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

Gene ID: 259266, updated on 26-May-2016
Official Symbol
ASPMprovided by HGNC
Official Full Name
abnormal spindle microtubule assemblyprovided by HGNC
Primary source
HGNC:HGNC:19048
See related
Ensembl:ENSG00000066279 HPRD:08384; 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
Exon count:
28
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 zinc finger and BTB domain containing 41 Neighboring gene ATPase H+ transporting accessory protein 2 pseudogene Neighboring gene crumbs 1, cell polarity complex component

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
 
mitotic nuclear division 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, ENST00000294732
    Conserved Domains (2) summary
    pfam11971
    Location:11191178
    CAMSAP_CH; CAMSAP CH domain
    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, OTTHUMP00000034411, ENST00000367409, OTTHUMT00000088256
    Conserved Domains (2) summary
    pfam11971
    Location:11191178
    CAMSAP_CH; CAMSAP CH domain
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 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)