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

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: mouse all
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Genomic context

Location:: 1q31.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (197084127..197146669, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (196345951..196408493, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (197053257..197115799, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated beta-catenin signaling in cholangiocarcinoma.
Title: RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated β-catenin signaling in cholangiocarcinoma.
ASPM stabilizes the NOTCH intracellular domain 1 and promotes oncogenesis by blocking FBXW7 binding in hepatocellular carcinoma cells.
Title: ASPM stabilizes the NOTCH intracellular domain 1 and promotes oncogenesis by blocking FBXW7 binding in hepatocellular carcinoma cells.
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.
ASPM overexpression enhances cellular proliferation and migration and predicts worse prognosis for papillary renal cell carcinoma.
Title: ASPM overexpression enhances cellular proliferation and migration and predicts worse prognosis for papillary renal cell carcinoma.
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.
ASPM Activates Hedgehog and Wnt Signaling to Promote Small Cell Lung Cancer Stemness and Progression.
Title: ASPM Activates Hedgehog and Wnt Signaling to Promote Small Cell Lung Cancer Stemness and Progression.
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Title: Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
ASPM promotes ATR-CHK1 activation and stabilizes stalled replication forks in response to replication stress.
Title: ASPM promotes ATR-CHK1 activation and stabilizes stalled replication forks in response to replication stress.
Novel and recurrent ASPM mutations of founder effect in Chinese population.
Title: Novel and recurrent ASPM mutations of founder effect in Chinese population.
Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.
Title: Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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

NG_015867.1 RefSeqGene

Range

5026..67568

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206846.2 → NP_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:1114 → 1171

CH; Calponin homology (CH) domain

pfam15780
Location:37 → 134

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

cl00030
Location:960 → 1056

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 ...
NM_018136.5 → NP_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:1114 → 1171

CH; Calponin homology (CH) domain

pfam15780
Location:37 → 134

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

cl00030
Location:960 → 1056

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 ...