PACS1 (phosphofurin acidic cluster sorting protein 1)

2014-06-01   Dessen P  

Identity

HGNC
PACS1
LOCATION
11q13.1
LOCUSID
55690
ALIAS
MRD17,SHMS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
362105492023Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.3
371414372023Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?0
362105492023Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.3
371414372023Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?0
331660312021Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.9
333691222021Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.7
340683962021Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.9
331660312021Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.9
333691222021Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.7
340683962021Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.9
319884532020The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability.12
330286352020Dysregulation 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
319884532020The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability.12
330286352020Dysregulation 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
280603822017Epigenetic 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)