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DCTN1 Gene

protein-coding   GIFtS: 70
GCID: GC02M074588

Dynactin 1

(Previous names: dynactin 1 (p150, Glued (Drosophila) homolog))
  See DCTN1-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
Dynactin 11 2     P1352
150 KDa Dynein-Associated Polypeptide2 3     Dynactin 1 (P150, Glued Homolog, Drosophila)2
DAP-1502 3     Dynactin Subunit 12
DP-1502 3     p1353
Dynactin 1 (P150, Glued (Drosophila) Homolog)1     p150-glued3
P150 Glued Homolog (Drosophila)1     HMN7B5

External Ids:    HGNC: 27111   Entrez Gene: 16392   Ensembl: ENSG000002048437   OMIM: 6011435   UniProtKB: Q142033   

Export aliases for DCTN1 gene to outside databases

Previous GC identifers: GC02M074577 GC02M074652 GC02M074396 GC02M074413 GC02M074562 GC02M074350 GC02M074499 GC02M074441


(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 DCTN1 Gene:
This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in
size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a
diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and
endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts
with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly
conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing
of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause
distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular
atrophy (dSBMA). (provided by RefSeq, Oct 2008)

GeneCards Summary for DCTN1 Gene:
DCTN1 (dynactin 1) is a protein-coding gene. Diseases associated with DCTN1 include neuropathy, distal hereditary motor, type viib, and distal hereditary motor neuronopathy type viib. GO annotations related to this gene include motor activity. An important paralog of this gene is CLIP2.

UniProtKB/Swiss-Prot: DCTN1_HUMAN, Q14203
Function: Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along
microtubules. Dynein-dynactin interaction is a key component of the mechanism of axonal transport of vesicles and
organelles

Gene Wiki entry for DCTN1 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_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the DCTN1 gene promoter:
         E2F-3a   E2F-4   FAC1   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDCTN1 promoter sequence
   Search Chromatin IP Primers for DCTN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DCTN1


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

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13

DCTN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCTN1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M074588:  view genomic region     (about GC identifiers)

Start:
74,588,281 bp from pter      End:
74,619,214 bp from pter
Size:
30,934 bases      Orientation:
minus 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: DCTN1_HUMAN, Q14203 (See protein sequence)
Recommended Name: Dynactin subunit 1  
Size: 1278 amino acids; 141695 Da
Subunit: Large macromolecular complex of at least 10 components; p150(glued) binds directly to microtubules and to
cytoplasmic dynein. Interacts with the C-terminus of MAPRE1, MAPRE2 and MAPRE3. Interacts (via C-terminus) with
SNX6. Interacts with CLIP1, CLN3, DYNAP, ECM29 and FBXL5. Interacts with MISP; this interaction regulates its
distribution at the cell cortex
Selected PDB 3D structures from and Proteopedia for DCTN1 (see all 9):
1TXQ (3D)        2COY (3D)        2HKN (3D)        2HKQ (3D)        2HL3 (3D)        2HL5 (3D)    
Secondary accessions: A8MY36 B4DM45 E9PFS5 E9PGE1 G5E9H4 O95296 Q6IQ37 Q9BRM9 Q9UIU1 Q9UIU2
Alternative splicing: 6 isoforms:  Q14203-1   Q14203-2   Q14203-3   Q14203-4   Q14203-5   Q14203-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DCTN1: NX_Q14203

Explore proteomics data for DCTN1 at MOPED

Post-translational modifications: 

  • Ubiquitinated by a SCF complex containing FBXL5, leading to its degradation by the proteasome1
  • Ubiquitination2 at Lys1133, Lys1151, Lys1179, Lys1193, Lys1235
  • Modification sites at PhosphoSitePlus

  • See DCTN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001128512.1  NP_001128513.1  NP_001177765.1  NP_001177766.1  NP_004073.2  NP_075408.1  

    ENSEMBL proteins: 
     ENSP00000354791   ENSP00000416711   ENSP00000387270   ENSP00000386406   ENSP00000387327  
     ENSP00000386843   ENSP00000414315   ENSP00000404038   ENSP00000402509   ENSP00000395312  
     ENSP00000413268   ENSP00000409363   ENSP00000400059   ENSP00000407484   ENSP00000377571  
     ENSP00000384844  
    Reactome Protein details: Q14203

    DCTN1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for DCTN1

     
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    DCTN1 Antibody Products:

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    Cloud-Clone Corp. ELISAs for DCTN1
    Cloud-Clone Corp. CLIAs for DCTN1
    Search eBioscience for ELISAs for DCTN1 


    (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:
     IPR000938 CAP-Gly_domain
     IPR022157 Dynactin
     IPR027663 DCTN1

    Graphical View of Domain Structure for InterPro Entry Q14203

    ProtoNet protein and cluster: Q14203

    1 Blocks protein domain: IPB000938 CAP-Gly domain

    UniProtKB/Swiss-Prot: DCTN1_HUMAN, Q14203
    Similarity: Belongs to the dynactin 150 kDa subunit family
    Similarity: Contains 1 CAP-Gly domain


    Find genes that share domains with DCTN1           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: DCTN1_HUMAN, Q14203
    Function: Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along
    microtubules. Dynein-dynactin interaction is a key component of the mechanism of axonal transport of vesicles and
    organelles

         Genatlas biochemistry entry for DCTN1:
    dynactin 1,component of a large macromolecular complex required for the cytoplasmic dynein-driven movement of
    organelles along microtubules,homologous to Drosophila glued

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0005515protein binding IPI15107855
    GO:0016740transferase activity ----
    GO:0045502dynein binding ----
    GO:0048037cofactor binding ----
         
    Find genes that share ontologies with DCTN1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DCTN1:
     Decreased viability 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dctn1):
     behavior/neurological  cellular  embryogenesis  mortality/aging  nervous system 

    Find genes that share phenotypes with DCTN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dctn1tm1.1Cai for DCTN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DCTN1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DCTN1

    miRNA
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    miRTarBase miRNAs that target DCTN1:
    hsa-mir-25-3p (MIRT050276), hsa-mir-361-5p (MIRT044073), hsa-mir-1296-5p (MIRT036100), hsa-mir-93-5p (MIRT048854)

    Block miRNA regulation of human, mouse, rat DCTN1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate DCTN1:
    hsa-miR-9 hsa-miR-125a-5p hsa-miR-544b hsa-miR-298 hsa-miR-125b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidDCTN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DCTN1
    Predesigned siRNA for gene silencing in human, mouse, rat DCTN1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 6): DCTN1 (NM_001135040)
    Sino Biological Human cDNA Clone for DCTN1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DCTN1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCTN1


    (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
    DCTN1_HUMAN, Q14203: Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane3
    endosome2
    golgi apparatus2
    nucleus2
    endoplasmic reticulum1
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore IDA19468067
    GO:0000922spindle pole IDA14718566
    GO:0005737cytoplasm TAS1828535
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with DCTN1           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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    SuperPaths for DCTN1 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    Cytoskeleton remodeling Neurofilaments0.32
    2Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    3Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45


    Find genes that share SuperPaths with DCTN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DCTN1
        Huntington's Disease Pathway

    2 GeneGo (Thomson Reuters) Pathways for DCTN1
        Cell cycle Spindle assembly and chromosome separation
    Cytoskeleton remodeling Neurofilaments

    1 BioSystems Pathway for DCTN1
        N-cadherin signaling events


    Selected Reactome Pathways for DCTN1 (see all 6)
        XBP1(S) activates chaperone genes
    Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    MHC class II antigen presentation


    2 Kegg Pathways  (Kegg details for DCTN1):
        Vasopressin-regulated water reabsorption
    Huntington's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including DCTN1: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DCTN1

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

    Selected Interacting proteins for DCTN1 (Q142031, 2, 3 ENSP000003547914) via UniProtKB, MINT, STRING, and/or I2D (see all 740)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNC1I1O145762, 3, ENSP000003201304MINT-7899583 MINT-4049943 MINT-7899565 MINT-8254844 I2D: score=2 STRING: ENSP00000320130
    DYNC2LI1Q8TCX12, 3, ENSP000002606054MINT-8141655 MINT-8141681 MINT-8141769 I2D: score=1 STRING: ENSP00000260605
    DCTN2Q135612, 3, ENSP000004089104MINT-7945693 MINT-4049943 I2D: score=1 STRING: ENSP00000408910
    NDC80O147772, 3, ENSP000002615974MINT-7945693 MINT-8058311 I2D: score=1 STRING: ENSP00000261597
    RAB6AP203402, 3, ENSP000003114494MINT-2883031 I2D: score=4 STRING: ENSP00000311449
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006810transport IEA--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007067mitosis NAS1828535

    Find genes that share ontologies with DCTN1           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 DCTN1

    1 Novoseek inferred chemical compound relationship for DCTN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 9.75 1 17122035 (1)



    Find genes that share compounds with DCTN1           About GenesLikeMe



    (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 DCTN1 gene (6 alternative transcripts): 
    NM_001135040.2  NM_001135041.2  NM_001190836.1  NM_001190837.1  NM_004082.4  NM_023019.3  

    Unigene Cluster for DCTN1:

    Dynactin 1
    Hs.516111  [show with all ESTs]
    Unigene Representative Sequence: NM_004082
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000361874(uc002skx.3) ENST00000491465(uc002skt.2) ENST00000497666
    ENST00000434055 ENST00000409438 ENST00000409240(uc002sky.3) ENST00000409868
    ENST00000466110 ENST00000409567 ENST00000492717 ENST00000495895 ENST00000495643
    ENST00000470351 ENST00000463583 ENST00000477966 ENST00000458655 ENST00000462813
    ENST00000454119
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    hsa-miR-9 hsa-miR-125a-5p hsa-miR-544b hsa-miR-298 hsa-miR-125b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidDCTN1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat DCTN1

    Additional mRNA sequence: 

    AK055298.1 AK297286.1 AK314352.1 AK315014.1 BC013978.2 BC071583.1 BX640799.1 NR_033935.1 
    U73799.1 U90445.1 X98801.1 

    Selected DOTS entries (see all 43):

    DT.92460168  DT.91638323  DT.92460190  DT.95165631  DT.100832599  DT.95308500  DT.100832611  DT.120983546 
    DT.120983664  DT.120983588  DT.120983563  DT.120983587  DT.95299107  DT.95165625  DT.102834602  DT.97862324 
    DT.100832601  DT.120983656  DT.120983686  DT.120983538  DT.120983719  DT.100832596  DT.120983566  DT.100832610 

    Selected AceView cDNA sequences (see all 565):

    BF981899 BM694957 CA390003 BF922025 BQ900645 BQ938286 BC013978 BM454949 
    F01501 BQ691735 BM699997 BQ672568 BM705208 AJ711231 BG745639 AL711397 
    BE794017 CD519232 BX479692 CA417762 BQ671800 BU682720 CA447915 AF243499 

    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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    DCTN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCGGCTGGT
    DCTN1 Expression
    About this image


    DCTN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Umbilical Cord (Extraembryonic Tissues)
    DCTN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DCTN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516111

    UniProtKB/Swiss-Prot: DCTN1_HUMAN, Q14203
    Tissue specificity: Brain

        Pathway & Disease-focused RT2 Profiler PCR Array including DCTN1: 
              Huntington's Disease in human mouse rat

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    In Situ
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    (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 and fungi.

    Orthologs for DCTN1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dctn11 , 5 dynactin 11, 5 90.01(n)1
    97.1(a)1
      6 (35.94 cM)5
    131911  NM_007835.21  NP_031861.21 
     831659205 
    chicken
    (Gallus gallus)
    Aves DCTN11 dynactin 1 75.38(n)
    81.34(a)
      426238  NM_001031367.1  NP_001026538.1 
    lizard
    (Anolis carolinensis)
    Reptilia DCTN16
    dynactin 1
    81(a)
    1 ↔ 1
    GL343574.1(106765-158513)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689502 hypothetical protein MGC68950 76.57(n)    BC059305.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dctn1b1 dynactin 1b 71.02(n)
    75.88(a)
      100003026  XM_001342637.3  XP_001342673.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gl1 , 3 cell fate determination microtubule
    motor3
    Glued1
    33(a)
    (best of 2)3
    46.78(n)1
    36.37(a)1
      395361  NM_079337.31  NP_524061.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dnc-13 dynactin 28(a)   IV(10927097-10933278)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NIP1006
    Large subunit of the dynactin complex, which is in...
    15(a)
    1 → many
    XVI(220167-222773) YPL174C


    ENSEMBL Gene Tree for DCTN1 (if available)
    TreeFam Gene Tree for DCTN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DCTN1 gene
    CLIP22  CEP3502  CLIP32  TBCB2  CLIP42  CLIP12  ENSG000002643242  
    8 SIMAP similar genes for DCTN1 using alignment to 11 protein entries:     DCTN1_HUMAN (see all proteins):
    DKFZp686I0746    DKFZp686E0752    DKFZp686E191    CLIP1    CYLD    TBCB
    CEP350    KIF13B

    Find genes that share paralogs with DCTN1           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 DCTN1 (see all 959)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638674
    Perry syndrome (PERRYS)4--see VAR_0638672 G A mis40--------
    VAR_0638704
    Perry syndrome (PERRYS)4--see VAR_0638702 T P mis40--------
    VAR_0638694
    Perry syndrome (PERRYS)4--see VAR_0638692 G R mis40--------
    VAR_0638714
    Perry syndrome (PERRYS)4--see VAR_0638712 Q P mis40--------
    VAR_0638684
    Perry syndrome (PERRYS)4--see VAR_0638682 G E mis40--------
    VAR_0158504
    Neuronopathy, distal hereditary motor, 7B (HMN7B)4--see VAR_0158502 G S mis40--------
    rs724664871,2
    Cpathogenic174476423(-) TGTTCA/CAGGCA 9 Q P mis10--------
    rs724664861,2
    Cpathogenic174476430(-) ATGGAA/CCTGTT 9 T P mis10--------
    rs675863891,2
    Cpathogenic174476432(-) TGATGA/C/GAACTG 14 E A G mis10--------
    rs724664851,2
    Cpathogenic174476433(-) ATGATA/GGAACT 9 R G mis10--------

    HapMap Linkage Disequilibrium report for DCTN1 (74588281 - 74619214 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for DCTN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834261CNV Loss17160897
    nsv2784CNV Loss18451855
    nsv458185CNV Loss19166990
    nsv515851CNV Loss19592680
    nsv820134CNV Loss19587683
    nsv874287CNV Loss21882294
    dgv4166n71CNV Loss21882294
    esv25070CNV Gain19812545
    dgv1199e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): DCTN1
    Locus Specific Mutation Databases (LSDB): DCTN1

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for DCTN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601143   
    OMIM disorders: 607641  105400  168605  
    UniProtKB/Swiss-Prot: DCTN1_HUMAN, Q14203
  • Neuronopathy, distal hereditary motor, 7B (HMN7B) [MIM:607641]: A neuromuscular disorder. Distal
    hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective
    degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior
    horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without
    clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and
    peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower
    limbs and/or to the distal upper limbs. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Perry syndrome (PERRYS) [MIM:168605]: A neuropsychiatric disorder characterized by mental depression not
    responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight
    loss. Parkinsonism develops later and respiratory failure occurred terminally. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for DCTN1:    
    About MalaCards
    neuropathy, distal hereditary motor, type viib    distal hereditary motor neuronopathy type viib    perry syndrome    alstrom syndrome
    neuronopathy, distal hereditary motor, type viia    agnathia-otocephaly complex    amyotrophic lateral sclerosis    miyoshi myopathy
    muscular atrophy

    3 diseases from the University of Copenhagen DISEASES database for DCTN1:
    Amyotrophic lateral sclerosis     Lissencephaly     Huntington's disease

    Find genes that share disorders with DCTN1           About GenesLikeMe

    5 Novoseek inferred disease relationships for DCTN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    miyoshi myopathy 73.8 1 9799602 (1)
    amyotrophic lateral sclerosis 68.9 5 17620987 (2), 17824900 (1), 16240349 (1)
    motor neuron disease 68.4 1 18812314 (1)
    neurodegeneration 51 7 17824900 (2), 14753659 (1), 17969353 (1), 17620987 (1)
    neuromuscular diseases 32 2 9070275 (2)

    Genetic Association Database (GAD): DCTN1
    Human Genome Epidemiology (HuGE) Navigator: DCTN1 (5 documents)

    Export disorders for DCTN1 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 DCTN1 gene, integrated from 10 sources (see all 169):
    (articles sorted by number of sources associating them with DCTN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. (PubMed id 15326253)1, 2, 4, 9 Muench C.... Ludolph A.C. (Neurology 2004)
    2. Characterization of DCTN1 genetic variability in neurodegeneration. (PubMed id 19506225)1, 2, 4 Vilarino-Gueell C.... Farrer M.J. (Neurology 2009)
    3. The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis. (PubMed id 17824900)1, 4, 9 MA1nch C....Hemmer B. (Acta Neurol. Scand. 2007)
    4. FBXL5 interacts with p150Glued and regulates its ubiquitination. (PubMed id 17532294)1, 2, 9 Zhang N.... Yao X. (Biochem. Biophys. Res. Commun. 2007)
    5. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. (PubMed id 16505168)1, 2, 9 Levy J.R.... Holzbaur E.L.F. (J. Cell Biol. 2006)
    6. Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. (PubMed id 9799602)1, 2, 9 Collin G.B.... Naggert J.K. (Genomics 1998)
    7. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. (PubMed id 16240349)1, 2, 9 Muench C....Ludolph A.C. (Ann. Neurol. 2005)
    8. Functionally distinct isoforms of dynactin are expressed in human neurons. (PubMed id 8856662)1, 2, 9 Tokito M.K.... Holzbaur E.L.F. (Mol. Biol. Cell 1996)
    9. Localization of the DCTN1 gene encoding p150Glued to human chromosome 2p13 by fluorescence in situ hybridization. (PubMed id 8838327)1, 2, 9 Holzbaur E.L.F. and Tokito M.K. (Genomics 1996)
    10. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 1639 HGNC: 2711 AceView: DCTN1andSLC4A5 Ensembl:ENSG00000204843 euGenes: HUgn1639
    ECgene: DCTN1 Kegg: 1639 H-InvDB: DCTN1

    (According to HUGE)
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      --

    (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 DCTN1 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 DCTN1 gene:
    Search GeneIP for patents involving DCTN1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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