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

    Gene ID: 12316, updated on 4-Jan-2025

    Summary

    Official Symbol
    Aspmprovided by MGI
    Official Full Name
    abnormal spindle microtubule assemblyprovided by MGI
    Primary source
    MGI:MGI:1334448
    See related
    Ensembl:ENSMUSG00000033952 AllianceGenome:MGI:1334448
    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
    Summary
    Enables calmodulin binding activity. Involved in regulation of meiotic cell cycle. Acts upstream of or within several processes, including maintenance of centrosome location; nervous system development; and neuronal stem cell population maintenance. Located in cytoplasm; microtubule cytoskeleton; and midbody. Is expressed in several structures, including gonad; gut; hemolymphoid system gland; nervous system; and perichondrium. Used to study microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly and primary autosomal recessive microcephaly 5. Orthologous to human ASPM (assembly factor for spindle microtubules). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in CNS E11.5 (RPKM 6.2), liver E14 (RPKM 4.0) and 12 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Aspm in Genome Data Viewer
    Location:
    1 F; 1 61.45 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (139381450..139421826)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (139454188..139494088)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_02477 Neighboring gene predicted gene, 34816 Neighboring gene STARR-positive B cell enhancer ABC_E5812 Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene STARR-seq mESC enhancer starr_02479 Neighboring gene STARR-seq mESC enhancer starr_02480 Neighboring gene STARR-seq mESC enhancer starr_02481 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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    General gene information

    Clone Names

    • FLJ10518

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of asymmetric cell division PubMed 
    acts_upstream_of_or_within brain development PubMed 
    acts_upstream_of_or_within cerebral cortex development PubMed 
    acts_upstream_of_or_within developmental growth PubMed 
    acts_upstream_of_or_within forebrain neuroblast division PubMed 
    acts_upstream_of_or_within maintenance of centrosome location PubMed 
    acts_upstream_of_or_within male gonad development PubMed 
    acts_upstream_of_or_within meiotic spindle assembly PubMed 
    acts_upstream_of_or_within negative regulation of asymmetric cell division PubMed 
    acts_upstream_of_or_within negative regulation of neuron differentiation PubMed 
    acts_upstream_of neuroblast proliferation PubMed 
    acts_upstream_of neuroblast proliferation PubMed 
    acts_upstream_of_or_within neuron migration PubMed 
    acts_upstream_of_or_within neuron migration PubMed 
    acts_upstream_of_or_within neuronal stem cell population maintenance PubMed 
    acts_upstream_of_or_within oogenesis PubMed 
    acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway PubMed 
    acts_upstream_of_or_within positive regulation of neuroblast proliferation PubMed 
    acts_upstream_of_or_within positive regulation of neuroblast proliferation PubMed 
    involved_in regulation of meiotic cell cycle PubMed 
    acts_upstream_of_or_within spermatogenesis PubMed 
    involved_in spindle localization  
    involved_in spindle localization  
    involved_in spindle organization  
    Component Evidence Code Pubs
    located_in apical plasma membrane  
    located_in centrosome  
    located_in cytoplasm PubMed 
    located_in meiotic spindle PubMed 
    located_in microtubule PubMed 
    located_in microtubule minus-end  
    located_in microtubule minus-end  
    located_in midbody PubMed 
    located_in midbody  
    located_in mitotic spindle pole PubMed 
    located_in mitotic spindle pole  
    located_in nucleus  
    located_in nucleus  
    located_in spindle pole 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)

    NEW Try the new Transcript table

    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
      A0A0G2JES1, B1ARM7, O88482, Q4G1G9, Q8BJI8, Q8BKT4, Q8CJ27
      Related
      ENSMUSP00000059159.9, ENSMUST00000053364.12
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      139381450..139421826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312957.3XP_017168446.1  abnormal spindle-like microcephaly-associated protein homolog isoform X2

      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 ...
    2. XM_006529108.5XP_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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