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Aspm Gene Detail
Summary
  • Symbol
    Aspm
  • Name
    asp (abnormal spindle)-like, microcephaly associated (Drosophila)
  • Synonyms
    Aspm, Calmbp1, D330028K02Rik, MCPH5, Sha1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1334448
    NCBI Gene: 12316
  • Gene Overview
    MyGene.info: ASPM
Location & Maps
more
  • Sequence Map
    Chr1:139454772-139494091 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39320 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ASPM, abnormal spindle microtubule assembly
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ASPM, abnormal spindle microtubule assembly
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ASP, Calmbp1, MCPH5
  • Links
    NCBI Gene ID: 259266
    neXtProt AC: NX_Q8IZT6

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

  • HomoloGene
    Vertebrate Homology Class 7650
    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
Human Diseases
more
  • Diseases
    1 with Aspm mouse models; 1 with human ASPM associations

Human Disease Mouse Models
       Microcephaly 5, Primary, Autosomal Recessive; MCPH5   OMIM: 608716 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 5 alleles in 4 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    2
  • Gene trapped
    8
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    3 involving Aspm
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    450 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004381 abnormal spindle-like microcephaly-associated protein
  • InterPro Domains
    IPR029955 Abnormal spindle-like microcephaly-associated protein
    IPR031549 Abnormal spindle-like microcephaly-associated protein, ASH domain
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR001715 Calponin homology domain
    IPR000048 IQ motif, EF-hand binding site
    IPR008962 PapD-like
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
less
  • All nucleic 18
    cDNA 17
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:2444618
References
more
  • Summaries
    All 45
    Developmental Gene Expression 12
    Diseases 2
    Gene Ontology 9
    Phenotypes 15
  • 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:228026 Capecchi MR, et al., ASPM regulates symmetric stem cell division by tuning Cyclin E ubiquitination. Nat Commun. 2015;6:8763

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
04/19/2016
MGI 6.03
The Jackson Laboratory