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Aliases for PACS1 Gene

Aliases for PACS1 Gene

  • Phosphofurin Acidic Cluster Sorting Protein 1 2 3
  • PACS-1 3 4
  • MRD17 3 6
  • Cytosolic Sorting Protein PACS-1 3
  • KIAA1175 4

External Ids for PACS1 Gene

Previous GeneCards Identifiers for PACS1 Gene

  • GC11P067519
  • GC11P065613
  • GC11P065595
  • GC11P065837
  • GC11P062163

Summaries for PACS1 Gene

Entrez Gene Summary for PACS1 Gene

  • 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]

GeneCards Summary for PACS1 Gene

PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1) is a Protein Coding gene. Diseases associated with PACS1 include mental retardation, autosomal dominant 17 and intellectual disability - craniofacial dysmorphism - cryptorchidism. Among its related pathways are Disease and HIV Life Cycle. GO annotations related to this gene include ion channel binding.

UniProtKB/Swiss-Prot for PACS1 Gene

  • 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.

Gene Wiki entry for PACS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PACS1 Gene

Genomics for PACS1 Gene

Regulatory Elements for PACS1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PACS1 Gene

Start:
66,070,276 bp from pter
End:
66,244,747 bp from pter
Size:
174,472 bases
Orientation:
Plus strand

Genomic View for PACS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PACS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PACS1 Gene

Proteins for PACS1 Gene

  • Protein details for PACS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6VY07-PACS1_HUMAN
    Recommended name:
    Phosphofurin acidic cluster sorting protein 1
    Protein Accession:
    Q6VY07
    Secondary Accessions:
    • Q6PJY6
    • Q6PKB6
    • Q7Z590
    • Q7Z5W4
    • Q8N8K6
    • Q96MW0
    • Q9NW92
    • Q9ULP5

    Protein attributes for PACS1 Gene

    Size:
    963 amino acids
    Molecular mass:
    104898 Da
    Quaternary structure:
    • Interacts with HIV-1 Nef. Associates with AP-1 and AP-3 but not with AP-2 complexes. Interacts with NPHP1; the interaction is dependent of NPHP1 phosphorylation by CK2. Interacts with Epstein_barr virus protein BBLF1.
    SequenceCaution:
    • Sequence=AAH09936.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71164.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PACS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PACS1 Gene

Proteomics data for PACS1 Gene at MOPED

Post-translational modifications for PACS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PACS1 Gene

No data available for DME Specific Peptides for PACS1 Gene

Domains for PACS1 Gene

Protein Domains for PACS1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6VY07

UniProtKB/Swiss-Prot:

PACS1_HUMAN :
  • Q6VY07
Family:
  • Belongs to the PACS family.
genes like me logo Genes that share domains with PACS1: view

No data available for Gene Families for PACS1 Gene

Function for PACS1 Gene

Molecular function for PACS1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PACS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10707087
GO:0044325 ion channel binding IPI 15692563
genes like me logo Genes that share ontologies with PACS1: view

Animal Model Products

CRISPR Products

miRNA for PACS1 Gene

miRTarBase miRNAs that target PACS1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for PACS1 Gene

Localization for PACS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PACS1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PACS1 Gene COMPARTMENTS Subcellular localization image for PACS1 gene
Compartment Confidence
cytosol 4
nucleus 3
endosome 2
golgi apparatus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for PACS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030137 COPI-coated vesicle IEA --
genes like me logo Genes that share ontologies with PACS1: view

Pathways for PACS1 Gene

genes like me logo Genes that share pathways with PACS1: view

Gene Ontology (GO) - Biological Process for PACS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000042 protein targeting to Golgi IEA --
GO:0016032 viral process TAS --
GO:0050690 regulation of defense response to virus by virus TAS --
GO:0072661 protein targeting to plasma membrane IMP 15692563
genes like me logo Genes that share ontologies with PACS1: view

Compounds for PACS1 Gene

(1) HMDB Compounds for PACS1 Gene

Compound Synonyms Cas Number PubMed IDs
Mannose 6-phosphate
  • D-Mannose 6-phosphate
3672-15-9
genes like me logo Genes that share compounds with PACS1: view

Transcripts for PACS1 Gene

Unigene Clusters for PACS1 Gene

Phosphofurin acidic cluster sorting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PACS1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PACS1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PACS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a ·
SP1: - - - -
SP2:
SP3:
SP4: -
SP5:
SP6:

ExUns: 22b · 22c · 22d ^ 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -

Relevant External Links for PACS1 Gene

GeneLoc Exon Structure for
PACS1
ECgene alternative splicing isoforms for
PACS1

Expression for PACS1 Gene

mRNA expression in normal human tissues for PACS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PACS1 Gene

This gene is overexpressed in Whole Blood (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PACS1 Gene

SOURCE GeneReport for Unigene cluster for PACS1 Gene Hs.644326

genes like me logo Genes that share expressions with PACS1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PACS1 Gene

Orthologs for PACS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PACS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PACS1 35
  • 99.83 (n)
  • 99.9 (a)
PACS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PACS1 35
  • 91.72 (n)
  • 96.78 (a)
PACS1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PACS1 35
  • 92.34 (n)
  • 97.86 (a)
PACS1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pacs1 35
  • 89.84 (n)
  • 98.25 (a)
Pacs1 16
Pacs1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PACS1 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PACS1 36
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pacs1 35
  • 89.18 (n)
  • 98.14 (a)
chicken
(Gallus gallus)
Aves PACS1 35
  • 66.47 (n)
  • 62.35 (a)
PACS1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PACS1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490541 35
  • 64.48 (n)
  • 67.8 (a)
Str.5177 35
zebrafish
(Danio rerio)
Actinopterygii PACS1 (1 of 6) 36
  • 67 (a)
OneToMany
PACS1 (3 of 6) 36
  • 57 (a)
OneToMany
PACS1 (4 of 6) 36
  • 48 (a)
OneToMany
PACS1 (5 of 6) 36
  • 60 (a)
OneToMany
PACS1 (6 of 6) 36
  • 67 (a)
OneToMany
pacs1a 35
  • 67.91 (n)
  • 69.54 (a)
pacs1a 36
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta KrT95D 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-232 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for PACS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PACS1 Gene

ENSEMBL:
Gene Tree for PACS1 (if available)
TreeFam:
Gene Tree for PACS1 (if available)

Paralogs for PACS1 Gene

genes like me logo Genes that share paralogs with PACS1: view

No data available for Paralogs for PACS1 Gene

Variants for PACS1 Gene

Sequence variations from dbSNP and Humsavar for PACS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs471203 -- 66,107,290(-) GAAAA(C/T)GAACC intron-variant
rs471414 -- 66,206,600(-) CACCA(C/G)CCAAG intron-variant
rs471484 -- 66,187,673(+) atggt(A/G)tgtgc intron-variant
rs471709 -- 66,141,389(-) ggggt(A/G)agcaa intron-variant
rs472518 -- 66,084,431(-) gtgac(C/T)tccca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PACS1 Gene

Variant ID Type Subtype PubMed ID
dgv1186n71 CNV Loss 21882294
esv2661166 CNV Deletion 23128226
esv2668639 CNV Deletion 23128226
nsv362 CNV Loss 18451855
nsv517090 CNV Loss 19592680
nsv818843 CNV Loss 17921354
nsv498760 CNV Loss 21111241
dgv220e199 CNV Deletion 23128226
esv25273 CNV Loss 19812545
nsv514631 CNV Loss 21397061
esv2660282 CNV Deletion 23128226
esv273091 CNV Insertion 20981092
esv270067 CNV Insertion 20981092
esv2744636 CNV Deletion 23290073
esv268061 CNV Insertion 20981092
esv1000442 OTHER Inversion 20482838
dgv1187n71 CNV Loss 21882294

Relevant External Links for PACS1 Gene

HapMap Linkage Disequilibrium report
PACS1
Human Gene Mutation Database (HGMD)
PACS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PACS1 Gene

Disorders for PACS1 Gene

(1) OMIM Diseases for PACS1 Gene (607492)

UniProtKB/Swiss-Prot

PACS1_HUMAN
  • 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:0000269 PubMed:23159249}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PACS1

Genetic Association Database (GAD)
PACS1
Human Genome Epidemiology (HuGE) Navigator
PACS1
genes like me logo Genes that share disorders with PACS1: view

Publications for PACS1 Gene

  1. HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes. (PMID: 10707087) Piguet V. … Trono D. (Nat. Cell Biol. 2000) 3 4 23
  2. Signaling but not trafficking function of HIV-1 protein Nef is essential for Nef-induced defects in human intrathymic T-cell development. (PMID: 12855553) Stove V. … Verhasselt B. (Blood 2003) 2 3 23
  3. AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1. (PMID: 14608369) Hinners I. … Tooze S.A. (EMBO Rep. 2003) 2 3 23
  4. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. (PMID: 16308564) Schermer B. … Benzing T. (EMBO J. 2005) 3 4 23
  5. HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway. (PMID: 12526811) Blagoveshchenskaya A.D. … Thomas G. (Cell 2002) 3 4

Products for PACS1 Gene

Sources for PACS1 Gene

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