U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    ASPM assembly factor for spindle microtubules [ Homo sapiens (human) ]

    Gene ID: 259266, updated on 27-Nov-2024

    Summary

    Official Symbol
    ASPMprovided by HGNC
    Official Full Name
    assembly factor for spindle microtubulesprovided by HGNC
    Primary source
    HGNC:HGNC:19048
    See related
    Ensembl:ENSG00000066279 MIM:605481; AllianceGenome:HGNC:19048
    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]
    Expression
    Broad expression in bone marrow (RPKM 4.7), lymph node (RPKM 3.5) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASPM in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197084127..197146669, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196345951..196408493, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197053257..197115799, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196960781-196961380 Neighboring gene MPRA-validated peak639 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:196986547-196987746 Neighboring gene complement factor H related 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:197037498-197038697 Neighboring gene MPRA-validated peak640 silencer Neighboring gene coagulation factor XIII B chain Neighboring gene septin 14 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1659 Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:197170170-197170755 Neighboring gene ATPase H+ transporting accessory protein 2 pseudogene Neighboring gene crumbs cell polarity complex component 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Microcephaly 5, primary, autosomal recessive
    MedGen: C1837501 OMIM: 608716 GeneReviews: ASPM Primary Microcephaly
    Compare labs

    EBI GWAS Catalog

    Description
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    EBI GWAS Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ10517, FLJ10549, FLJ43117, DKFZp686N06184

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    abnormal spindle-like microcephaly-associated protein
    Names
    abnormal spindle microtubule assembly
    asp (abnormal spindle) homolog, microcephaly associated

    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.

    Genomic

    1. NG_015867.1 RefSeqGene

      Range
      5026..67568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206846.2NP_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_018136.5NP_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
      Q4G1H1, Q5VYL3, Q86UX4, Q8IUL2, Q8IZJ7, Q8IZJ8, Q8IZJ9, Q8IZT6, Q8N4D1, Q9NVS1, Q9NVT6
      UniProtKB/TrEMBL
      A0A7P0Z4R7
      Related
      ENSP00000356379.4, ENST00000367409.9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      197084127..197146669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      196345951..196408493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)