ASPM — assembly factor for spindle microtubules

33 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

156PubMed Papers

#2,900 · top 15% of 19K genes

21Diseases

top 11%

0Drugs

353Pathogenic Variants

top 3%

OMIM Disease GeneHub GeneVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

microtubule minus-endnucleusspindle organizationmitotic spindle poleautosomal recessive primary microcephalygenetic disordermicrocephaly 1, primary, autosomal recessivemacular degeneration

AI Summary

ASPM (assembly factor for spindle microtubules) is a mitotic protein essential for proper spindle organization and cell cycle progression. The protein functions primarily during mitosis by regulating microtubule dynamics at spindle poles, including spindle orientation, astral microtubule density, and poleward microtubule flux through association with the katanin complex 1. ASPM enhances microtubule lattice severing activity by recruiting the katanin complex to microtubules and can block microtubule minus-end growth 1. Beyond its mitotic roles, ASPM promotes DNA repair by facilitating homologous recombination and plays a critical role in replication stress response by promoting ATR-CHK1 activation and stabilizing stalled replication forks 2. The protein is enriched at stalled replication forks in a RAD17-dependent manner and promotes RAD9 and TopBP1 loading onto chr1 2. ASPM expression is frequently upregulated in various cancers including lung adenocarcinoma, pancreatic adenosquamous carcinoma, and bladder cancer, where it serves as a potential biomarker for poor prognosis 3 4 5. Mutations in ASPM cause primary autosomal recessive microcephaly-5 (MCPH5), emphasizing its crucial role in neural stem cell division and brain development 6.

Sources cited

ASPM regulates microtubule dynamics at spindle poles and enhances microtubule lattice severing activity through katanin complex association

PMID: 39471460

ASPM promotes ATR-CHK1 activation, stabilizes stalled replication forks, and facilitates DNA repair

PMID: 36161901

ASPM is upregulated in early-stage lung adenocarcinoma and serves as a potential biomarker

PMID: 38555814

ASPM expression is elevated in pancreatic adenosquamous carcinoma stem-like cancer cells

PMID: 34326696

ASPM upregulation in bladder cancer correlates with poor prognosis and metastasis

PMID: 32274607

ASPM mutations are associated with primary autosomal recessive microcephaly-5

PMID: 27454254

Disease Associations21

autosomal recessive primary microcephalyOpen Targets

0.79Strong

genetic disorderOpen Targets

0.55Moderate

microcephaly 1, primary, autosomal recessiveOpen Targets

0.51Moderate

macular degenerationOpen Targets

0.51Moderate

microcephalyOpen Targets

0.50Moderate

Abnormality of the nervous systemOpen Targets

0.48Moderate

age-related macular degenerationOpen Targets

0.47Moderate

arthrogryposis multiplex congenitaOpen Targets

0.41Moderate

fetal akinesia deformation sequenceOpen Targets

0.41Moderate

fetal akinesia deformation sequence 1Open Targets

0.41Moderate

LissencephalyOpen Targets

0.34Weak

Intellectual disabilityOpen Targets

0.32Weak

ovarian neoplasmOpen Targets

0.28Weak

degeneration of macula and posterior poleOpen Targets

0.25Weak

retinopathyOpen Targets

0.24Weak

hepatocellular carcinomaOpen Targets

0.22Weak

lung adenocarcinomaOpen Targets

0.21Weak

gliomaOpen Targets

0.21Weak

bladder transitional cell carcinomaOpen Targets

0.20Weak

breast carcinomaOpen Targets

0.20Weak

Microcephaly 5, primary, autosomal recessiveUniProt

Pathogenic Variants353

NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided

★★☆☆2026→ Residue 1326

NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|See cases

★★☆☆2026→ Residue 3064

NM_018136.5(ASPM):c.7105C>T (p.Gln2369Ter)Pathogenic

not provided

★★☆☆2025→ Residue 2369

NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided

★★☆☆2025→ Residue 3152

NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|Microcephaly 1, primary, autosomal recessive|Inborn genetic diseases|ASPM-related disorder

★★☆☆2025→ Residue 2595

NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|See cases

★★☆☆2025→ Residue 3233

NM_018136.5(ASPM):c.7974C>A (p.Tyr2658Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided

★★☆☆2025→ Residue 2658

NM_018136.5(ASPM):c.2419+2T>CPathogenic

Microcephaly 5, primary, autosomal recessive|not provided|Autosomal recessive primary microcephaly

★★☆☆2025

NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|Microcephaly 1, primary, autosomal recessive

★★☆☆2025→ Residue 3244

NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided

★★☆☆2025→ Residue 2184

NM_018136.5(ASPM):c.6545_6548del (p.Val2182fs)Pathogenic

not provided|Microcephaly 5, primary, autosomal recessive

★★☆☆2025→ Residue 2182

NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided

★★☆☆2025→ Residue 2731

NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|Autosomal recessive primary microcephaly|Inborn genetic diseases

★★☆☆2025→ Residue 3060

NM_018136.5(ASPM):c.637del (p.Ile213fs)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|Developmental and epileptic encephalopathy 116

★★☆☆2025→ Residue 213

NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|Inborn genetic diseases|not provided

★★☆☆2025→ Residue 3390

NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|Developmental and epileptic encephalopathy 116

★★☆☆2025→ Residue 2445

NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided

★★☆☆2025→ Residue 2078

NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter)Pathogenic

not provided|Microcephaly 5, primary, autosomal recessive

★★☆☆2025→ Residue 2700

NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)Pathogenic

not provided|Microcephaly 5, primary, autosomal recessive|Developmental and epileptic encephalopathy 116

★★☆☆2025→ Residue 385

NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)Pathogenic

Microcephaly 5, primary, autosomal recessive|not provided|Developmental and epileptic encephalopathy 116

★★☆☆2025→ Residue 931

Tissue Expression6 tissues

Bone Marrow

100%

Brain

12%

Lung

Heart

Liver

Ovary

Gene Interaction Network6 neighbors

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q8IZT6

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ConstraintgnomAD v4.1

LOEUFⓘ

0.77LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.69 [0.62–0.77]

Rankings3 dim

Where ASPM stands among ~20K protein-coding genes

#2,877of 20,598
Most Researched156 · top quartile
#165of 5,509
Most Pathogenic Variants353 · top 5%
#6,177of 17,882
Most Constrained (LOEUF)0.77