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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

Aliases
Phosphofurin Acidic Cluster Sorting Protein 11 2
PACS-12 3
MRD172
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cystic kidney, and intellectual disability, and among its related super-pathways are Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters and HIV Infection. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PACS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Golgi apparatus, trans-Golgi network (By similarity). Note=Localizes in the perinuclear
region, probably the TGN (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6VY07

  • PACS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PACS1 Protein Expression
    REFSEQ proteins: NP_060496.2  
    ENSEMBL proteins: 
     ENSP00000316454   ENSP00000437150   ENSP00000432639   ENSP00000437274   ENSP00000435037  
     ENSP00000432858   ENSP00000437052   ENSP00000433991   ENSP00000434012   ENSP00000432365  
    Reactome Protein details: Q6VY07
    Human Recombinant Protein Products for PACS1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PACS1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    PACS1 for ontologies           About GeneDecksing



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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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PACS1 
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    SwitchGear 3'UTR luciferase reporter plasmidPACS1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 adapters0.75
    Nef mediated downregulation of MHC class I complex cell surface expression0.48
    The role of Nef in HIV-1 replication and disease pathogenesis0.75
    2HIV Life Cycle
    HIV Infection0.61
    Host Interactions of HIV factors0.60
    3Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for PACS1 (see all 6)
        HIV Infection
    The role of Nef in HIV-1 replication and disease pathogenesis
    Nef mediated downregulation of MHC class I complex cell surface expression
    Disease
    Host Interactions of HIV factors



    PACS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PACS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/28 Interacting proteins for PACS1 (Q6VY072, 3 ENSP000003164544) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232960P678702, 3, ENSP000003955464MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 STRING: ENSP00000395546
    CSNK2BP678702, 3MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    ENSG00000206406P678702, 3MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    ENSG00000224398P678702, 3MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    ENSG00000224774P678702, 3MINT-3372585 MINT-3372614 MINT-3372643 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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 IEA--
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about PACS1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/20 QIAGEN miScript miRNA 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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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PACS1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PACS1
      QIAGEN 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 

    24/367 AceView cDNA sequences (see all 367):

    CR617326 BM695954 BI335899 BU180578 BG253265 BU956502 BU538515 BM747618 
    BU685782 BQ772654 BF371511 AI590037 BQ670055 BC009936 BU729199 CN483113 
    BC052577 BM927762 AL120682 AI052087 BQ932365 AL525662 BU856845 BM993302 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/31 selected tissues (see all 31) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See PACS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PACS1

    SOURCE GeneReport for Unigene cluster: Hs.644326
        SABiosciences Custom PCR Arrays for PACS1
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PACS1 gene from 7/15 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 89.91(n)1
    97.71(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 64.53(n)
    58.74(a)
      421254  XM_419325.3  XP_419325.3 
    lizard
    (Anolis carolinensis)
    Reptilia PACS16
    --
    --
    79(a)
    56(a)
    1 ↔ 1
    possible ortholog
    GL343519.1(136762-194116)
    2(144245369-144492396)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA986917.12   -- 75.69(n)    CA986917.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pacs1a1 phosphofurin acidic cluster sorting protein 1a 67.89(n)
    69.62(a)
      569034  NM_001098748.1  NP_001092218.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta KrT95D6
    Krueppel target at 95D
    22(a)
    1 → many
    3R(19824162-19857532)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-2321 Protein TAG-232 41.72(n)
    31.98(a)
      179304  NM_072986.4  NP_505387.1 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3107 SNPs in PACS1 are shown (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) 10/17 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 607492    OMIM disorders: --

    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 adaptative 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

  • 5 diseases for PACS1:    About MalaCards
    cystic kidney    intellectual disability    cervical cancer    cervicitis
    neuronitis


    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)
    About This Section

    PubMed articles for PACS1 gene, integrated from 9 sources (see all 46):
    (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. (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. (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. (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. (2003)
    5. Recurrent de novo mutations in PACS1 cause defective c ranial-neural-crest migration and define a recognizable intellectual-disability syndrome. (PubMed id 23159249)1, 2 Schuurs-Hoeijmakers J.H....Brunner H.G. (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. (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (2001)

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

      Query String
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    OMIM
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      (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)
    About This Section
    Entrez Gene: 55690 HGNC: 30032 AceView: PACS1 Ensembl:ENSG00000175115 euGenes: HUgn55690
    ECgene: PACS1 H-InvDB: PACS1

    (According to HUGE)
    About This Section
    HUGE: KIAA1175

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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