InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PACS1

Summary

InnateDB Protein

IDBP-58436.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PACS1

Protein Name

phosphofurin acidic cluster sorting protein 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000316454

InnateDB Gene

IDBG-58434 (PACS1)

Protein Structure

UniProt Annotation

Function

Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin- coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN. {ECO:0000269PubMed:11331585}.

Subcellular Localization

Golgi apparatus, trans-Golgi network {ECO:0000250}. Note=Localizes in the perinuclear region, probably the TGN. {ECO:0000250}.

Disease Associations

Mental retardation, autosomal dominant 17 (MRD17) [MIM:615009]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD17 patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities. {ECO:0000269PubMed:23159249}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	16 [view]
Protein-Protein	15 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0044325	ion channel binding

Biological Process

GO:0000042	protein targeting to Golgi
GO:0016032	viral process
GO:0050690	regulation of defense response to virus by virus
GO:0072661	protein targeting to plasma membrane