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

DCTN1 Gene

protein-coding   GIFtS: 70
GCID: GC02M074588

Dynactin 1

(Previous names: dynactin 1 (p150, Glued (Drosophila) homolog))
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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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n409550      

Export aliases for DCTN1 gene to outside databases

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


(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 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, and is affiliated with the lncRNA class. Diseases associated with DCTN1 include perry syndrome, and mental depression, and among its related super-pathways are Cytoskeleton remodeling Neurofilaments and G2/M Transition. GO annotations related to this gene include protein binding and motor activity. An important paralog of this gene is TBCB.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DCTN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules
6/9 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:

  • UniProtKB: Ubiquitinated by a SCF complex containing FBXL5, leading to its degradation by the proteasome
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14203

  • DCTN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DCTN1 Protein Expression
    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
    Human Recombinant Protein Products for DCTN1: 
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    Cloud-Clone Corp. Proteins for DCTN1 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

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

    DCTN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000938 CAP-Gly_domain
     IPR022157 Dynactin

    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


    DCTN1 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: 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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0005515protein binding IPI15107855
    GO:0016740transferase activity ----
    GO:0048037cofactor binding ----
         
    DCTN1 for ontologies           About GeneDecksing


    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 

    DCTN1 for phenotypes           About GeneDecksing

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

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    SwitchGear 3'UTR luciferase reporter plasmidDCTN1 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 DCTN1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    2Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    3Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    4Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for DCTN1
        Cell cycle Spindle assembly and chromosome separation
    Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules

    1 Downloadable PowerPoint Slide of QIAGEN 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


    5/15        Reactome Pathways for DCTN1 (see all 15)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    Adaptive Immune System
    Activation of Chaperone Genes by XBP1(S)


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


    DCTN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DCTN1

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

    5/716 Interacting proteins for DCTN1 (Q142031, 2, 3 ENSP000003547914) via UniProtKB, MINT, STRING, and/or I2D (see all 716)
    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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

    DCTN1 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

    DCTN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about DCTN1

    (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 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
    18/26 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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    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 

    24/43 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 

    24/565 AceView cDNA sequences (see all 565):

    CD519232 BM914228 BU171782 BF981899 F05247 BM755865 BQ688602 BQ651019 
    CA390003 BU149970 BF343459 BM975938 BU848897 AA351248 BQ687187 BQ671066 
    CA447915 BQ894341 BQ026773 BE796625 NM_133478 NM_133479 H05928 CA393292 

    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™, 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

    DCTN1 expression in normal human tissues (normalized intensities)      DCTN1 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Breast (Uncategorized)
             Human Mammary Fibroblasts (HMF)   
     
     Fibroblast
             Human Mammary Fibroblasts (HMF)   
     
     Umbilical Cord (Extraembryonic Tissues)

    See DCTN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCTN1

    SOURCE GeneReport for Unigene cluster: Hs.516111

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

        SABiosciences Expression via Pathway-Focused PCR Array including DCTN1: 
              Huntington's Disease in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DCTN1 gene from 8/18 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 89.96(n)1
    97.09(a)1
      6 (35.94 cM)5
    131911  NM_007835.21  NP_031861.21 
     831659205 
    chicken
    (Gallus gallus)
    Aves DCTN11 dynactin 1 74.99(n)
    80.39(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 70.63(n)
    75.14(a)
      100003026  XM_001342637.2  XP_001342673.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gl1 , 3 cell fate determination microtubule
    motor3
    Glued1
    33(a)
    (best of 2)3
    46.56(n)1
    36.3(a)1
      395361  NM_079337.21  NP_524061.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dnc-11 , 3 dynactin3
    Protein DNC-11
    28(a)3
    42.17(n)1
    29.53(a)1
      IV(10927097-10933278)3
    1779871  NM_069632.51  NP_502033.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALF16
    Alpha-tubulin folding protein, similar to mammalia...
    7(a)
    1 → many
    XIV(349907-350671)


    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)
    About This Section
    Paralogs for DCTN1 gene
    TBCB2  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

    DCTN1 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

    10/959 SNPs in DCTN1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/30 diseases for DCTN1 (see all 30):    About MalaCards
    perry syndrome    mental depression    distal hereditary motor neuronopathy type viib    alstrom syndrome
    spinal-bulbar muscular atrophy    miyoshi myopathy    motor neuron disease    muscular atrophy
    neuromuscular disease    distal hereditary motor neuropathy    lateral sclerosis    neuronal ceroid lipofuscinosis
    amyotrophic lateral sclerosis    respiratory failure    limb-girdle muscular dystrophy    lissencephaly
    frontotemporal dementia    myopathy    paralysis    retinitis pigmentosa

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

    DCTN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for DCTN1 gene, integrated from 9 sources (see all 166):
    (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 Munch C....Ludolph A.C. (2004)
    2. Characterization of DCTN1 genetic variability in neur odegeneration. (PubMed id 19506225)1, 2, 4 VilariA+o-GA1ell C....Farrer M.J. (2009)
    3. The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis. (PubMed id 17824900)1, 4, 9 Munch C....Hemmer B. (2007)
    4. FBXL5 interacts with p150Glued and regulates its ubiquitination. (PubMed id 17532294)1, 2, 9 Zhang N.... Yao X. (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. (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. (1998)
    7. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. (PubMed id 16240349)1, 2, 9 Munch C....Ludolph A.C. (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. (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. (1996)
    10. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PubMed id 20682791)1, 2 Gorbea C.... Rechsteiner M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1639 HGNC: 2711 AceView: DCTN1andSLC4A5 Ensembl:ENSG00000204843 euGenes: HUgn1639
    ECgene: DCTN1 Kegg: 1639 H-InvDB: DCTN1

    (According to HUGE)
    About This Section
      --

    (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 DCTN1 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 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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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