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: 55690
MIM: 607492
HGNC: 30032
Ensembl: ENSG00000175115
Variants:
dbSNP: 55690
ClinVar: 55690
TCGA: ENSG00000175115
COSMIC: PACS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36210549 | 2023 | Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients. | 3 |
| 37141437 | 2023 | Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability? | 0 |
| 36210549 | 2023 | Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients. | 3 |
| 37141437 | 2023 | Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability? | 0 |
| 33166031 | 2021 | Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature. | 9 |
| 33369122 | 2021 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. | 7 |
| 34068396 | 2021 | Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. | 9 |
| 33166031 | 2021 | Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature. | 9 |
| 33369122 | 2021 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. | 7 |
| 34068396 | 2021 | Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. | 9 |
| 31988453 | 2020 | The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability. | 12 |
| 33028635 | 2020 | Dysregulation of hsa-miR-34a and hsa-miR-449a leads to overexpression of PACS-1 and loss of DNA damage response (DDR) in cervical cancer. | 16 |
| 31988453 | 2020 | The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability. | 12 |
| 33028635 | 2020 | Dysregulation of hsa-miR-34a and hsa-miR-449a leads to overexpression of PACS-1 and loss of DNA damage response (DDR) in cervical cancer. | 16 |
| 28060382 | 2017 | Epigenetic control of mitochondrial cell death through PACS1-mediated regulation of BAX/BAK oligomerization. | 24 |
Citation
Dessen P
PACS1 (phosphofurin acidic cluster sorting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/54021/pacs1-(phosphofurin-acidic-cluster-sorting-protein-1)
