gene 847 words KG: SMC1A 2026-03-21
kind:genesection:genesstate:published
Contents

SMC1A

🧬 Gene Info
Gene SymbolSMC1A
Full NameStructural Maintenance of Chromosomes 1A
ChromosomeXp11.22
UniProt IDQ14683
NCBI Gene ID27151
Ensembl IDENSG00000101057
OMIM300040
GeneCardsSMC1A
Human Protein AtlasSMC1A
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Protein ClassCohesin complex subunit
Molecular FunctionSister chromatid cohesion, DNA repair, gene regulation
p.R258CMissense
p.E1287KMissense
p.Q776Nonsense
Associated DiseasesAls, Cornelia de Lange syndrome, breast cancer, colorectal cancer, developmental and epileptic encephalopathy, epilepsy
InteractionsAKT
KG Connections16 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

Related Hypotheses (2)

Chromatin Accessibility Restoration via BRD4 Modulation
Score: 0.56
Astrocyte-Mediated Neuronal Epigenetic Rescue
Score: 0.48

Related Analyses (2)

Epigenetic reprogramming in aging neurons
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (4)

Cognitive Reserve Mechanisms in Alzheimer's Disease — Molecu
clinical · proposed · Score: 0.40
Epigenetic Dysregulation in Huntington's Disease — Therapeut
validation · proposed · Score: 0.40
Epigenetic Dysregulation Validation in Parkinson's Disease
clinical · proposed · Score: 0.40
Epigenetic Regulation Dysfunction in Alzheimer's and Parkins
clinical · proposed · Score: 0.40

See Also (10)

Packard Center for ALS Research
institution · KG edge: associated_with
STMN1 — Stathmin 1
gene · KG edge: regulates
SMC3 - Structural Maintenance of Chromosomes 3
gene · KG edge: associated_with
RAD21 — Cohesin Complex Component in Neurodegeneration
gene · KG edge: associated_with
NIPBL - Nipped-B Like (Cohesin Loader)
gene · KG edge: associated_with

Knowledge Graph (12 edges)

SMC1A regulates STMN1
SMC1A activates AKT
SMC1A causes breast cancer
SMC1A associated_with colorectal cancer
SMC1A causes Cornelia de Lange syndrome
SMC1A causes developmental and epileptic encephalopathy
SMC1A associated_with intellectual disability
SMC1A associated_with epilepsy
SMC1A upregulates systemic lupus erythematosus
SMC1A associated_with ANKRD11