|Institutional Source||Beutler Lab|
|Gene Name||phosphofurin acidic cluster sorting protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4630 (G1)|
|Chromosomal Location||5133688-5273119 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 5156356 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000025786 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025786]|
|Meta Mutation Damage Score||0.9593|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pacs1||
(F):5'- TCAATGAGTGAACTGGCTCCC -3'
(R):5'- CCTATCACTGGGTAAGCTGTTTG -3'
(F):5'- AGTGAACTGGCTCCCCTGTC -3'
(R):5'- GTGCTGTATTCTTTGTTCACAGG -3'