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

Gene ID: 259266, updated on 4-Jan-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

General gene information

Clone Names

  • FLJ10517, FLJ10549, FLJ43117, DKFZp686N06184

Gene Ontology Provided by GOA

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

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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)
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