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    ASPM abnormal spindle microtubule assembly [ Homo sapiens (human) ]

    Gene ID: 259266, updated on 9-Jul-2017
    Official Symbol
    ASPMprovided by HGNC
    Official Full Name
    abnormal spindle microtubule assemblyprovided by HGNC
    Primary source
    HGNC:HGNC:19048
    See related
    Ensembl:ENSG00000066279 MIM:605481; Vega:OTTHUMG00000036277
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASP; MCPH5; Calmbp1
    Summary
    This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
    Orthologs
    Location:
    1q31.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (197084127..197146694, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197053257..197115824, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement factor H related 5 Neighboring gene coagulation factor XIII B chain Neighboring gene septin 14 pseudogene 12 Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene ATPase H+ transporting accessory protein 2 pseudogene Neighboring gene crumbs 1, cell polarity complex component

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    NHGRI GWA Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Clone Names

    • FLJ10517, FLJ10549, FLJ43117, DKFZp686N06184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain neuroblast division IEA
    Inferred from Electronic Annotation
    more info
     
    maintenance of centrosome location IEA
    Inferred from Electronic Annotation
    more info
     
    male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of asymmetric cell division IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    oogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    spindle assembly involved in meiosis IEA
    Inferred from Electronic Annotation
    more info
     
    spindle localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic spindle IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule minus-end IDA
    Inferred from Direct Assay
    more info
    PubMed 
    midbody IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    abnormal spindle-like microcephaly-associated protein
    Names
    asp (abnormal spindle) homolog, microcephaly associated

    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.

    Genomic

    1. NG_015867.1 RefSeqGene

      Range
      5001..67568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206846.1NP_001193775.1  abnormal spindle-like microcephaly-associated protein isoform 2

      See identical proteins and their annotated locations for NP_001193775.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK125107, AK226178, AL353809, BC034607, BX648804
      Consensus CDS
      CCDS55672.1
      UniProtKB/Swiss-Prot
      Q8IZT6
      UniProtKB/TrEMBL
      B3KWI2
      Related
      ENSP00000294732.7, ENST00000294732.11
      Conserved Domains (3) summary
      pfam00307
      Location:11141171
      CH; Calponin homology (CH) domain
      pfam15780
      Location:37134
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      cl00030
      Location:9601056
      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. NM_018136.4NP_060606.3  abnormal spindle-like microcephaly-associated protein isoform 1

      See identical proteins and their annotated locations for NP_060606.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF509326, AK125107, AL353809, BC034607, BX648804
      Consensus CDS
      CCDS1389.1
      UniProtKB/Swiss-Prot
      Q8IZT6
      UniProtKB/TrEMBL
      B3KWI2
      Related
      ENSP00000356379.4, OTTHUMP00000034411, ENST00000367409.8, OTTHUMT00000088256
      Conserved Domains (3) summary
      pfam00307
      Location:11141171
      CH; Calponin homology (CH) domain
      pfam15780
      Location:37134
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
      cl00030
      Location:9601056
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      197084127..197146694 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      198475715..198538290 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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