Identity
HGNC
LOCATION
1p21.2
LOCUSID
ALIAS
MCPH14,SAS-6,SAS6
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: 163786
MIM: 609321
HGNC: 25403
Ensembl: ENSG00000156876
Variants:
dbSNP: 163786
ClinVar: 163786
TCGA: ENSG00000156876
COSMIC: SASS6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000156876 | ENST00000287482 | Q6UVJ0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36739862 | 2023 | Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations. | 0 |
| 36739862 | 2023 | Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations. | 0 |
| 32671379 | 2021 | SASS6 promotes proliferation of esophageal squamous carcinoma cells by inhibiting the p53 signaling pathway. | 5 |
| 33907854 | 2021 | Knockdown of SASS6 reduces growth of MDA‑MB‑231 triple‑negative breast cancer cells through arrest of the cell cycle at the G2/M phase. | 3 |
| 34260288 | 2021 | E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6. | 2 |
| 32671379 | 2021 | SASS6 promotes proliferation of esophageal squamous carcinoma cells by inhibiting the p53 signaling pathway. | 5 |
| 33907854 | 2021 | Knockdown of SASS6 reduces growth of MDA‑MB‑231 triple‑negative breast cancer cells through arrest of the cell cycle at the G2/M phase. | 3 |
| 34260288 | 2021 | E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6. | 2 |
| 32086376 | 2020 | The ubiquitin ligase FBXW7 targets the centriolar assembly protein HsSAS-6 for degradation and thereby regulates centriole duplication. | 3 |
| 32442461 | 2020 | SAS-6 Association with γ-Tubulin Ring Complex Is Required for Centriole Duplication in Human Cells. | 5 |
| 32086376 | 2020 | The ubiquitin ligase FBXW7 targets the centriolar assembly protein HsSAS-6 for degradation and thereby regulates centriole duplication. | 3 |
| 32442461 | 2020 | SAS-6 Association with γ-Tubulin Ring Complex Is Required for Centriole Duplication in Human Cells. | 5 |
| 30639237 | 2019 | Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly. | 4 |
| 30787112 | 2019 | Centriole assembly at a glance. | 46 |
| 31722219 | 2019 | CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation. | 7 |
Citation
Dessen P
SASS6 (SAS-6 centriolar assembly protein)
Atlas Genet Cytogenet Oncol Haematol. 2016-04-01
Online version: http://atlasgeneticsoncology.org/gene/55711/sass6-(sas-6-centriolar-assembly-protein)
