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

DCTN1 Gene

protein-coding   GIFtS: 68
GCID: GC02M074588

dynactin 1

(Previous names: dynactin 1 (p150, Glued (Drosophila) homolog) )
 Explore 35 diseases affiliated with
DCTN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DCTN1    

Aliases
for DCTN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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     Dynactin 1 (P150, Glued Homolog, Drosophila)2
150 KDa Dynein-Associated Polypeptide2 3     Dynactin Subunit 12
DAP-1502 3     P1352
DP-1502 3     P150-Glued1
Dynactin 1 (P150, Glued (Drosophila) Homolog)1     HMN7B5
P1352     

External Ids:    HGNC: 27111   Entrez Gene: 16392   Ensembl: ENSG000002048437   OMIM: 6011435   UniProtKB: Q142033   
ORGUL members:         
NONCODE:n409550    

Export aliases for DCTN1 gene to outside databases

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


Summaries
for DCTN1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: DCTN1 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

Proteins
for DCTN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
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: B4DM45 E9PFS5 E9PGE1 G5E9H4 O95296 Q6IQ37 Q9BRM9 Q9UIU1 Q9UIU2
Alternative splicing: 5 isoforms:  Q14203-1   Q14203-2   Q14203-3   Q14203-4   Q14203-5   (No experimental confirmation available)

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

Post-translational modifications:

  • Ubiquitinated by a SCF complex containing FBXL5, leading to its degradation by the proteasome1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14203

    • DCTN1 Protein expression data from MOPED and PaxDb:    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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    Novus Biologicals DCTN1 Protein
    Novus Biologicals DCTN1 Lysate
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    Uscn Proteins for DCTN1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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--

    DCTN1 for ontologies           About GeneDecksing



    DCTN1 Antibody Products: 
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    Uscn ELISAs and CLIAs for DCTN1

    Protein Domains /
    Families
    for DCTN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DCTN1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000938 CAP-Gly_domain
     IPR022157 Dynactin

    Graphical View of Domain Structure for InterPro Entry Q14203

    ProtoNet protein and cluster: Q14203

    1 Blocks protein family: 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


    Function
    for DCTN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0005515protein binding IPI18000879
         
    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:
         Mouse knock-out Dctn1tm1.1Cai for DCTN1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DCTN1 

    miRNA
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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 plasmid: DCTN1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DCTN1 (see all 7)
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for DCTN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    		Recruitment of mitotic centrosome proteins and complexes1.00
    		Mitotic G2-G2/M phases0.81
    		Centrosome maturation1.00
    		Loss of proteins required for interphase microtubule organization from the centrosome0.78
    		G2/M Transition0.83
    		Loss of Nlp from mitotic centrosomes0.78
    2Activation of Chaperone Genes by XBP1(S)
    		Activation of Chaperone Genes by XBP1(S)1.00
    		Unfolded Protein Response0.71
    		Activation of Chaperones by IRE1alpha0.94
    3Cytoskeleton remodeling Neurofilaments
    		Cytoskeleton remodeling Neurofilaments1.00
    		Cytoplasmic microtubules0.32
    		Cytoskeleton remodeling_Neurofilaments0.91
    4Cell cycle_Spindle assembly and chromosome separation
    		Cell cycle_Spindle assembly and chromosome separation1.00
    		Cell cycle Spindle assembly and chromosome separation0.94
    5Immune System
    		Immune System1.00
    		Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    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

    5/17        Reactome Pathways for DCTN1 (see all 17)
        Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    Transport of antigen loaded MHC II molecules to surface
    G2/M Transition
    Metabolism of proteins


    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)

    5/684 Interacting proteins for DCTN1 (Q142031, 2, 3 ENSP000003547914) via UniProtKB, MINT, STRING, and/or I2D (see all 684)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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



    Drugs & Compounds
    for DCTN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DCTN1
    1 Novoseek 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 

    Transcripts
    for DCTN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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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    6 QIAGEN miScript miRNA 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
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    24/44 DOTS entries (see all 44):

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

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

    BM449545 CA393292 BP366042 CB154396 AW084273 T32934 CB127373 BC013978 
    BU682720 BI224537 AL039311 BQ061695 CB156579 BQ690075 CF125009 BQ895029 
    AL698722 BU726337 AJ709213 AI095879 BQ719068 CA447915 NM_133478 BM699997 

    GeneLoc Exon Structure


    Expression
    for DCTN1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCGGCTGGT
    DCTN1 Expression
    About this image
    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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    In Situ
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    Orthologs
    for DCTN1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DCTN1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 GL343574.1(122726-156065)
    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 


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

    Paralogs
    for DCTN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DCTN1 gene
    CLIP22  CEP3502  CLIP32  TBCB2  CLIP42  CLIP12  ENSG000002643242  
    8 SIMAP similar genes for DCTN1 using alignment to 12 protein entries:     DCTN1_HUMAN (see all proteins):
    DKFZp686I0746    DKFZp686E0752    DKFZp686E191    CLIP1    CYLD    TBCB
    CEP350    KIF13B

    DCTN1 for paralogs           About GeneDecksing



    Genomic Variants
    for DCTN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/716 NCBI SNPs in DCTN1 are shown (see all 716)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs724664871,2
    		Cpathogenic74341498(-) TGTTCA/CAGGCA 9 Q P nc-transcript-variantmis10--------
    rs724664861,2
    		Cpathogenic74341505(-) ATGGAA/CCTGTT 9 T P mis10--------
    rs675863891,2
    		Cpathogenic74341507(-) TGATGA/C/GAACTG 14 E A G mis10--------
    rs724664851,2
    		Cpathogenic74341508(-) ATGATA/GGAACT 9 R G nc-transcript-variantmis10--------
    rs1219093421,2
    		Cpathogenic74341544(-) GGGTAA/GGCGTG 9 S G mis10--------
    rs724664961,2
    		C,Fother74325030(-) AGTGAC/TCTTCT 13 T I mis12Minor allele frequency- T:0.00NA EU 5875
    rs1219093441,2
    		Cother74330336(-) TGCTCC/TGGGAT 13 R W mis11Minor allele frequency- T:0.00NA 4552
    rs75704811,2
    		C--74324581(+) CTCAAC/TACCAC 7 -- ds5001 int10--------
    rs31777761,2
    		H--74324605(-) AACTTC/TTGCTT 7 -- ut31 nc-transcript-variantese34Minor allele frequency- T:0.00NS EA 416
    rs170098901,2
    		F--74324667(-) ACCCCC/ACCACC 7 -- ut31 nc-transcript-variantese31Minor allele frequency- A:0.12MN 184

    HapMap Linkage Disequilibrium report for DCTN1 (74588281 - 74619214 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for DCTN1
         3 CNVs: 73999 50556 3366
         1 Indel: 59002
    Human Gene Mutation Database (HGMD): DCTN1

    Locus Specific Mutation Databases (LSDB): DCTN1

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    Disorders / Diseases
    for DCTN1 gene

    (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.)
    About This Section
    DCTN1 for disorders           About GeneDecksing

    OMIM gene information: 601143   
    OMIM disorders: 607641  105400  168605  
    UniProtKB/Swiss-Prot: DCTN1_HUMAN, Q14203
  • Defects in DCTN1 are the cause of distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641]; also
    • known as progressive lower motor neuron disease (PLMND). HMN7B is 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
  • Defects in DCTN1 are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a
    • neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory
    abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial,
    involving both genetic and environmental factors
  • Defects in DCTN1 are the cause of Perry syndrome (PERRYS) [MIM:168605]; also called parkinsonism with alveolar
    • hypoventilation and mental depression. Perry syndrome is 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

    20/35 diseases for DCTN1 (see all 35):    About MalaCards
    spinal-bulbar muscular atrophy    distal hereditary motor neuronopathy type viib    motor neuronopathy    muscular atrophy
    amyotrophic lateral sclerosis    limb-girdle muscular dystrophy    distal hereditary motor neuropathy    bardet-biedl syndrome
    miyoshi myopathy    amyotrophic lateral sclerosis (als)    lateral sclerosis    lower motor neuron disease
    motor neuron disease    perry syndrome    neuromuscular disease    muscular dystrophy
    alstrom syndrome    frontotemporal dementia    mental depression    retinitis pigmentosa

    1 disease from the University of Copenhagen DISEASES database for DCTN1:
    Amyotrophic lateral sclerosis

    5 Novoseek 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

    Publications
    for DCTN1 gene

    (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 153):
    (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. FBXL5 interacts with p150Glued and regulates its ubiquitination. (PubMed id 17532294)1, 2, 9 Zhang N.... Yao X. (2007)
    3. 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)
    4. 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)
    5. 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)
    6. Functionally distinct isoforms of dynactin are expressed in human neurons. (PubMed id 8856662)1, 2, 9 Tokito M.K.... Holzbaur E.L.F. (1996)
    7. 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)
    8. 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)
    9. Characterization of DCTN1 genetic variability in neur odegeneration. (PubMed id 19506225)1, 2 VilariA+o-GA1ell C....Farrer M.J. (2009)
    10. Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. (PubMed id 19279216)1, 2 Moore J.K....Cooper J.A. (2009)

    External Searches for DCTN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Free Text  
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    Genome Databases showing DCTN1 gene

    (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

    Other Databases showing DCTN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DCTN1 gene

    (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

    Intellectual Property
    for DCTN1 gene

    (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

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