PACS1 (phosphofurin acidic cluster sorting protein 1)

2014-06-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
MRD17,SHMS
FUSION GENES

Other Information

Locus ID:

NCBI: 55690
MIM: 607492
HGNC: 30032
Ensembl: ENSG00000175115

Variants:

dbSNP: 55690
ClinVar: 55690
TCGA: ENSG00000175115
COSMIC: PACS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175115ENST00000320580Q6VY07
ENSG00000175115ENST00000320580A0A024R5H6
ENSG00000175115ENST00000524784H0YE62
ENSG00000175115ENST00000524815E9PSG7
ENSG00000175115ENST00000527380E9PPK2
ENSG00000175115ENST00000528935E9PNZ9
ENSG00000175115ENST00000529677H0YCU5
ENSG00000175115ENST00000529757B4DF77
ENSG00000175115ENST00000531298H0YF56
ENSG00000175115ENST00000531597E9PSE1
ENSG00000175115ENST00000533756E9PNG7

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesisREACTOMER-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adaptersREACTOMER-HSA-164938
Nef mediated downregulation of MHC class I complex cell surface expressionREACTOMER-HSA-164940

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
125268112002HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway.117
235636092013Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.107
156925632005Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
163085642005Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.31
224964202012An interdomain binding site on HIV-1 Nef interacts with PACS-1 and PACS-2 on endosomes to down-regulate MHC-I.31
169773092006A PACS-1, GGA3 and CK2 complex regulates CI-MPR trafficking.29
231592492012Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.28
280603822017Epigenetic control of mitochondrial cell death through PACS1-mediated regulation of BAX/BAK oligomerization.17
197103072009PACS-1 mediates phosphorylation-dependent ciliary trafficking of the cyclic-nucleotide-gated channel in olfactory sensory neurons.13

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