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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
Chr1:139454772-139494091 bp, + strand
From VEGA annotation of GRCm38

  39320 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ASPM
Gene Tree: Aspm

Human
homologs
ASPM, abnormal spindle microtubule assembly
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 259266
neXtProt AC: NX_Q8IZT6

Human Synonyms: ASP, Calmbp1, MCPH5

Human Chr (Location): 1q31; chr1:197084127-197146694 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ASPM

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(8) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Aspm (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Aspm interacts with 210 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process brain development, cell cycle, ...
Component cytoplasm, cytoskeleton, ...
Function calmodulin binding
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (84)    Tissues (67)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 80
Northern blot 4
cDNA source data(16)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase aspm ; ZFIN aspm    NEW 
Molecular
reagents
All nucleic(18) cDNA(17) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000019630 (Evidence)
Ensembl Gene Model ENSMUSG00000033952 (Evidence)
Entrez Gene 12316 (Evidence)
DFCI TC1578411, TC1623072, TC1705068
DoTS DT.110935751, DT.87048337, DT.91351879, DT.94239632, DT.97332064
NIA Mouse Gene Index U042215
Consensus CDS Project CCDS35729.1
International Mouse Phenotyping Consortium Status Aspm
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019630 VEGA Gene Model | MGI Sequence Detail 39320 C57BL/6J ±  kb
transcript OTTMUST00000046913 VEGA | MGI Sequence Detail 9867 Not Applicable 
polypeptide OTTMUSP00000021198 VEGA | MGI Sequence Detail 3122 Not Applicable 

For the selected sequences
All sequences(50) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(446 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR029955 Abnormal spindle-like microcephaly-associated protein
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:205524 Fujimori A, et al., Disruption of Aspm causes microcephaly with abnormal neuronal differentiation. Brain Dev. 2013 Nov 9;
All references(46)
Disease annotation references (1)
Other
accession IDs
MGI:2444618

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
08/25/2015
MGI 6.0
The Jackson Laboratory