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    Aspm abnormal spindle microtubule assembly [ Mus musculus (house mouse) ]

    Gene ID: 12316, updated on 31-Jan-2019

    Summary

    Official Symbol
    Aspmprovided by MGI
    Official Full Name
    abnormal spindle microtubule assemblyprovided by MGI
    Primary source
    MGI:MGI:1334448
    See related
    Ensembl:ENSMUSG00000033952
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sha1; MCPH5; Calmbp1; D330028K02Rik
    Expression
    Biased expression in CNS E11.5 (RPKM 6.2), liver E14 (RPKM 4.0) and 12 other tissues See more
    Orthologs

    Genomic context

    See Aspm in Genome Data Viewer
    Location:
    1; 1 E4-F
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (139454033..139494088)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (141351350..141390665)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 34816 Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene predicted gene, 41962 Neighboring gene coagulation factor XIII, beta subunit Neighboring gene complement factor H-related 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10518

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    forebrain neuroblast division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maintenance of centrosome location IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of asymmetric cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuronal stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of neuroblast proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of neuroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of meiotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spindle assembly involved in meiosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spindle localization ISO
    Inferred from Sequence Orthology
    more info
     
    spindle organization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule minus-end ISO
    Inferred from Sequence Orthology
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    midbody ISO
    Inferred from Sequence Orthology
    more info
     
    mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic spindle pole ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    abnormal spindle-like microcephaly-associated protein homolog
    Names
    asp (abnormal spindle)-like, microcephaly associated
    calmodulin-binding protein 1
    calmodulin-binding protein Sha1
    spindle and hydroxyurea checkpoint abnormal protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009791.4NP_033921.3  abnormal spindle-like microcephaly-associated protein homolog

      See identical proteins and their annotated locations for NP_033921.3

      Status: VALIDATED

      Source sequence(s)
      AC158946, AK052326, AY971958, BI989704, CN664812, CV556405, DV662096
      Consensus CDS
      CCDS35729.1
      UniProtKB/Swiss-Prot
      Q8CJ27
      Related
      ENSMUSP00000059159.8, ENSMUST00000053364.11
      Conserved Domains (3) summary
      pfam00307
      Location:10821135
      CH; Calponin homology (CH) domain
      pfam15780
      Location:29126
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      cl00030
      Location:9281024
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      139454033..139494088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312957.1XP_017168446.1  abnormal spindle-like microcephaly-associated protein homolog isoform X2

    2. XM_006529108.3XP_006529171.1  abnormal spindle-like microcephaly-associated protein homolog isoform X1

      Conserved Domains (1) summary
      COG5022
      Location:82230
      COG5022; Myosin heavy chain [General function prediction only]
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