Target intelligence / Profile preview

Structural maintenance of chromosomes protein 1A (SMC1A)

Target
SMC1A
Molecular classification
Cohesin complex subunit, Structural maintenance of chromosomes (SMC) protein family, ATPase (ABC-type ATPase motif), Chromosome-associated protein
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Overview

Structural maintenance of chromosomes protein 1A (SMC1A) is a core subunit of the cohesin complex, a highly conserved multi-protein structure required for holding sister chromatids together during the cell cycle, facilitating proper chromosome segregation, regulating DNA repair, and maintaining genome stability[1][2][3][4][5]. SMC1A is an ATPase protein and a member of the structural maintenance of chromosomes (SMC) protein family. In addition to its role in cohesion, SMC1A participates in DNA loop formation, gene transcription regulation, and DNA damage responses. Mutations in the SMC1A gene are linked to developmental disorders—most notably Cornelia de Lange syndrome—and have been implicated in various cancers due to their effects on genomic stability and cell cycle checkpoints. SMC1A itself is not considered a direct drug target, though dysregulation contributes to disease and is a subject of research interest in oncology and developmental genetics.

Other names
SMC1ASMC1 alphaStructural maintenance of chromosomes 1ASMC1L1
02

Mechanism of action

Not applicable; SMC1A is not currently a direct therapeutic target for approved drugs, but proposed mechanisms for targeted inhibition would include interfering with cohesin ring dynamics, ATPase activity, or protein-protein interactions within the cohesin complex[5].

03

Biological functions

Sister chromatid cohesionChromosome segregationChromosome condensationDNA repairCell cycle regulationGenome stability maintenanceRegulation of gene transcription
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Disease associations

Cancer (due to role in genome instability and DNA repair)Developmental disorders (e.g., Cornelia de Lange syndrome)Other: Various chromosomal segregation disorders, Aneuploidy syndromes
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Safety considerations

Loss of essential chromosome segregation functionGenome instabilityCellular lethalityLoss of DNA repair capacityDevelopmental defects
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Biomarkers

SMC1A mutations or expression patterns have been investigated as biomarkers for some cancers and are associated with Cornelia de Lange syndrome[3][5].

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