RBCC Red Blood Cell Collection

PACS1_HUMAN

Source: hRBCD ; ID: IPI00376229
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: PACS1 , KIAA1175
Protein names and data: PACS1_HUMAN , Phosphofurin acidic cluster sorting protein 1; PACS-1 Lenght: 963 a.a.
Mass: 104898 Da
fasta formatted sequence
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.
Disease: ( OMIM: 607492 615009 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Golgi apparatus, trans-Golgi network (By similarity). Note=Localizes in the perinuclear region, probably the TGN (By similarity).

Genetic variants

203 - 203 R -> W (in MRD17). VAR_069534
302 - 302 F -> L (in dbSNP:rs12798852). VAR_053797 12798852

Database cross-references

UniProt: Q6VY07
Ensembl: ENST00000320580
MIM: 607492
MIM: 615009
neXtProt: NX_Q6VY07
Antibodypedia: Q6VY07 (may not find the protein thus also not any antibody)
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