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PACS1 phosphofurin acidic cluster sorting protein 1 [ Homo sapiens (human) ]

Gene ID: 55690, updated on 12-Aug-2018

Summary

Official Symbol
PACS1provided by HGNC
Official Full Name
phosphofurin acidic cluster sorting protein 1provided by HGNC
Primary source
HGNC:HGNC:30032
See related
Ensembl:ENSG00000175115 MIM:607492; Vega:OTTHUMG00000166889
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SHMS; MRD17
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 20.8), lymph node (RPKM 16.2) and 25 other tissues See more
Orthologs

Genomic context

See PACS1 in Genome Data Viewer
Location:
11q13.1-q13.2
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (66070276..66244747)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65837747..66012218)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene galactose-3-O-sulfotransferase 3 Neighboring gene small nucleolar RNA, C/D box 13F Neighboring gene splicing factor 3b subunit 2 Neighboring gene uncharacterized LOC105369354 Neighboring gene uncharacterized LOC105369352 Neighboring gene uncharacterized LOC105369351 Neighboring gene kinesin light chain 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Schuurs-hoeijmakers syndrome
MedGen: C3554343 OMIM: 615009 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Interaction of HIV-1 Nef with PACS-1 occurs in cellular endosomes with markers RAB5 and LAMP-1 PubMed
nef HIV-1 Nef-induced downregulation of MHC-I expression and MHC-I targeting to the trans-Golgi network (TGN) require the binding of Nef (amino acid residues 62-65) to PACS-1, a molecule that controls the TGN localization of the cellular protein furin PubMed
nef Pro78 and helix alphaB (residues 104-119) in HIV-1 Nef are required for the binding between PACS-1 and Nef PubMed
nef Amino-acid residues 181-195 in the FBR region of PACS-1 bind to HIV-1 Nef and alanine-scanning analysis reveals that amino acids N188, K189, and Q195 are required for the binding between PACS-1 and Nef PubMed
nef PACS-1S278A mutant blocks the association of Nef with Hck on cell membrane, while wild-type PACS-1 has no effect PubMed
Rev rev Depletion of PACS1 inhibits HIV-1 Rev activity, leading to reduced HIV-1 p24 expression from the Rev-mediated reporter plasmid PubMed
capsid gag Depletion of PACS1 inhibits HIV-1 Rev activity, leading to reduced HIV-1 p24 expression from the Rev-mediated reporter plasmid PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10209, KIAA1175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein localization to Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
COPI-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphofurin acidic cluster sorting protein 1
Names
PACS-1
cytosolic sorting protein PACS-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033900.1 RefSeqGene

    Range
    5001..179395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018026.3NP_060496.2  phosphofurin acidic cluster sorting protein 1

    See identical proteins and their annotated locations for NP_060496.2

    Status: REVIEWED

    Source sequence(s)
    AK096644, BC010096, BQ772654
    Consensus CDS
    CCDS8129.1
    UniProtKB/Swiss-Prot
    Q6VY07
    UniProtKB/TrEMBL
    A0A024R5H6
    Related
    ENSP00000316454.4, OTTHUMP00000234308, ENST00000320580.8, OTTHUMT00000391690
    Conserved Domains (1) summary
    pfam10254
    Location:548960
    Pacs-1; PACS-1 cytosolic sorting protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    66070276..66244747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545164.2XP_011543466.1  phosphofurin acidic cluster sorting protein 1 isoform X2

    Conserved Domains (1) summary
    pfam10254
    Location:435847
    Pacs-1; PACS-1 cytosolic sorting protein
  2. XM_011545162.1XP_011543464.1  phosphofurin acidic cluster sorting protein 1 isoform X1

    Conserved Domains (1) summary
    pfam10254
    Location:441853
    Pacs-1; PACS-1 cytosolic sorting protein

RNA

  1. XR_001747924.1 RNA Sequence

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