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Aspm
Gene Detail
 Symbol
Name
ID
Aspm
asp (abnormal spindle)-like, microcephaly associated (Drosophila)
MGI:1334448
Synonyms Aspm, Calmbp1, D330028K02Rik, MCPH5, Sha1
Feature Type protein coding gene
Genetic Map
Chromosome 1
61.45 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:139454773-139494090 bp, + strand
From VEGA annotation of GRCm38

  39318 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7650  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Aspm

Human
homologs
Human Homolog ASPM, asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
NCBI Gene ID 259266
neXtProt AC  NX_Q8IZT6
Human Synonyms  ASP, Calmbp1, MCPH5
Human Chr (Location)  1q31; chr1:197084127-197146694 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ASPM
Alleles
and
phenotypes
All alleles(10) : Targeted(2) Gene trapped(8)
 
Mice homozygous for protein-truncating gene trap mutations of this gene exhibit decreased body weight, microcephaly, a severe reduction in brain, testis and ovary weight, oligozoospermia and asthenospermia, and reduced fertility in both sexes.
 
Human Diseases Modeled Using Mouse Aspm (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process brain development, cell cycle, ...
Component cytoplasm, cytoskeleton, ...
Function calmodulin binding
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (84)    Tissues (66)    Images (23)
Theiler Stages: 10, 18, 19, 22, 23, 24, 25, 28
Assay TypeResults
RNA in situ 80
Northern blot 4
cDNA source data(16)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(18) cDNA(17) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000019630 (Evidence)
Ensembl Gene ModelENSMUSG00000033952 (Evidence)
Entrez Gene12316 (Evidence)
DFCITC1578411, TC1623072, TC1705068
DoTSDT.110935751, DT.87048337, DT.91351879, DT.94239632, DT.97332064
NIA Mouse Gene IndexU042215
Consensus CDS ProjectCCDS35729.1
International Mouse Knockout Project StatusAspm
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019630 VEGA Gene Model | MGI Sequence Detail 39318 C57BL/6J ±  kb
transcript OTTMUST00000046913 VEGA | MGI Sequence Detail 9866 Not Applicable 
polypeptide OTTMUSP00000021198 VEGA | MGI Sequence Detail 3122 Not Applicable 

For the selected sequences
All sequences(57) RefSeq(8) UniProt(3)
Polymorphisms SNPs within 2kb(446 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016024 Armadillo-type fold
InterPro IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain
InterPro IPR001715 Calponin homology domain
InterPro IPR000048 IQ motif, EF-hand binding site
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000004381 abnormal spindle-like microcephaly-associated protein
References (Earliest) J:51919 Craig R, et al., The novel murine calmodulin-binding protein Sha1 disrupts mitotic spindle and replication checkpoint functions in fission yeast. J Cell Sci. 1998 Dec 18;111(Pt 24):3609-19
(Latest) J:197015 Thompson PJ, et al., CECR2 is involved in spermatogenesis and forms a complex with SNF2H in the testis. J Mol Biol. 2012 Feb 3;415(5):793-806
All references(44)
Other
accession IDs
MGI:2444618

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory