Affinage

SMC1A

Structural maintenance of chromosomes protein 1A · UniProt Q14683

Length
1233 aa
Mass
143.2 kDa
Annotated
2026-06-10
76 papers in source corpus 14 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SMC1A encodes a conserved ATPase subunit of the cohesin ring that mediates sister chromatid cohesion and chromosome segregation; it pairs an N-terminal NTP-binding site, a central coiled-coil, and a C-terminal helix-loop-helix domain in an architecture shared with force-generating motor proteins (PMID:7757074). Within cohesin, the SMC1A and SMC3 ATPase domains undergo concerted, ATP-dependent conformational rearrangements: SMC1A's proximal coiled coil is conformationally stable while SMC3's is intrinsically flexible, and engagement of the heterodimer, NIPBL/DNA-driven clamping, and opening of the SMC3/RAD21 interface remodel the DNA-binding chamber through interface plasticity that keeps the ATP gate shut (PMID:39240714). SMC1A activity is tuned by post-translational regulation in mitosis: SIRT2 binds and deacetylates SMC1A at K579, which in turn licenses its phosphorylation to drive proper chromosome segregation and prevent mitotic catastrophe (PMID:33627431). Beyond cohesion, SMC1A acts as a chromatin architectural factor that facilitates enhancer–promoter looping, partnering with the chromatin organizer SATB1 to establish chromatin contacts and redistributing to active enhancers of inflammatory cytokine genes to amplify their transcription (PMID:41285778). Cornelia de Lange syndrome–associated SMC1A mutations increase the DNA-binding affinity of the hinge domain and produce genomic instability with sensitivity to genotoxic agents (PMID:18996922), and engineering these mutations into the orthologous gene directly impairs sister chromatid cohesion, mitotic progression, and DNA damage tolerance (PMID:37650609). In humans, the SMC1A locus escapes X chromosome inactivation, unlike its mouse ortholog (PMID:7757075, PMID:7757076).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1995 Medium

    Established SMC1A's identity as a conserved chromosome segregation protein by defining its motor-like domain architecture, before any direct functional assay existed.

    Evidence Sequence analysis, structural comparison, and chromosomal mapping of the human SB1.8/DXS423E gene

    PMID:7757074

    Open questions at the time
    • Domain assignment was inferred from homology, not biochemistry
    • No demonstration of cohesin assembly or ATPase activity
  2. 1995 Medium

    Resolved the X-inactivation status of the locus, showing the human gene escapes inactivation whereas the mouse ortholog does not, defining a species-specific dosage difference.

    Evidence Somatic cell hybrid expression analysis in human; restriction/sequence analysis in mice with Searle's translocation

    PMID:7757075 PMID:7757076

    Open questions at the time
    • Functional consequence of escape for SMC1A dosage in cohesin not addressed
    • Mechanism of escape unknown
  3. 2008 High

    Showed that CdLS-causing hinge mutations alter SMC1A-DNA interaction biochemically, linking the disease to dysregulated cohesin-DNA dynamics rather than loss of expression.

    Evidence In vitro DNA binding affinity assays of mutant hinge domains plus genotoxic sensitivity assays on patient cell lines

    PMID:18996922

    Open questions at the time
    • Higher DNA affinity not connected to a defined step of the ATPase cycle
    • Cohesion defect not directly measured in this study
  4. 2009 Medium

    Distinguished SMC1A-CdLS from NIPBL-CdLS at the expression level, supporting a dominant-negative mode of action for mutant SMC1A protein.

    Evidence Quantitative and allelic expression analysis with transcriptional profiling of CdLS patient samples

    PMID:19701948

    Open questions at the time
    • Dominant-negative mechanism inferred from expression, not protein assay
    • Functional readout limited to transcript signatures
  5. 2011 Medium

    Identified a specific residue (R496) required for the SMC1A DNA damage response, extending the genotype-function map beyond the hinge.

    Evidence Genotoxic sensitivity assays on patient-derived cells carrying p.Arg496His

    PMID:22140011

    Open questions at the time
    • Single mutation, no reconstitution
    • Molecular role of R496 in cohesin undefined
  6. 2016 Medium

    Placed SMC1A under post-transcriptional control, with miR-638 suppressing SMC1A to limit DNA damage repair capacity during differentiation.

    Evidence Luciferase reporter validation of miR-638 targeting, Western blot, and γH2AX recruitment assay

    PMID:27405111

    Open questions at the time
    • Physiological contexts of miR-638 regulation beyond differentiation unclear
    • Direct cohesin consequence not measured
  7. 2018 Medium

    Demonstrated that phosphorylation at S957/S966 is functionally required for SMC1A's pro-proliferative, pro-migratory activity in cancer cells.

    Evidence SMC1A knockdown with phosphomimetic S957D/S966D rescue, proliferation/migration assays, and xenograft

    PMID:29988990

    Open questions at the time
    • Upstream kinase not identified in this study
    • Mechanistic link from phosphorylation to motility not resolved
  8. 2021 High

    Defined a deacetylation-phosphorylation regulatory axis, showing SIRT2 deacetylation of SMC1A K579 licenses its phosphorylation to ensure faithful mitosis.

    Evidence Mass spectrometry, Co-IP, deacetylation assays, K579 acetylation mutants, and chromosome segregation/viability assays

    PMID:33627431

    Open questions at the time
    • Coupling between K579 deacetylation and the specific phospho-sites not structurally defined
    • Whether this axis operates outside mitosis unknown
  9. 2021 Medium

    Established SMC1A as a sequence-specific chromatin regulator of transcription, binding the SNAIL promoter downstream of KIAA1429-mediated mRNA stabilization to drive EMT.

    Evidence RNA-protein pulldown, mRNA stability assay, promoter chromatin binding, and in vivo metastasis model in breast cancer

    PMID:34976433

    Open questions at the time
    • Whether SNAIL activation requires intact cohesin or a non-cohesin SMC1A role unclear
    • Direct vs cohesin-mediated promoter occupancy not separated
  10. 2023 High

    Provided causal genetic proof that CdLS mutations directly impair cohesion function, mitotic progression, and DNA damage tolerance via knock-in to the orthologous gene.

    Evidence Budding yeast knock-in of CdLS mutations with sister chromatid cohesion, mitotic, and DNA damage sensitivity assays

    PMID:37650609

    Open questions at the time
    • Yeast system may not capture human-specific regulation
    • Quantitative link between altered DNA affinity and cohesion loss not fully resolved
  11. 2024 High

    Resolved the conformational logic of the cohesin ATPase cycle, defining SMC1A's stable coiled coil and the engaged/clamped/open-engaged transitions that remodel the DNA-binding chamber.

    Evidence Structural characterization of distinct ATPase states with biochemical ATPase assays and domain-specific conformational analysis

    PMID:39240714

    Open questions at the time
    • How CdLS hinge mutations perturb these defined states not directly tested
    • In-cell relevance of each state not validated
  12. 2025 Medium

    Connected SMC1A to chromatin looping and to inflammatory gene activation, via SATB1 partnership and enhancer redistribution in immune cells.

    Evidence Co-IP/ChIP-seq/Hi-C with Satb1 knockout (preprint); SMC1A ChIP-seq with ATAC-seq/H3K27ac, transcriptomics, and cytokine secretion in SLE monocytes

    PMID:41285778

    Open questions at the time
    • SATB1 interaction reported only in preprint
    • Whether enhancer redistribution requires the full cohesin ring not established
  13. 2026 Medium

    Showed SMC1A facilitates enhancer-promoter contacts to activate Nestin in HCC, with IGF2BP1-mediated m6A stabilization sustaining SMC1A levels.

    Evidence Chromatin conformation assays, SMC1A knockdown with Nestin rescue, IGF2BP1-SMC1A mRNA binding, m6A mapping, and xenografts

    PMID:42170732

    Open questions at the time
    • Selectivity of SMC1A for the Nestin locus not mechanistically explained
    • Relationship between this looping role and canonical cohesin function unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SMC1A's post-translational modifications and partner-directed enhancer targeting are integrated with the structurally defined ATPase cycle to switch the same protein between cohesion, DNA repair, and transcriptional architecture remains unresolved.
  • No structural mapping of CdLS, acetylation, or phospho-sites onto defined ATPase states
  • Cohesin-dependent vs independent transcriptional roles not separated
  • Tissue-specific control of SMC1A targeting undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 3 GO:0003677 DNA binding 2 GO:0005198 structural molecule activity 2 GO:0140657 ATP-dependent activity 1
Localization
GO:0005634 nucleus 2 GO:0005694 chromosome 2
Pathway
R-HSA-4839726 Chromatin organization 3 R-HSA-73894 DNA Repair 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1640170 Cell Cycle 2
Partners
NIPBLRAD21SATB1SIRT2SMC3
Complex memberships
cohesin

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 The human SB1.8/DXS423E gene (SMC1A) encodes a protein of 1233 amino acids homologous to yeast SMC1, containing an N-terminal NTP binding site, a central coiled-coil region, and a C-terminal helix-loop-helix domain — structural features shared with force-generating proteins myosin and kinesin — establishing it as a conserved chromosome segregation protein. Sequence analysis, structural comparison, chromosomal mapping Human molecular genetics Medium 7757074
1995 The human DXS423E/SMC1A gene escapes X chromosome inactivation, as demonstrated by expression in somatic cell hybrids retaining the inactive human X chromosome; this defines a new region in proximal Xp11.21 not subject to X inactivation. Somatic cell hybrid expression analysis Human molecular genetics Medium 7757075
1995 In contrast to the human gene, the mouse Sb1.8 (SMC1A ortholog) is subject to X inactivation, establishing species-specific difference in X-inactivation escape for this locus. Restriction enzyme analysis and sequence analysis of mRNA from mice with Searle's translocation; cell line analysis Human molecular genetics Medium 7757076
2008 CdLS-associated mutated SMC1A and SMC3 hinge domains bind DNA with higher affinity than wild-type proteins; CdLS cell lines with these mutations display genomic instability and sensitivity to ionizing radiation and interstrand crosslinking agents, indicating that CdLS mutations affect the dynamic association between SMC1A and DNA. In vitro DNA binding affinity assay of mutant hinge domains, genotoxic sensitivity assays on patient cell lines Human molecular genetics High 18996922
2009 SMC1A-related CdLS is not caused by altered levels of SMC1A transcript; both wild-type and mutant alleles are expressed, and females express ~2× more SMC1A mRNA than males. Transcriptional profiling shows distinct gene expression signatures in SMC1A mutant versus NIPBL mutant CdLS, consistent with a dominant-negative effect of mutant SMC1A protein in females. Quantitative gene expression analysis, transcriptional profiling of 23 selected genes, allelic expression analysis Human mutation Medium 19701948
2011 SMC1A mutations at codon 496 (p.Arg496His) impair the cellular response to genotoxic treatments, establishing that this residue is required for normal DNA damage response function of SMC1A. Genotoxic sensitivity assays on patient-derived cell lines carrying specific SMC1A mutation American journal of medical genetics. Part A Medium 22140011
2016 miR-638 directly targets SMC1A mRNA (validated by luciferase reporter assay) and suppresses SMC1A protein expression during terminal differentiation, thereby reducing DNA damage repair capacity and γH2AX recruitment to DNA break sites. Luciferase reporter assay, Western blot, γH2AX recruitment assay Aging Medium 27405111
2018 Phosphorylated SMC1A (at S957 and S966) promotes hepatocellular carcinoma cell proliferation and migration; phosphomimetic mutants S957D/S966D rescue proliferation and migration defects caused by SMC1A knockdown, establishing that phosphorylation of these residues is functionally important for SMC1A oncogenic activity. SMC1A knockdown, phosphomimetic mutant re-expression, proliferation and migration assays, in vivo xenograft International journal of biological sciences Medium 29988990
2021 SIRT2 physically interacts with SMC1A (identified by mass spectrometry) and deacetylates it; deacetylation of SMC1A then promotes its phosphorylation to properly drive mitosis. Inhibition of SIRT2 or sustained SMC1A-K579 acetylation causes abnormal chromosome segregation and mitotic catastrophe, establishing a deacetylation-phosphorylation regulatory axis for SMC1A in mitosis. Mass spectrometry, Co-IP, deacetylation assays, site-specific acetylation mutants, chromosome segregation assays, cell viability assays Science advances High 33627431
2021 KIAA1429 binds the 3' UTR motif of SMC1A mRNA directly and enhances SMC1A mRNA stability in an m6A-independent manner; SMC1A in turn binds the SNAIL promoter region and promotes SNAIL transcription, thereby driving EMT in breast cancer. This defines a KIAA1429/SMC1A/SNAIL axis. RNA binding protein pulldown, mRNA stability assay, chromatin binding (promoter), knockdown/overexpression functional assays, in vivo metastasis model Molecular therapy. Nucleic acids Medium 34976433
2023 CdLS-associated SMC1A mutations introduced into the budding yeast SMC1A ortholog caused measurable defects in sister chromatid cohesion, mitotic progression, and DNA damage sensitivity, establishing that cohesion function is directly impaired by CdLS mutations. Yeast genetic system with CdLS mutation knock-in, sister chromatid cohesion assays, mitotic progression assays, DNA damage sensitivity assays Genetics High 37650609
2024 The SMC1A and SMC3 ATPase domains undergo specific but concerted structural rearrangements during the cohesin ATPase cycle: the SMC1A proximal coiled coil is conformationally stable, while SMC3's is intrinsically flexible; ATP-dependent SMC1A/SMC3 heterodimer engagement (engaged state) favors SMC3 flexibility, which is counteracted by NIPBL and DNA binding (clamped state); opening of the SMC3/RAD21 interface (open-engaged state) stiffens SMC3 and constricts the DNA-binding chamber. Interface plasticity between SMC1A and SMC3 ATPase domains enables these rearrangements while keeping the ATP gate shut. Structural characterization (cryo-EM/crystallography implied by 'characterize distinct steps'), biochemical ATPase assays, domain-specific conformational analysis Cell reports High 39240714
2025 SMC1A physically interacts with the chromatin organizer SATB1; SATB1 deletion results in aberrant SMC1A binding and reduced chromatin contacts at co-occupied sites, establishing that SATB1 facilitates chromatin looping through direct interaction with the cohesin complex (including SMC1A) during T cell development. Co-immunoprecipitation, ChIP-seq, chromatin interaction analysis (Hi-C or similar), Satb1 knockout bioRxivpreprint Medium
2025 In SLE monocytes, SMC1A redistributes to active enhancers of immune/inflammatory genes and induces their transcription; SMC1A shows female-biased expression in SLE monocytes. Increased SMC1A binding at enhancers of cytokine genes (e.g., IL6) is associated with enhanced cytokine secretion, establishing SMC1A as a chromatin regulatory factor that amplifies inflammatory gene expression. ChIP-seq (SMC1A binding), chromatin accessibility and activity profiling (ATAC-seq, H3K27ac), transcriptome analysis, cytokine secretion assay Nature communications Medium 41285778
2026 SMC1A facilitates enhancer-promoter interactions at the Nestin locus to activate Nestin transcription in HCC; Nestin overexpression rescues malignant phenotypes after SMC1A depletion. Upstream, IGF2BP1 binds m6A-modified regions in the SMC1A 3'-UTR and stabilizes SMC1A mRNA, maintaining the SMC1A-Nestin axis. ChIP/chromatin conformation assay (enhancer-promoter interaction), SMC1A knockdown with Nestin rescue, RNA-protein binding assay (IGF2BP1-SMC1A mRNA), m6A site mapping, xenograft model Advanced science Medium 42170732

Source papers

Stage 0 corpus · 76 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. American journal of human genetics 416 17273969
2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nature genetics 361 16604071
2008 Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Human molecular genetics 93 18996922
2017 Phenotypes and genotypes in individuals with SMC1A variants. American journal of medical genetics. Part A 82 28548707
2010 Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. American journal of medical genetics. Part A 71 20358602
2018 Long noncoding RNA NEAT1 modulates cell proliferation and apoptosis by regulating miR-23a-3p/SMC1A in acute myeloid leukemia. Journal of cellular physiology 64 30246348
2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Human mutation 61 17221863
2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Human mutation 60 19842212
2021 SMC1A regulated by KIAA1429 in m6A-independent manner promotes EMT progress in breast cancer. Molecular therapy. Nucleic acids 46 34976433
2009 SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Human mutation 46 19701948
2017 Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia 45 28166369
2020 Knockdown of lncRNA TUG1 Enhances Radiosensitivity of Prostate Cancer via the TUG1/miR-139-5p/SMC1A Axis. OncoTargets and therapy 44 32256083
2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. Journal of proteome research 40 23106691
1995 The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Human molecular genetics 40 7757075
2021 The deacetylation-phosphorylation regulation of SIRT2-SMC1A axis as a mechanism of antimitotic catastrophe in early tumorigenesis. Science advances 39 33627431
2020 The multiple facets of the SMC1A gene. Gene 38 32222533
2019 Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development. Journal of experimental & clinical cancer research : CR 38 30823889
2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clinical genetics 38 26752331
2016 SMC1A recruits tumor-associated-fibroblasts (TAFs) and promotes colorectal cancer metastasis. Cancer letters 35 27826041
2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. European journal of medical genetics 31 26386245
2018 SMC1A is associated with radioresistance in prostate cancer and acts by regulating epithelial-mesenchymal transition and cancer stem-like properties. Molecular carcinogenesis 29 30242889
2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. American journal of medical genetics. Part A 29 26358754
2013 Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. American journal of medical genetics. Part A 29 24124034
2018 Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. Human molecular genetics 26 29860495
2016 SMC1A promotes growth and migration of prostate cancer in vitro and in vivo. International journal of oncology 26 27667360
2011 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. American journal of medical genetics. Part A 26 22106055
2013 SMC1A knockdown induces growth suppression of human lung adenocarcinoma cells through G1/S cell cycle phase arrest and apoptosis pathways in vitro. Oncology letters 24 23426528
1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. Human molecular genetics 24 7757074
2013 Knocking down SMC1A inhibits growth and leads to G2/M arrest in human glioma cells. International journal of clinical and experimental pathology 23 23638217
2016 miR-638 suppresses DNA damage repair by targeting SMC1A expression in terminally differentiated cells. Aging 22 27405111
2013 siRNA-mediated knockdown of SMC1A expression suppresses the proliferation of glioblastoma cells. Molecular and cellular biochemistry 22 23754617
2023 PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A. Cancer medicine 20 37212524
2018 Phosphorylation of SMC1A promotes hepatocellular carcinoma cell proliferation and migration. International journal of biological sciences 20 29988990
2011 SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. American journal of medical genetics. Part A 18 22140011
2023 tRF-20-M0NK5Y93-induced MALAT1 promotes colon cancer metastasis through alternative splicing of SMC1A. American journal of cancer research 16 37034215
2023 Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy. Genes 16 37107610
2015 Downregulation of SMC1A inhibits growth and increases apoptosis and chemosensitivity of colorectal cancer cells. The Journal of international medical research 15 26637483
2023 SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT. BMC gastroenterology 13 37537540
2017 MiR-9 Promotes Apoptosis Via Suppressing SMC1A Expression in GBM Cell Lines. Current chemical genomics and translational medicine 13 28868238
2022 Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. Journal of child neurology 12 35238682
2019 A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. Human genome variation 12 31098032
2013 Could a patient with SMC1A duplication be classified as a human cohesinopathy? Clinical genetics 12 23683030
2022 Scaling-down biopharmaceutical production processes via a single multi-compartment bioreactor (SMCB). Engineering in life sciences 11 36619888
2016 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. American journal of medical genetics. Part A 11 28102598
2014 Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls. Epigenetics 11 24756084
2008 Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes. Clinical genetics 11 18798846
2024 The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer. Journal of experimental & clinical cancer research : CR 10 38365745
2019 A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. Epilepsy research 10 31185419
1995 The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation. Human molecular genetics 9 7757076
2023 Effects of SMC1A on immune microenvironment and cancer stem cells in colon adenocarcinoma. Cancer medicine 8 37096492
2019 Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation. Cancer genetics 8 31425923
2020 A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. Cold Spring Harbor molecular case studies 7 32532882
2024 AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer. The journal of gene medicine 6 38282144
2024 SMC1A epilepsy syndrome: clinical data from a large international cohort. American journal of medical genetics. Part A 6 38421079
2024 The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains. Cell reports 5 39240714
2025 A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review. Molecular genetics & genomic medicine 4 39831465
2022 Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome. Frontiers in genetics 4 36246631
2019 [Proliferation, migration and apoptosis of acute myeloid leukemia cells regulated by mir-23a-3p targeting SMC1A and the mechanism]. Zhonghua zhong liu za zhi [Chinese journal of oncology] 4 31648497
2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. Annals of laboratory medicine 4 26354354
2024 Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas. Genes, chromosomes & cancer 3 39149945
2022 [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review]. Zhonghua er ke za zhi = Chinese journal of pediatrics 3 35658367
2021 Label-free proteomics uncovers SMC1A expression is Down-regulated in AUB-E. Reproductive biology and endocrinology : RB&E 3 33653363
2023 Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation. Epilepsy & behavior reports 2 38076278
2025 Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome. Scientific reports 1 40593079
2024 Hsa_circ_0000092 up-regulates IL24 by SMC1A to induce macrophages M2 polarization. Heliyon 1 39296099
2023 Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast. Genetics 1 37650609
2026 Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy. Epilepsia 0 41770211
2026 A novel missense variant in the SMC1A gene causing Cornelia de Lange syndrome in a Chinese neonate. Clinical biochemistry 0 41905567
2026 Master Regulator SMC1A, Stabilized by N6-Methyladenosine Reader IGF2BP1, Promotes HCC Progression Through Facilitating Enhancer-Promoter Interaction of Nestin. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 0 42170732
2025 Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene. Stem cell research 0 40541047
2025 Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review. Genes 0 41153413
2025 The sex-biased chromatin modifier SMC1A promotes autoimmunity by shaping inflammatory pathways in patients with SLE. Nature communications 0 41285778
2024 Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report. Neuropediatrics 0 39542017
2022 Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report. Brain & development 0 35589488
2021 [A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 34729759
2021 [Corrigendum] SMC1A promotes growth and migration of prostate cancer in vitro and in vivo. International journal of oncology 0 34751413

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