Identity
HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
CDLS2,DEE85,DXS423E,EIEE85,SB1.8,SMC1,SMC1L1,SMC1alpha,SMCB
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8243
MIM: 300040
HGNC: 11111
Ensembl: ENSG00000072501
Variants:
dbSNP: 8243
ClinVar: 8243
TCGA: ENSG00000072501
COSMIC: SMC1A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38282144 | 2024 | AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer. | 0 |
| 38282144 | 2024 | AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer. | 0 |
| 37107610 | 2023 | Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy. | 4 |
| 37212524 | 2023 | PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A. | 5 |
| 37537540 | 2023 | SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT. | 2 |
| 37107610 | 2023 | Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy. | 4 |
| 37212524 | 2023 | PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A. | 5 |
| 37537540 | 2023 | SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT. | 2 |
| 35238682 | 2022 | Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. | 2 |
| 35238682 | 2022 | Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. | 2 |
| 33485391 | 2021 | Cohesin promotes HSV-1 lytic transcription by facilitating the binding of RNA Pol II on viral genes. | 5 |
| 33485391 | 2021 | Cohesin promotes HSV-1 lytic transcription by facilitating the binding of RNA Pol II on viral genes. | 5 |
| 32496272 | 2020 | Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature. | 0 |
| 32532882 | 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. | 3 |
| 32496272 | 2020 | Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature. | 0 |
Citation
Dessen P
SMC1A (structural maintenance of chromosomes 1A)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42339/smc1a
