Gene: PACS1

Alternate names for this Gene: MRD17|SHMS

Gene Summary: This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1-q13.2

Description of this Gene: phosphofurin acidic cluster sorting protein 1

Type of Gene: protein-coding

rs10896090 in PACS1 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs489337 in PACS1 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs398123009 in PACS1 gene and Dysmorphic features PMID 25522177 2015 Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

PMID 28975623 2018 A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

PMID 26842493 2016 Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 9695949 1998 PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.

PMID 28111752 2017 Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

rs187649293 in PACS1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs398123009 in PACS1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs398123009 in PACS1 gene and Multiple congenital anomalies PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs398123009 in PACS1 gene and Muscle hypotonia PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 25522177 2015 Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

PMID 28975623 2018 A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

PMID 9695949 1998 PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.

PMID 28111752 2017 Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

PMID 26842493 2016 Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

rs564343 in PACS1 gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs801738 in PACS1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.