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PACSIN1 Gene

protein-coding   GIFtS: 56
GCID: GC06P037285

Protein Kinase C And Casein Kinase Substrate In Neurons...

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(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
Protein Kinase C And Casein Kinase Substrate In Neurons 11 2     Protein Kinase C And Casein Kinase Substrate In Neurons Protein 12
Syndapin I1 2     Syndapin 12
KIAA13793 5     syndapin-12
SDPI2     Syndapin-13

External Ids:    HGNC: 85701   Entrez Gene: 299932   Ensembl: ENSG000001245077   OMIM: 6065125   UniProtKB: Q9BY113   

Export aliases for PACSIN1 gene to outside databases

Previous GC identifers: GC06P034435 GC06P034480 GC06P034541 GC06P034156 GC06P034562 GC06P035769 GC06P036299


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PACSIN1 Gene:
PACSIN1 (protein kinase C and casein kinase substrate in neurons 1) is a protein-coding gene. GO annotations related to this gene include cytoskeletal protein binding and phospholipid binding. An important paralog of this gene is PACSIN2.

UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11
Function: Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this
decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular
transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the
actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to
the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of
neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released
neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and
inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane
tubulation

Gene Wiki entry for PACSIN1 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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the PACSIN1 gene promoter:
         Sp1   Egr-1   CUTL1   MEF-2A   PPAR-gamma1   STAT3   PPAR-gamma2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPACSIN1 promoter sequence
   Search Chromatin IP Primers for PACSIN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PACSIN1


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

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)
PACSIN1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P037285:  view genomic region     (about GC identifiers)

Start:
34,433,853 bp from pter      End:
34,504,039 bp from pter
Size:
70,187 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: May form heterooligomers with other PACSINs. Interacts with MAPT. Interacts with TRPV4 (By similarity).
Interacts (via SH3 domain) with SYNJ1 and WASL. Interacts with DNM2 and DNM3. Interacts with both COBL and DBNL.
Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with EHD1 and EHD3 (By similarity).
Homodimer. Interacts (via SH3 domain) with DNM1; the interaction is reduced by DNM1 phosphorylation
Sequence caution: Sequence=BAA92617.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for PACSIN1:
3HAH (3D)        3HAI (3D)        3Q84 (3D)        3QNI (3D)    
Secondary accessions: Q9P2G8

Explore the universe of human proteins at neXtProt for PACSIN1: NX_Q9BY11

Explore proteomics data for PACSIN1 at MOPED

Post-translational modifications: 

  • Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC) (Probable)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PACSIN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186512.1  NP_065855.1  

    ENSEMBL proteins: 
     ENSP00000244458   ENSP00000363155   ENSP00000439639  

    PACSIN1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for PACSIN1

     
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    Cloud-Clone Corp. ELISAs for PACSIN1
    Cloud-Clone Corp. CLIAs for PACSIN1
    Search eBioscience for ELISAs for PACSIN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR028518 PACSIN1
     IPR001060 FCH_dom
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q9BY11

    ProtoNet protein and cluster: Q9BY11

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


    UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11
    Domain: The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation. In the
    autoinhibited conformation, interaction with the SH3 domain inhibits membrane tubulation mediated by the F-BAR
    domain. DNM1 binding abolishes autoinhibition (By similarity)
    Similarity: Belongs to the PACSIN family
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with PACSIN1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PACN1_HUMAN, Q9BY11
    Function: Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this
    decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular
    transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the
    actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to
    the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of
    neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released
    neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and
    inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane
    tubulation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16318909
    GO:0005543phospholipid binding IDA19549836
    GO:0008092cytoskeletal protein binding IEA--
         
    Find genes that share ontologies with PACSIN1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pacsin1):
     homeostasis/metabolism  immune system 

    Find genes that share phenotypes with PACSIN1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PACSIN1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PACSIN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PACSIN1

    miRNA
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    Block miRNA regulation of human, mouse, rat PACSIN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACSIN1 (see all 56):
    hsa-miR-2052 hsa-miR-100* hsa-miR-19b-2* hsa-miR-875-5p hsa-miR-764 hsa-miR-4267 hsa-miR-105 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidPACSIN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PACSIN1

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    Sino Biological Human cDNA Clone for PACSIN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PACSIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PACSIN1
    Addgene plasmids for PACSIN1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACSIN1


    (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
    PACN1_HUMAN, Q9BY11: Cytoplasm (By similarity). Cell projection (By similarity). Cell junction, synapse,
    synaptosome (By similarity). Cell projection, ruffle membrane (By similarity). Membrane; Peripheral membrane
    protein. Cytoplasmic vesicle membrane; Peripheral membrane protein (By similarity). Cell junction, synapse (By
    similarity). Cytoplasm, cytosol (By similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side (By
    similarity). Note=Colocalizes with MAPT in axons. In primary neuronal cultures, present at a high level in
    presynaptic nerve terminals and in the cell body. Colocalizes with DNM1 at vesicular structures in the cell body
    and neurites (By similarity). Associates with membranes via its F-BAR domain
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    golgi apparatus2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane ISS--
    GO:0030054cell junction IEA--
    GO:0030137COPI-coated vesicle IEA--

    Find genes that share ontologies with PACSIN1           About GenesLikeMe


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including PACSIN1: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PACSIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PACSIN1 (Q9BY111, 2, 3 ENSP000002444584) via UniProtKB, MINT, STRING, and/or I2D (see all 116)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007015actin filament organization ----
    GO:0045806negative regulation of endocytosis IEA--
    GO:0048488synaptic vesicle endocytosis ISS--
    GO:0048666neuron development ----
    GO:0048812neuron projection morphogenesis ISS--

    Find genes that share ontologies with PACSIN1           About GenesLikeMe



    (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 PACSIN1 (PACN1)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PACSIN1 gene (2 alternative transcripts): 
    NM_001199583.2  NM_020804.4  

    Unigene Cluster for PACSIN1:

    Protein kinase C and casein kinase substrate in neurons 1
    Hs.520087  [show with all ESTs]
    Unigene Representative Sequence: NM_020804
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244458(uc003ojo.3) ENST00000374043 ENST00000493633 ENST00000486120
    ENST00000487760 ENST00000538621(uc003ojp.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat PACSIN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACSIN1 (see all 56):
    hsa-miR-2052 hsa-miR-100* hsa-miR-19b-2* hsa-miR-875-5p hsa-miR-764 hsa-miR-4267 hsa-miR-105 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidPACSIN1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PACSIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PACSIN1
    Addgene plasmids for PACSIN1 
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PACSIN1
      QuantiFast Probe-based Assays in human, mouse, rat PACSIN1

    Additional mRNA sequence: 

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

    6 DOTS entries:

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

    Selected AceView cDNA sequences (see all 100):

    F03627 BM703989 BM693384 CR612772 BM668658 AI804979 AB037800 NM_020804 
    BC040228 T09405 CF453906 BX094526 BE254304 BU193429 AL834211 H43777 
    AA323180 BF953173 AI822046 BM809027 AL119244 T33577 BM805732 BI755099 

    GeneLoc Exon Structure


    (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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    PACSIN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGTGTAAT
    PACSIN1 Expression
    About this image


    PACSIN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Eye (Sensory Organs)
    PACSIN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PACSIN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520087

    UniProtKB/Swiss-Prot: PACN1_HUMAN, Q9BY11
    Tissue specificity: Highly expressed in brain and, at much lower levels, in heart and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Array including PACSIN1: 
              Huntington's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACSIN1

    (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 PACSIN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pacsin11 , 5 protein kinase C and casein kinase substrate in neurons more1, 5 89.8(n)1
    95.69(a)1
      17 (14.59 cM)5
    239691  NM_001286743.11  NP_001273672.11 
     276555095 
    chicken
    (Gallus gallus)
    Aves PACSIN11 protein kinase C and casein kinase substrate in neurons more 81.87(n)
    86(a)
      419903  XM_418028.4  XP_418028.3 
    lizard
    (Anolis carolinensis)
    Reptilia PACSIN16
    protein kinase C and casein kinase substrate in ne...
    82(a)
    1 ↔ 1
    4(121345168-121400619)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pacsin11 protein kinase C and casein kinase substrate in neurons more 69.68(n)
    73.59(a)
      100494558  XM_004910691.1  XP_004910748.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pacsin1b1 protein kinase C and casein kinase substrate in neurons more 74.89(n)
    76.47(a)
      619246  NM_001033728.1  NP_001028900.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Synd6
    Syndapin
    40(a)
    1 → many
    3R(16658507-16665840)
    worm
    (Caenorhabditis elegans)
    Secernentea F45E1.73   -- 30(a)   X(8024443-8028056)   --


    ENSEMBL Gene Tree for PACSIN1 (if available)
    TreeFam Gene Tree for PACSIN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PACSIN1 gene
    PACSIN22  PACSIN32  
    6 SIMAP similar genes for PACSIN1 using alignment to 4 protein entries:     PACN1_HUMAN (see all proteins):
    PACSIN2    PACSIN3    SH3GL1    ARHGEF7    SH3GL2    ITSN1

    Find genes that share paralogs with PACSIN1           About GenesLikeMe



    (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 PACSIN1 (see all 1476)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs753443581,2
    C,F--34431846(+) GATGGC/TCTAAA 1 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1924049741,2
    --34431858(+) CAGAGC/TCTTAT 1 -- us2k10--------
    rs1843060201,2
    --34432041(+) ATTGCC/TCTGGG 1 -- us2k10--------
    rs1472139641,2
    --34432223(+) CAATCC/TCTACA 1 -- us2k10--------
    rs1885794121,2
    --34432355(+) GGAGTC/TTCGCT 1 -- us2k10--------
    rs1914865041,2
    --34432367(+) TGTCGC/TCCAGG 1 -- us2k10--------
    rs1839552901,2
    --34432540(+) GGATGA/GTCTCG 1 -- us2k10--------
    rs94697891,2
    C--34432734(+) GATCAT/CCTGAG 1 -- us2k13Minor allele frequency- C:0.17NA 6
    rs1890729061,2
    --34432750(+) GAGTTC/TGAGAC 1 -- us2k10--------
    rs623986811,2
    C--34432883(+) GGAGGT/CGGAGG 1 -- us2k12Minor allele frequency- C:0.33NA CSA 3

    HapMap Linkage Disequilibrium report for PACSIN1 (34433853 - 34504039 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PACSIN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673003CNV Deletion23128226
    nsv885786CNV Loss21882294
    nsv516578CNV Loss19592680
    dgv6833n71CNV Loss21882294
    nsv462904CNV Gain19166990
    dgv6831n71CNV Gain21882294
    dgv6832n71CNV Gain21882294
    dgv1938e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606512    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for PACSIN1:
    Huntington's disease

    Find genes that share disorders with PACSIN1           About GenesLikeMe

    Genetic Association Database (GAD): PACSIN1
    Human Genome Epidemiology (HuGE) Navigator: PACSIN1 (1 document)

    Export disorders for PACSIN1 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 PACSIN1 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PACSIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. (PubMed id 11179684)1, 2, 3 Sumoy L.... Escarceller M. (Gene 2001)
    2. Versatile membrane deformation potential of activated pacsin. (PubMed id 23236520)1, 2 Goh S.L.... Sondermann H. (PLoS ONE 2012)
    3. Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin. (PubMed id 19549836)1, 2 Wang Q.... Sondermann H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (Int. J. Cancer 2008)
    5. 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)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    7. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    8. Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin. (PubMed id 23898200)1 Caron N.S....Truant R. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    9. Phosphorylation of syndapin I F-BAR domain at two helix-capping motifs regulates membrane tubulation. (PubMed id 22355135)1 Quan A....Robinson P.J. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Comprehensive analysis of interactions between the Src-associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)1 Asbach B....Wagner R. (PLoS ONE 2012)

    (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: 29993 HGNC: 8570 AceView: PACSIN1 Ensembl:ENSG00000124507 euGenes: HUgn29993
    ECgene: PACSIN1 H-InvDB: PACSIN1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1379

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

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    NameDescription
    PharmGKB entry for PACSIN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PACSIN1 gene:
    Search GeneIP for patents involving PACSIN1

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



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