InnateDB Protein
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IDBP-58436.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PACS1
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Protein Name
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phosphofurin acidic cluster sorting protein 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000316454
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InnateDB Gene
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IDBG-58434 (PACS1)
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Protein Structure
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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}.
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Subcellular Localization |
Golgi apparatus, trans-Golgi network {ECO:0000250}. Note=Localizes in the perinuclear region, probably the TGN. {ECO:0000250}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
15
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR019381
Phosphofurin acidic cluster sorting protein 1
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PFAM |
PF10254
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6VY07
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PhosphoSite |
PhosphoSite-Q6VY07
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TrEMBL |
Q9NTH2
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UniProt Splice Variant |
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Entrez Gene |
55690
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UniGene |
Hs.644326
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RefSeq |
NP_060496
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HUGO |
HGNC:30032
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OMIM |
607492
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CCDS |
CCDS8129
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HPRD |
06320
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IMGT |
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EMBL |
AB033001
AK001071
AK056361
AK096644
AK293966
AL137271
AP000759
AP000822
AP006287
AY320283
BC003173
BC009936
BC010096
BC052577
BC055288
CH471076
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GenPept |
AAH03173
AAH09936
AAH10096
AAH52577
AAH55288
AAQ67682
BAA86489
BAA91491
BAB71164
BAC04831
BAG57338
CAB70669
EAW74502
EAW74504
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