources: 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 ModelOTTMUSG00000029638 (Evidence)
Ensembl Gene ModelENSMUSG00000026532 (Evidence)
Entrez Gene20739 (Evidence)
UniGene200611
DFCITC1585919, TC1686675
DoTSDT.110928598, DT.87072300
Consensus CDS ProjectCCDS35795.1
International Mouse Knockout Project StatusSpta1
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:192837 Hanson MS, et al., A novel hemoglobin-binding peptide reduces cell-free hemoglobin in murine hemolytic anemia. Am J Physiol Heart Circ Physiol. 2013 Jan 15;304(2):H328-36
All references(119)
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
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory