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

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 microcephaly; primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 5; and visual epilepsy. Orthologous to human ASPM (assembly factor for spindle microtubules). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E11.5 (RPKM 6.2), liver E14 (RPKM 4.0) and 12 other tissues See more
Orthologs: human all
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Genomic context

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Aspm causes increased apoptosis of developing neural cells during mouse cerebral corticogenesis.
Title: Loss of Aspm causes increased apoptosis of developing neural cells during mouse cerebral corticogenesis.
ASPM promotes migration and invasion of anaplastic thyroid carcinoma by stabilizing KIF11.
Title: ASPM promotes migration and invasion of anaplastic thyroid carcinoma by stabilizing KIF11.
The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly.
Title: The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly.
Loss of abnormal spindle-like, microcephaly-associated (Aspm) disrupts female folliculogenesis in mice during maturation and aging.
Title: Loss of abnormal spindle-like, microcephaly-associated (Aspm) disrupts female folliculogenesis in mice during maturation and aging.
A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons.
Title: A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons.
in this study we have provided evidence that ASPM controls spindle orientation by regulating the dynamics of astral MT and that CITK is a critical downstream partner of ASPM for this activity.
Title: ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules.
Aspm and Wdr62 interact genetically to control brain size, with mice lacking Wdr62, Aspm, or both showing gene dose-related centriole duplication defects that parallel the severity of the microcephaly and increased ectopic basal progenitors, suggesting premature delamination from the ventricular zone.
Title: Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.
Interaction between ASPM and the Cdk2/Cyclin E complex regulated the Cyclin activity by modulating its ubiquitination and localization into the nucleus.
Title: ASPM regulates symmetric stem cell division by tuning Cyclin E ubiquitination.
Aspm, a gene that is mutated in familial microcephaly, regulates postnatal neurogenesis in the cerebellum and supports the growth of medulloblastoma, the most common malignant pediatric brain tumor.
Title: Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice.
Aspm is essential to the proliferation and differentiation of neural stem/progenitor cells. The Aspm gene loss model provided a novel pathogenetic insight into acquired microcephaly, which can be caused by in utero exposure teratogens.
Title: Disruption of Aspm causes microcephaly with abnormal neuronal differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Gene trapped (2)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aspm (e-PCR), detects polymorphism
- UniSTS:545898

RH136166 (e-PCR)
- UniSTS:210161

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of asymmetric cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain neuroblast division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of centrosome location	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of asymmetric cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuroblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuronal stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of neuroblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of meiotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spindle localization	IEA Inferred from Electronic Annotation more info
involved_in spindle localization	ISO Inferred from Sequence Orthology more info
involved_in spindle organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in meiotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule minus-end	IEA Inferred from Electronic Annotation more info
located_in microtubule minus-end	ISO Inferred from Sequence Orthology more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle pole	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.

mRNA and Protein(s)

NM_009791.4 → NP_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:1082 → 1135

CH; Calponin homology (CH) domain

pfam15780
Location:29 → 126

ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

cl00030
Location:928 → 1024

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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

139381450..139421826

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

pfam00307
Location:1082 → 1135

CH; Calponin homology (CH) domain

pfam15780
Location:29 → 126

ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

cl00030
Location:928 → 1024

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 ...
XM_006529108.5 → XP_006529171.1 abnormal spindle-like microcephaly-associated protein homolog isoform X1

Conserved Domains (1) summary

COG5022
Location:82 → 230

COG5022; Myosin heavy chain [General function prediction only]