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PACSIN1 Gene

protein-coding   GIFtS: 57

GC06P034541
protein kinase C and casein kinase substrate in neurons 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
KIAA1379 2, 3, 5
OTTHUMP00000016231 2
SDPI 1, 2
Descriptions
protein kinase C and casein kinase substrate in neurons 1 2
syndapin I 2
External Ids
HGNC: 85701
Entrez Gene: 299932
UniProtKB: Q9BY113
Ensembl: ENSG000001245077
Search outside databases for aliases for PACSIN1 gene

Previous GC identifers: GC06P034435 GC06P034480

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11
Function: May play a role in vesicle formation and transport

Gene Wiki entry for PACSIN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PACSIN1 gene  

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21.3

PACSIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P034541:     (about GC identifiers)

Start:
34,541,883 bp from pter
End:
34,610,984 bp from pter
Size:
69,102 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000006.10  NT_007592.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11 (See protein sequence)
Recommended Name: Protein kinase C and casein kinase substrate in neurons protein 1  
Size: 444 amino acids; 50966 Da
Subunit: Homo- and hetero-aggregates with other PACSINs. Binds dynamin I, synaptojanin, synapsin I
and the neural Wiskott-Aldrich syndrome protein (N-WASP) (By similarity)
Subcellular location: Cytoplasm (By similarity). Note=Colocalizes with dynamin I at vesicular
structures in the cell body and neurites (By similarity)
Secondary accessions: Q9P2G8

Post-translational modifications:

  • Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC) (Probable)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_065855.1  

    ENSEMBL proteins: 
    ENSP00000363155 ENSP00000244458 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (PACSIN1)
    Human Recombinant Proteins from Abnova (PACSIN1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm NAS--
    GO:0030137 COPI-coated vesicle IEA--
    About this table

    Antibodies for PACSIN1: 
    Browse Antibodies Central at Invitrogen
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    Sigma-Aldrich Antibodies for PACSIN1
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    Antibodies from Abcam (PACSIN1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PACSIN1)
    Novus Biologicals Antibodies for PACSIN1

    Assays for PACSIN1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR001060 FCH
     IPR001452 SH3_domain


       GeneDecks  PACSIN1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9BY11

    ProtoNet protein and cluster: Q9BY11

    2 Blocks protein families:
    IPB001060 Cdc15/Fes/CIP4
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11
    Similarity: Belongs to the PACSIN family
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 SH3 domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PACSIN1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PACSIN1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020804

                  Applied Biosystems Silencer® siRNAs for PACSIN1

                  Sigma-Aldrich siRNA for PACSIN1  
                         Sigma-Aldrich shRNA Panels and shRNA for PACSIN1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PACSIN1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020804
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020804
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_020804 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_020804

    UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11
    Function: May play a role in vesicle formation and transport

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672 protein kinase activity NAS--
    GO:0008092 cytoskeletal protein binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  PACSIN1  (Your Favorite Gene powered by Ingenuity) 
     Huntington's Disease Signaling

       GeneDecks  PACSIN1 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  PACSIN1 


    5/6 Interacting proteins for PACSIN1 (Q9BY111, 2 ENSP000002444583) via UniProtKB, MINT, and/or STRING (see all 6 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNM1Q051931, ENSP000003620143EBI-721769, EBI-713135 STRING (score=.988)
    HTTP428582MINT-7101438
    WASLENSP000002230233STRING (score=.963)
    SYNJ1ENSP000003719313STRING (score=.924)
    PACSIN2ENSP000002632463STRING (score=.869)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045806 negative regulation of endocytosis IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for PACSIN1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PACSIN1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PACSIN1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020804

                  Sigma-Aldrich siRNA for PACSIN1  
                         Sigma-Aldrich shRNA Panels and shRNA for PACSIN1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_020804  

    REFSEQ mRNAs for PACSIN1 gene: 

    NM_020804.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_020804  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020804
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020804
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_020804 

    Additional cDNA sequence: 

    AB037800.2 AF242529.1 AK289956.1 AK294132.1 AL834211.1 BC040228.1 BC128219.1 BC128220.1 
    CR612772.1 

    6 DOTS entries:

    DT.112551  DT.100650803  DT.100698861  DT.40113398  DT.92421140  DT.97776342 

    24/100 AceView cDNA sequences (see all 100 ):

    BM693384 BM703989 T09405 AI822046 CF453906 CR612772 H43777 BM668658 
    NM_020804 BF953173 F03627 BX094526 AB037800 BC040228 BU193429 AL834211 
    BE254304 AA323180 AI804979 Z42045 BP348926 AF242529 BM548244 BF128697 

    highest scoring ESTs for PACSIN1:

    N47315 AA323180 AA324499 AA350673 AB037800 AF242529 AI017889 AI199526 AI804979 AI864586 

    Unigene Cluster for PACSIN1:

    Protein kinase C and casein kinase substrate in neurons 1
    Hs.520087  [show with all ESTs]
    Unigene Representative Sequence: BC040228


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000374043  ENST00000244458  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PACSIN1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PACSIN1

    1 / 2 / 3

    6 probe-sets matching PACSIN1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    54003_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 N47315 1.00 1.00 1.00 1

    60187_at2, 3 U95-C 1 0.81 1.00 0.60 0.35 AI822097 0.60 1.00 0.82 1

    227053_at2, 3 U133-B 1 1.00 1.00 -- -- N47315 1.00 1.00 1.00 1

    224360_s_at2, 3 U133-B 1 1.00 1.00 -- -- AF242529 0.80 1.00 0.91 1

    227053_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    224360_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  PACSIN1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ATTGTGTAAT

    SOURCE GeneReport for Unigene cluster: Hs.520087

    UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11
    Tissue specificity: Highly expressed in brain and in a lesser extent in heart, pancreas and liver

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for PACSIN1 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PACSIN11   -- protein kinase C and casein kinase substrate in neurons more 91.97(n)
    96.85(a)
    608087  XM_844990.1  XP_850083.1 
    chimpanzee
    (Pan troglodytes)
    PACSIN11   -- protein kinase C and casein kinase substrate in neurons more 91.4(n)
    90.07(a)
    462626  XM_518415.2  XP_518415.2 
    cow
    (Bos taurus)
    PACSIN11   -- protein kinase C and casein kinase substrate in neurons more 92.34(n)
    94.14(a)
    520488  XM_598733.3  XP_598733.3 
    rat
    (Rattus norvegicus)
    Pacsin11   -- protein kinase C and casein kinase substrate in neurons more 89.12(n)
    95.92(a)
    29704  NM_017294.1  NP_058990.1 
    mouse
    (Mus musculus)
    Pacsin11, 5 175
    protein kinase C and casein kinase substrate in neurons more1, 5 89.8(n)1
    95.69(a)1
    239691  NM_178365.21  NP_848142.11 
     AK0439675  AK0779585  (see all 9)
    About this table        Species with no ortholog for PACSIN1

    ENSEMBL Gene Tree for PACSIN1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PACSIN1 gene
    PACSIN22  PACSIN32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/403 NCBI SNPs in PACSIN1 are shown (see all 403 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 112)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs69276521,2
    A,C,F,H34541488(+) ATGGGG/TAGAGA 1 -- ng51 trp35Minor allele frequency- T:0.27EU EA WA 594
    rs9130141,2
    A,C,F,H34609507(-) GGGGCT/CGTGGG 1 -- ut31 ese314Minor allele frequency- C:0.27NA MN EA WA 2632
    rs117562801,2
    A,C,F,H34611417(+) TGGGCT/CGTGCC 1 -- ng314Minor allele frequency- C:0.10EU EA WA 410
    rs37343621,2
    C,F,H34610000(-) CCCTCT/CGTGCC 1 -- ut31 ese39Minor allele frequency- C:0.12EA NA EU WA 2216
    rs117584201,2
    C,F,H34611257(+) TGACCA/CGGAGA 1 -- ng316Minor allele frequency- C:0.11EU EA WA NA 602
    rs117584261,2
    C,F,H34611316(+) CCTCAA/GATAGG 1 -- ng318Minor allele frequency- G:0.10EU EA WA NA 782
    rs117562811,2
    A,C34611424(+) TGCCAC/TGCCTT 1 -- ng310--------
    --
    rs132009251,2
    H34606056(+) AGGAAG/AACCTC 1 N/D mis1 ese34Minor allele frequency- A:0.00EU EA WA 394
    rs77678021,2
    H34609484(+) GTCACA/GTGTTT 1 -- ut31 ese34Minor allele frequency- G:0.00EU EA WA 420
    rs23955641,2
    C34541991(+) CCGAGG/TCGCCG 1 -- ut51 ese30--------
    About this table

    HapMap Linkage Disequilibrium images for PACSIN1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 606512

    Human Genome Epidemiology Navigator: PACSIN1 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/21 PubMed articles for PACSIN1 gene (see all 21 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 29993 HGNC: 8570 AceView: PACSIN1 Ensembl:ENSG00000124507 euGenes: HUgn29993
    ECgene: PACSIN1 H-InvDB: PACSIN1
    (According to HUGE)
    About This Section

    HUGE: KIAA1379
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for PACSIN1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for PACSIN1 Antibodies for PACSIN1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for PACSIN1 Browse small molecules at Sigma-Aldrich
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     Antibodies for PACSIN1

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