Affinage

SMC1A

Structural maintenance of chromosomes protein 1A · UniProt Q14683

Length
1233 aa
Mass
143.2 kDa
Annotated
2026-04-28
75 papers in source corpus 16 papers cited in narrative 16 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SMC1A is a core structural and catalytic subunit of the cohesin complex that, through its ATP-dependent heterodimerization with SMC3, mediates sister chromatid cohesion, chromosome segregation, and chromatin looping (PMID:39240714, PMID:37650609). During the cohesin ATPase cycle, the SMC1A proximal coiled coil remains conformationally stable while SMC3 displays intrinsic flexibility modulated by NIPBL and DNA binding; SIRT2-dependent deacetylation of SMC1A at K579 licenses subsequent phosphorylation at S957/S966, which is required for proper mitotic progression and chromosome segregation (PMID:39240714, PMID:33627431, PMID:29988990). Beyond cohesion, SMC1A functions as a transcriptional regulator by binding gene promoters and enhancers—including the SNAIL promoter to drive epithelial-mesenchymal transition and inflammatory gene enhancers in a female-biased manner in autoimmune monocytes—and participates in DNA damage repair, with CdLS-associated mutations causing aberrant high-affinity DNA binding, genomic instability, and impaired damage responses (PMID:34976433, PMID:41285778, PMID:18996922, PMID:22140011). Mutations in SMC1A cause Cornelia de Lange syndrome and developmental/epileptic encephalopathy 85, with nonsense variants producing the most severe transcriptomic disruption and being partially rescuable by readthrough therapy (PMID:19701948, PMID:41770211).

Mechanistic history

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

    Identification of SMC1A as a conserved chromosome-segregation protein with NTPase, coiled-coil, and helix-loop-helix domains established the structural framework for understanding its role in chromosome dynamics, and the concurrent finding that it escapes X inactivation explained why mutations produce clinical phenotypes in both sexes.

    Evidence Sequence/domain analysis of cloned human SB1.8/DXS423E gene; somatic cell hybrid expression analysis for X-inactivation escape

    PMID:7757074 PMID:7757075

    Open questions at the time
    • No biochemical demonstration of ATPase activity
    • In vivo cohesion function not yet tested in human cells
  2. 2008 High

    Demonstration that CdLS-associated SMC1A hinge-domain mutations increase DNA-binding affinity and cause genomic instability linked the disease mechanism to altered dynamic SMC–DNA association rather than simple loss of function.

    Evidence In vitro DNA binding assays of mutant hinge domains, genotoxin sensitivity and genomic instability assays in CdLS cell lines

    PMID:18996922

    Open questions at the time
    • Structural basis of aberrant DNA binding not resolved
    • Relationship between increased DNA affinity and cohesion defects not directly shown
  3. 2009 Medium

    Quantitative demonstration that SMC1A escapes X inactivation leading to double-dose expression in females, combined with allele-specific analysis, established that CdLS arises from dominant-negative effects in females and residual function in hemizygous males, explaining sex-dependent phenotypic variation.

    Evidence RT-PCR quantification, allele expression analysis, transcriptional profiling in CdLS patient cells

    PMID:19701948

    Open questions at the time
    • Dominant-negative mechanism not biochemically dissected
    • Effect on cohesin ring assembly not directly measured
  4. 2011 Medium

    A specific CdLS missense mutation (R496H) was shown to impair the DNA damage response, extending the functional consequences of SMC1A mutations beyond cohesion to genome integrity maintenance.

    Evidence Genotoxin sensitivity assays in patient-derived cells carrying p.Arg496His

    PMID:22140011

    Open questions at the time
    • Molecular mechanism by which R496H impairs DDR signaling unknown
    • Phenotype tested with limited genotoxic agents
  5. 2016 Medium

    Identification of miR-638 as a direct post-transcriptional repressor of SMC1A revealed a mechanism linking terminal differentiation to reduced DNA damage repair capacity via suppression of γH2AX recruitment.

    Evidence Luciferase reporter assay validating miR-638/SMC1A 3′UTR interaction, western blot, γH2AX recruitment analysis in differentiation model

    PMID:27405111

    Open questions at the time
    • Relevance beyond specific differentiation model not tested
    • Other miRNAs targeting SMC1A not systematically assessed
  6. 2018 Medium

    Phosphorylation of SMC1A at S957 and S966 was shown to be functionally important for cell proliferation and migration through phosphomimetic mutant analysis, establishing these sites as key regulatory modifications.

    Evidence SMC1A knockdown/re-expression of S957D/S966D phosphomimetic mutants, proliferation/migration assays, in vivo tumor growth in HCC

    PMID:29988990

    Open questions at the time
    • Kinase(s) responsible for S957/S966 phosphorylation in this context not identified
    • Whether these sites regulate cohesion vs. transcriptional functions not distinguished
  7. 2021 High

    Discovery that SIRT2 deacetylates SMC1A at K579 and that this deacetylation is a prerequisite for phosphorylation-dependent mitotic progression established a sequential acetylation–phosphorylation switch controlling SMC1A's cell-cycle function.

    Evidence Mass spectrometry identification of K579 acetylation, Co-IP for SIRT2–SMC1A interaction, acetylation-mimetic mutagenesis, chromosome segregation and mitotic catastrophe assays

    PMID:33627431

    Open questions at the time
    • Acetyltransferase responsible for K579 acetylation not identified
    • Relationship between K579 deacetylation and S957/S966 phosphorylation not fully mapped
  8. 2021 Medium

    Demonstration that SMC1A directly binds the SNAIL promoter to activate transcription and EMT, downstream of KIAA1429-mediated mRNA stabilization, established a non-canonical transcription-activating role for SMC1A beyond its cohesion function.

    Evidence ChIP for SMC1A at SNAIL promoter, RIP for KIAA1429–SMC1A mRNA interaction, knockdown/rescue, in vivo metastasis assays in breast cancer cells

    PMID:34976433

    Open questions at the time
    • Whether SMC1A binds SNAIL promoter as part of intact cohesin or independently not determined
    • Genome-wide scope of SMC1A promoter binding not assessed in this system
  9. 2023 Medium

    Modeling CdLS mutations in yeast SMC1 demonstrated measurable cohesion defects, mitotic progression delays, and DNA damage sensitivity, providing direct genetic evidence that impaired sister chromatid cohesion is a core mechanism of CdLS pathology.

    Evidence Yeast genetics with CdLS-equivalent mutations, sister chromatid cohesion assays, DNA damage sensitivity assays

    PMID:37650609

    Open questions at the time
    • Yeast model may not capture all cohesin regulatory complexity of mammalian cells
    • Specific CdLS mutations tested are a subset of known variants
  10. 2023 Medium

    A tRF/MALAT1/SRSF2 axis was found to regulate alternative splicing of SMC1A into multiple isoforms, linking non-coding RNA pathways to cohesin isoform diversity and cancer metastasis.

    Evidence Transcriptome sequencing, RIP for MALAT1–SRSF2 interaction, tRF–MALAT1 binding assays, isoform detection, functional metastasis assays in colon cancer

    PMID:37034215

    Open questions at the time
    • Functional differences among SMC1A splice isoforms not characterized
    • Whether isoform switching occurs in non-cancer contexts unknown
  11. 2024 High

    Structural resolution of distinct ATPase cycle states revealed that SMC1A's proximal coiled coil is conformationally rigid while SMC3 flexes during ATP hydrolysis, with NIPBL and DNA jointly clamping the complex—providing the first mechanistic model of how the cohesin ring opens and closes around DNA.

    Evidence Crystal structures/cryo-EM of multiple ATPase cycle intermediates, biochemical reconstitution

    PMID:39240714

    Open questions at the time
    • Full-length cohesin dynamics on chromatin in vivo not captured
    • How CdLS mutations map onto these structural states not modeled
  12. 2025 Medium

    SMC1A was shown to redistribute to immune/inflammatory gene enhancers in SLE monocytes in a female-biased manner, directly linking X-inactivation escape and cohesin-mediated chromatin looping to sex-biased autoimmune gene regulation.

    Evidence ChIP-seq for SMC1A, ATAC-seq, transcriptome analysis, cytokine secretion assays in lupus monocytes

    PMID:41285778

    Open questions at the time
    • Causal role of SMC1A dosage in autoimmune pathogenesis not genetically demonstrated
    • Whether SMC1A acts at enhancers as part of intact cohesin complex not resolved
  13. 2026 Medium

    Distinction between SMC1A nonsense variants (DEE85, severe transcriptomic disruption) and missense variants (CdLS, milder disruption) established mutation-type-specific pathogenic mechanisms, and pharmacological readthrough with ataluren partially rescued protein expression and genomic instability.

    Evidence Transcriptomic profiling of patient-derived cell lines, ataluren readthrough treatment, protein expression assays

    PMID:41770211

    Open questions at the time
    • Ataluren efficacy in vivo/clinical setting unknown
    • Mechanism by which partial SMC1A restoration corrects transcriptomic defects not detailed

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key open questions include: the acetyltransferase writing K579 acetylation; structural mapping of CdLS mutations onto resolved ATPase cycle states; whether SMC1A's transcriptional roles at promoters and enhancers require the intact cohesin ring or occur through subcomplexes; and the functional significance of alternative SMC1A splice isoforms.
  • Acetyltransferase for K579 not identified
  • No structural model of CdLS mutations in context of ATPase cycle intermediates
  • Cohesin-independent vs. cohesin-dependent transcriptional functions not genetically separated

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003677 DNA binding 3 GO:0140110 transcription regulator activity 2 GO:0140657 ATP-dependent activity 2
Localization
GO:0005694 chromosome 4 GO:0005634 nucleus 2
Pathway
R-HSA-1640170 Cell Cycle 3 R-HSA-73894 DNA Repair 3 R-HSA-4839726 Chromatin organization 2 R-HSA-74160 Gene expression (Transcription) 2
Partners
KIAA1429NIPBLRAD21SATB1SIRT2SMC3
Complex memberships
cohesin

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 The human SB1.8 (DXS423E/SMC1A) gene encodes a protein of 1233 amino acids homologous to yeast SMC1, containing an N-terminal NTP binding site, central coiled-coil region, and C-terminal helix-loop-helix domain, establishing it as a conserved chromosome segregation protein with structural similarity to force-generating proteins myosin and kinesin. Sequence analysis, structural domain prediction, homology comparison Human molecular genetics High 7757074
1995 The human SMC1A (DXS423E) gene escapes X chromosome inactivation, as demonstrated by expression in somatic cell hybrids retaining either the active or inactive human X chromosome. Somatic cell hybrid expression analysis Human molecular genetics High 7757075
2008 CdLS-associated mutant SMC1A and SMC3 hinge domains bind DNA with higher affinity than wild-type proteins, and CdLS cell lines with these mutations display genomic instability and sensitivity to ionizing radiation and interstrand crosslinking agents, demonstrating that CdLS mutations alter the dynamic association between SMC proteins and DNA. DNA binding affinity assays of mutant hinge domains, genotoxin sensitivity assays, genomic instability analysis Human molecular genetics High 18996922
2009 SMC1A escapes X inactivation so that both wild-type and mutant alleles are expressed in female CdLS patients; females express twice the amount of SMC1A mRNA as males, and SMC1A mutations cause CdLS not through altered transcript levels but through a dominant negative effect of the mutant protein in females and residual function in males. RT-PCR expression quantification, transcriptional profiling of 23 selected genes, allele expression analysis Human mutation Medium 19701948
2011 SMC1A codon 496 (Arg496His) mutation leads to impairment of the cellular response to genotoxic treatments, demonstrating that specific CdLS-associated SMC1A mutations affect the DNA damage response pathway. Genotoxin sensitivity assays in patient-derived cell lines carrying p.Arg496His mutation American journal of medical genetics. Part A Medium 22140011
2016 miR-638 directly targets SMC1A (validated by luciferase reporter assay), suppressing its expression during terminal differentiation, thereby reducing DNA damage repair capacity and the recruitment of γH2AX to DNA break sites. Luciferase reporter assay, western blot, γH2AX recruitment analysis, cell differentiation model Aging Medium 27405111
2021 SIRT2 interacts with and deacetylates SMC1A at K579; this deacetylation promotes subsequent SMC1A phosphorylation to properly drive mitosis. Inhibition of SIRT2 or forced acetylation of SMC1A-K579 causes abnormal chromosome segregation and mitotic catastrophe in cancer cells. Mass spectrometry, Co-IP, site-directed mutagenesis (acetylation-mimetic mutants), functional mitosis assays, chromosome segregation analysis Science advances High 33627431
2021 KIAA1429 binds directly to the 3' UTR motif of SMC1A mRNA to enhance SMC1A mRNA stability (independent of m6A modification); SMC1A then directly binds the SNAIL promoter to promote SNAIL transcription and drive EMT in breast cancer cells. RIP assay for KIAA1429-SMC1A mRNA interaction, ChIP for SMC1A binding to SNAIL promoter, knockdown/rescue experiments, in vivo metastasis assays Molecular therapy. Nucleic acids Medium 34976433
2018 Phosphorylated SMC1A (at S957 and S966) promotes hepatocellular carcinoma cell proliferation and migration; phosphomimetic mutants S957D/S966D significantly enhance these activities, demonstrating that phosphorylation at these specific residues is functionally important. SMC1A knockdown, re-expression of phosphomimetic mutants (S957D/S966D), proliferation and migration assays, in vivo tumor growth International journal of biological sciences Medium 29988990
2024 The human cohesin ATPase cycle involves distinct structural rearrangements of SMC1A and SMC3 ATPase domains: the proximal coiled coil of SMC1A remains conformationally stable while SMC3 displays intrinsic flexibility. ATP-dependent formation of the SMC1A/SMC3 heterodimeric ATPase module (engaged state) promotes SMC3 flexibility, which is counteracted by NIPBL and DNA binding (clamped state); opening of the SMC3/RAD21 interface stiffens SMC3 and constricts the DNA-binding chamber. Structural biology (crystal structures/cryo-EM), biochemical reconstitution of distinct ATPase cycle states, conformational analysis Cell reports High 39240714
2023 CdLS-associated SMC1A mutations introduced into the budding yeast SMC1A ortholog cause measurable defects in sister chromatid cohesion, mitotic progression, and DNA damage sensitivity, demonstrating that cohesion defects contribute to CdLS phenotypes. Yeast genetics, sister chromatid cohesion assays, mitotic progression analysis, DNA damage sensitivity assays Genetics Medium 37650609
2025 SMC1A physically interacts with the chromatin organizer SATB1 in double-positive thymocytes; SATB1 deletion results in aberrant SMC1A binding and reduced chromatin contacts at co-occupied sites, placing SMC1A downstream of SATB1 in regulating chromatin looping and transcription during T cell development. Co-IP (SATB1-SMC1A interaction), ChIP-seq (SMC1A binding), chromatin conformation analysis, genetic deletion model bioRxivpreprint Medium bio_10.1101_2025.06.19.657327
2025 In SLE monocytes, SMC1A redistributes to active enhancers of immune/inflammatory genes to drive their transcription, and demonstrates female-biased expression in lupus monocytes; enhanced SMC1A binding at IL6 and other cytokine gene enhancers correlates with increased cytokine secretion, revealing SMC1A as a chromatin modifier that shapes inflammatory gene programs. ChIP-seq (SMC1A binding), ATAC-seq (chromatin accessibility), transcriptome analysis, cytokine secretion assays Nature communications Medium 41285778
2023 MALAT1 lncRNA regulates alternative splicing of SMC1A (producing isoforms SMC1A001, SMC1A201, SMC1A005, SMC1A003) through interaction with the splicing factor SRSF2; tRF-20-M0NK5Y93 regulates MALAT1 expression by binding to specific sites on MALAT1, forming a tRF/MALAT1/SRSF2/SMC1A splicing axis controlling colon cancer metastasis. Transcriptome sequencing, RIP (MALAT1-SRSF2 interaction), tRF-MALAT1 binding assays, isoform detection, functional metastasis assays American journal of cancer research Medium 37034215
2024 SMC1A knockdown affects colorectal cancer cell proliferation and anchorage-independent growth; combined SMC1A silencing with bevacizumab leads to atypical mitotic figures and gene expression dysregulation via pathways including transcription regulation and cellular proliferation. shRNA knockdown, in vitro proliferation assays, in vivo xenograft model, RNA-seq gene expression profiling Journal of experimental & clinical cancer research : CR Medium 38365745
2026 SMC1A nonsense variants cause the most profound transcriptomic alterations in DEE85 compared to CdLS missense variants, and ataluren treatment restores SMC1A protein levels, partially corrects gene expression abnormalities, and reduces genomic instability in cells with nonsense variants, demonstrating that mutation-type-specific molecular mechanisms underlie distinct clinical phenotypes. Transcriptomic profiling of patient-derived cell lines, ataluren readthrough treatment, protein expression assays, genomic instability measurement Epilepsia Medium 41770211

Source papers

Stage 0 corpus · 75 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 415 17273969
2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nature genetics 360 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 80 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 59 19842212
2009 SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Human mutation 46 19701948
2021 SMC1A regulated by KIAA1429 in m6A-independent manner promotes EMT progress in breast cancer. Molecular therapy. Nucleic acids 45 34976433
2020 Knockdown of lncRNA TUG1 Enhances Radiosensitivity of Prostate Cancer via the TUG1/miR-139-5p/SMC1A Axis. OncoTargets and therapy 44 32256083
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 44 28166369
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
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
2021 The deacetylation-phosphorylation regulation of SIRT2-SMC1A axis as a mechanism of antimitotic catastrophe in early tumorigenesis. Science advances 37 33627431
2020 The multiple facets of the SMC1A gene. Gene 37 32222533
2016 SMC1A recruits tumor-associated-fibroblasts (TAFs) and promotes colorectal cancer metastasis. Cancer letters 34 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
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
2016 SMC1A promotes growth and migration of prostate cancer in vitro and in vivo. International journal of oncology 25 27667360
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
2018 Phosphorylation of SMC1A promotes hepatocellular carcinoma cell proliferation and migration. International journal of biological sciences 19 29988990
2011 SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. American journal of medical genetics. Part A 18 22140011
2023 PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A. Cancer medicine 17 37212524
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 15 37107610
2015 Downregulation of SMC1A inhibits growth and increases apoptosis and chemosensitivity of colorectal cancer cells. The Journal of international medical research 15 26637483
2017 MiR-9 Promotes Apoptosis Via Suppressing SMC1A Expression in GBM Cell Lines. Current chemical genomics and translational medicine 13 28868238
2023 SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT. BMC gastroenterology 12 37537540
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 Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. Journal of child neurology 11 35238682
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
2022 Scaling-down biopharmaceutical production processes via a single multi-compartment bioreactor (SMCB). Engineering in life sciences 10 36619888
2019 A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. Epilepsy research 10 31185419
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 10 18798846
2024 The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer. Journal of experimental & clinical cancer research : CR 9 38365745
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
2019 Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation. Cancer genetics 8 31425923
2023 Effects of SMC1A on immune microenvironment and cancer stem cells in colon adenocarcinoma. Cancer medicine 7 37096492
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 SMC1A epilepsy syndrome: clinical data from a large international cohort. American journal of medical genetics. Part A 6 38421079
2024 AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer. The journal of gene medicine 5 38282144
2024 The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains. Cell reports 5 39240714
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
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 3 39831465
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 Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas. Genes, chromosomes & cancer 1 39149945
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
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 Hsa_circ_0000092 up-regulates IL24 by SMC1A to induce macrophages M2 polarization. Heliyon 0 39296099
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