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PACS1 Gene

protein-coding   GIFtS: 60
GCID: GC11P065837

Phosphofurin Acidic Cluster Sorting Protein 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphofurin Acidic Cluster Sorting Protein 11 2
PACS-12 3
MRD172 5
Cytosolic Sorting Protein PACS-12
KIAA11753

External Ids:    HGNC: 300321   Entrez Gene: 556902   Ensembl: ENSG000001751157   OMIM: 6074925   UniProtKB: Q6VY073   

Export aliases for PACS1 gene to outside databases

Previous GC identifers: GC11P067519 GC11P066088 GC11P065613 GC11P065595 GC11P062163


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hiv-1. GO annotations related to this gene include ion channel binding. An important paralog of this gene is PACS2.

UniProtKB/Swiss-Prot: PACS1_HUMAN, Q6VY07
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 Wiki entry for PACS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PACS1 gene promoter:
         Max1   RFX1   AP-1   RREB-1   p300   ATF-2   Evi-1   FOXO4   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPACS1 promoter sequence
   Search Chromatin IP Primers for PACS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PACS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.1-q13.2   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13.1-q13.2

PACS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PACS1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P065837:  view genomic region     (about GC identifiers)

Start:
65,837,824 bp from pter      End:
66,012,218 bp from pter
Size:
174,395 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PACS1_HUMAN, Q6VY07 (See protein sequence)
Recommended Name: Phosphofurin acidic cluster sorting protein 1  
Size: 963 amino acids; 104898 Da
Subunit: 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
Sequence caution: Sequence=AAH09936.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB71164.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6PJY6 Q6PKB6 Q7Z590 Q7Z5W4 Q8N8K6 Q96MW0 Q9NW92 Q9ULP5
Alternative splicing: 2 isoforms:  Q6VY07-1   Q6VY07-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PACS1: NX_Q6VY07

Explore proteomics data for PACS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PACS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060496.2  
    ENSEMBL proteins: 
     ENSP00000316454   ENSP00000437150   ENSP00000432639   ENSP00000437274   ENSP00000435037  
     ENSP00000432858   ENSP00000437052   ENSP00000433991   ENSP00000434012   ENSP00000432365  
    Reactome Protein details: Q6VY07

    PACS1 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for PACS1

    PACS1 Assay Products:

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    Cloud-Clone Corp. CLIAs for PACS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019381 Phosphofurin_acidic_CS-1

    Graphical View of Domain Structure for InterPro Entry Q6VY07

    ProtoNet protein and cluster: Q6VY07

    UniProtKB/Swiss-Prot: PACS1_HUMAN, Q6VY07
    Similarity: Belongs to the PACS family


    PACS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PACS1_HUMAN, Q6VY07
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10707087
    GO:0044325ion channel binding IPI15692563
         
    PACS1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PACS1
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    miRNA
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    miRTarBase miRNAs that target PACS1:
    hsa-mir-324-5p (MIRT043109), hsa-mir-320a (MIRT044795)

    Block miRNA regulation of human, mouse, rat PACS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACS1 (see all 20):
    hsa-miR-596 hsa-miR-1287 hsa-miR-485-5p hsa-miR-148b* hsa-miR-765 hsa-miR-449a hsa-miR-3116 hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidPACS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PACS1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PACS1 (NM_018026)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PACS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PACS1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PACS1_HUMAN, Q6VY07: Golgi apparatus, trans-Golgi network (By similarity). Note=Localizes in the perinuclear
    region, probably the TGN (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    endosome2
    golgi apparatus2
    plasma membrane2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030137COPI-coated vesicle IEA--

    PACS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PACS1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
    Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters0.76
    Nef mediated downregulation of MHC class I complex cell surface expression0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    2HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    3Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PACS1
        Nef mediated downregulation of MHC class I complex cell surface expression



    PACS1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PACS1
    Interactions:

        GeneGlobe Interaction Network for PACS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for PACS1 (Q6VY071, 2, 3 ENSP000003164544) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232960P678701, 2, 3, ENSP000003955464EBI-2555014,EBI-348169 MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 STRING: ENSP00000395546
    CSNK2BP678701, 2, 3EBI-2555014,EBI-348169 MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    ENSG00000206406P678701, 2, 3EBI-2555014,EBI-348169 MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    ENSG00000224398P678701, 2, 3EBI-2555014,EBI-348169 MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    ENSG00000224774P678701, 2, 3EBI-2555014,EBI-348169 MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000042protein targeting to Golgi IEA--
    GO:0016032viral process TAS--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0050690regulation of defense response to virus by virus TAS--
    GO:0072661protein targeting to plasma membrane IMP15692563

    PACS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PACS1

    1 HMDB Compound for PACS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Mannose 6-phosphateD-Mannose 6-phosphate (see all 10)3672-15-9--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PACS1 gene: 
    NM_018026.3  

    Unigene Cluster for PACS1:

    Phosphofurin acidic cluster sorting protein 1
    Hs.644326  [show with all ESTs]
    Unigene Representative Sequence: NM_018026
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527224(uc001ogz.1) ENST00000320580(uc001oha.2 uc010rou.2)
    ENST00000533756 ENST00000527380 ENST00000531298 ENST00000524784 ENST00000533811
    ENST00000534273 ENST00000529757 ENST00000528935 ENST00000529795 ENST00000525798
    ENST00000524815 ENST00000531597 ENST00000529677
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat PACS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACS1 (see all 20):
    hsa-miR-596 hsa-miR-1287 hsa-miR-485-5p hsa-miR-148b* hsa-miR-765 hsa-miR-449a hsa-miR-3116 hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidPACS1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PACS1
    Predesigned siRNA for gene silencing in human, mouse, rat PACS1
    Clone
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    OriGene clones in human, mouse for PACS1 (see all 6)
    OriGene ORF clones in mouse, rat for PACS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PACS1 (NM_018026)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PACS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PACS1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PACS1
      QuantiTect SYBR Green Assays in human, mouse, rat PACS1
      QuantiFast Probe-based Assays in human, mouse, rat PACS1

    Additional mRNA sequence: 

    AB033001.1 AK001071.1 AK056361.1 AK096644.1 AK293966.1 AL137271.1 AY320283.1 BC003173.1 
    BC009936.1 BC010096.1 BC042909.1 BC052577.1 BC055288.1 

    22 DOTS entries:

    DT.100806911  DT.317672  DT.95364091  DT.100650493  DT.100816207  DT.120693861  DT.100697231  DT.100816203 
    DT.100816205  DT.439237  DT.75170033  DT.91980868  DT.100816200  DT.100816202  DT.101971580  DT.120693960 
    DT.91700233  DT.91979774  DT.95206307  DT.100816199  DT.91821416  DT.95364094 

    Selected AceView cDNA sequences (see all 367):

    AB033001 BU857096 BC055288 BU430211 AI298911 CO245308 AW732359 AI587643 
    AK056361 CR608717 CA425689 BM694288 Z40056 CD674667 BM931039 AL712295 
    AK001071 BM797709 BU956895 Z44004 BU538740 AA381307 CA438305 CR617326 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PACS1 (see all 6)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for PACS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PACS1 expression in normal human tissues (normalized intensities)      PACS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTCTGTGG
    PACS1 Expression
    About this image


    PACS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    PACS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PACS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644326
        Custom PCR Arrays for PACS1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PACS1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pacs11 , 5 phosphofurin acidic cluster sorting protein 11, 5 89.84(n)1
    98.25(a)1
      19 (4.25 cM)5
    1079751  NM_153129.21  NP_694769.21 
     51336885 
    chicken
    (Gallus gallus)
    Aves PACS11 phosphofurin acidic cluster sorting protein 1 66.47(n)
    62.35(a)
      421254  XM_004940153.1  XP_004940210.1 
    lizard
    (Anolis carolinensis)
    Reptilia PACS16
    phosphofurin acidic cluster sorting protein 1
    78(a)
    1 ↔ 1
    GL343519.1(136762-194116)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA986917.12   -- 75.69(n)    CA986917.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pacs1a1 phosphofurin acidic cluster sorting protein 1a 67.91(n)
    69.54(a)
      569034  NM_001098748.1  NP_001092218.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta KrT95D6
    Krueppel target at 95D
    25(a)
    1 → many
    3R(19824162-19857532)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-2326
    Protein TAG-232, isoform a
    24(a)
    1 → many
    V(9213754-9217242) WBGene00044077


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PACS1 gene
    PACS22  
    1 SIMAP similar gene for PACS1 using alignment to 11 protein entries:     PACS1_HUMAN (see all proteins):
    PACS2

    PACS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PACS1 (see all 3107)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695344
    Mental retardation, autosomal dominant 17 (MRD17)4--see VAR_0695342 R W mis40--------
    rs1392267191,2
    C--65836899(+) GACTAC/GAGCAG 1 -- us2k10--------
    rs1876902821,2
    C--65836925(+) CCCATA/GGGCAT 1 -- us2k10--------
    rs22773031,2
    C--65837056(-) ATCTGG/AATCAT 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs1511859651,2
    C--65837138(+) CTAAA-/AGAGGC 1 -- us2k10--------
    rs22543881,2
    C,F,A--65837599(+) GCGCGT/CGCTGG 1 -- us2k14Minor allele frequency- C:0.23NA 126
    rs23762311,2
    C--65837679(+) ccggcC/Gcggcc 1 -- us2k10--------
    rs1498763071,2
    --65837928(+) CGCCTC/GGGCCT 1 -- ut510--------
    rs753526461,2
    C--65838059(+) CCGCCA/GCAGCA 2 P syn10--------
    rs118236181,2
    C,F,H--65838530(+) CTTCTG/TTCCTC 1 -- int12Minor allele frequency- T:0.05WA 120

    HapMap Linkage Disequilibrium report for PACS1 (65837824 - 66012218 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PACS1 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660282CNV Deletion23128226
    esv2744636CNV Deletion23290073
    esv2661166CNV Deletion23128226
    dgv220e199CNV Deletion23128226
    esv2668639CNV Deletion23128226
    esv273091CNV Insertion20981092
    esv268061CNV Insertion20981092
    esv270067CNV Insertion20981092
    nsv362CNV Loss18451855
    esv25273CNV Loss19812545

    Human Gene Mutation Database (HGMD): PACS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PACS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PACS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607492   
    OMIM disorders: 615009  
    UniProtKB/Swiss-Prot: PACS1_HUMAN, Q6VY07
  • 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

  • 17 diseases for PACS1:    About MalaCards
    mental retardation, autosomal dominant 17    hiv-1    cystic kidney    intellectual disability
    cervical cancer    bipolar disorder    mental retardation    cervicitis
    tonsillitis    obesity    thyroiditis    multiple myeloma
    myeloma    cerebritis    neuronitis    endotheliitis
    prostatitis


    PACS1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PACS1
    Human Genome Epidemiology (HuGE) Navigator: PACS1 (1 document)

    Export disorders for PACS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PACS1 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with PACS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. (PubMed id 16308564)1, 2, 9 Schermer B.... Benzing T. (EMBO J. 2005)
    2. AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1. (PubMed id 14608369)1, 3, 9 Hinners I....Tooze S.A. (EMBO Rep. 2003)
    3. HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes. (PubMed id 10707087)1, 2, 9 Piguet V....Trono D. (Nat. Cell Biol. 2000)
    4. Signaling but not trafficking function of HIV-1 protein Nef is essential for Nef-induced defects in human intrathymic T-cell development. (PubMed id 12855553)1, 3, 9 Stove V....Verhasselt B. (Blood 2003)
    5. Recurrent de novo mutations in PACS1 cause defective cranial-neural- crest migration and define a recognizable intellectual-disability syndrome. (PubMed id 23159249)1, 2 Schuurs-Hoeijmakers J.H.... Brunner H.G. (Am. J. Hum. Genet. 2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway. (PubMed id 12526811)1, 2 Blagoveshchenskaya A.D....Thomas G. (Cell 2002)
    10. PACS-1 binding to adaptors is required for acidic cluster motif- mediated protein traffic. (PubMed id 11331585)1, 2 Crump C.M....Thomas G. (EMBO J. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55690 HGNC: 30032 AceView: PACS1 Ensembl:ENSG00000175115 euGenes: HUgn55690
    ECgene: PACS1 H-InvDB: PACS1

    (According to HUGE)
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    HUGE: KIAA1175

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PACS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PACS1 gene:
    Search GeneIP for patents involving PACS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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