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DYNC1I1 Gene

protein-coding   GIFtS: 60
GCID: GC07P095401

Dynein, Cytoplasmic 1, Intermediate Chain 1

(Previous names: dynein, cytoplasmic, intermediate polypeptide 1)
(Previous symbol: DNCI1)
  See 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
Dynein, Cytoplasmic 1, Intermediate Chain 11 2     Dynein Intermediate Chain 1, Cytosolic2 3
DNCI11 2 3 5     DNCIC12 3
Dynein, Cytoplasmic, Intermediate Polypeptide 11 2     DH IC-12 3
Cytoplasmic Dynein Intermediate Chain 12 3     Cytoplasmic Dynein 1 Intermediate Chain 12

External Ids:    HGNC: 29631   Entrez Gene: 17802   Ensembl: ENSG000001585607   OMIM: 6037725   UniProtKB: O145763   

Export aliases for DYNC1I1 gene to outside databases

Previous GC identifers: GC07P095047 GC07P095239 GC07P090008


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DYNC1I1 Gene:
DYNC1I1 (dynein, cytoplasmic 1, intermediate chain 1) is a protein-coding gene. Diseases associated with DYNC1I1 include smallpox, and obesity. GO annotations related to this gene include microtubule binding and motor activity. An important paralog of this gene is DNAI1.

UniProtKB/Swiss-Prot: DC1I1_HUMAN, O14576
Function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are
thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function.
Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along
microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component
(p150-glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles
and kinetochores

Gene Wiki entry for DYNC1I1 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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DYNC1I1 gene promoter:
         Brachyury   Pax-2   FOXO3   Pax-2a   IRF-1   Egr-4   FOXO3b   FOXO3a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DYNC1I1 promoter sequence
   Search Chromatin IP Primers for DYNC1I1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DYNC1I1


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

Entrez Gene cytogenetic band: 7q21.3-q22.1   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3-q22.1

DYNC1I1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYNC1I1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P095401:  view genomic region     (about GC identifiers)

Start:
95,401,818 bp from pter      End:
95,739,634 bp from pter
Size:
337,817 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 94,730,870-95,056,794     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DC1I1_HUMAN, O14576 (See protein sequence)
Recommended Name: Cytoplasmic dynein 1 intermediate chain 1  
Size: 645 amino acids; 72955 Da
Subunit: Homodimer (By similarity). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs)
and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs)
and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy
chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic
subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Interacts with
DYNC1H1. Interacts with DYNLT1 and DYNLT3. Interacts with DCNT1 (By similarity)
Secondary accessions: Q9Y2X1
Alternative splicing: 3 isoforms:  O14576-1   O14576-2   O14576-3   

Explore the universe of human proteins at neXtProt for DYNC1I1: NX_O14576

Explore proteomics data for DYNC1I1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DYNC1I1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001129028.1  NP_001129029.1  NP_001265350.1  NP_001265351.1  NP_004402.1  

    ENSEMBL proteins: 
     ENSP00000392337   ENSP00000428934   ENSP00000320130   ENSP00000398118   ENSP00000352348  
     ENSP00000411957   ENSP00000428273   ENSP00000412444   ENSP00000438377  
    Reactome Protein details: O14576

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing
    DYN: Cytoplasmic dyneins

    4 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR025956 Dynein_IC_1/2
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry O14576

    ProtoNet protein and cluster: O14576

    UniProtKB/Swiss-Prot: DC1I1_HUMAN, O14576
    Similarity: Belongs to the dynein intermediate chain family
    Similarity: Contains 7 WD repeats


    DYNC1I1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DC1I1_HUMAN, O14576
    Function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are
    thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function.
    Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along
    microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component
    (p150-glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles
    and kinetochores

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity TAS10049579
    GO:0003777microtubule motor activity ISS--
    GO:0005515protein binding IPI14985359
    GO:0008017microtubule binding ISS--
         
    DYNC1I1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DYNC1I1:
     Decreased Hepatitis C virus re  Decreased influenza A virus in 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Dync1i1):
     no phenotypic analysis 

    DYNC1I1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DYNC1I1
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    miRNA
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    miRTarBase miRNAs that target DYNC1I1:
    hsa-mir-335-5p (MIRT016726)

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    8 qRT-PCR Assays for microRNAs that regulate DYNC1I1:
    hsa-miR-3671 hsa-miR-607 hsa-miR-328 hsa-miR-3914 hsa-miR-1291 hsa-miR-1244 hsa-miR-155 hsa-miR-3126-3p
    SwitchGear 3'UTR luciferase reporter plasmidDYNC1I1 3' UTR sequence
    Inhib. RNA
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    (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
    DC1I1_HUMAN, O14576: Cytoplasm (By similarity). Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton,
    spindle pole
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore IDA19229290
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0000922spindle pole IDA19229290
    GO:0005829cytosol TAS--
    GO:0005868cytoplasmic dynein complex ISS--

    DYNC1I1 for ontologies           About GeneDecksing


    (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 DYNC1I1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    3Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    4Salmonella infection (KEGG)
    Salmonella infection0.30
    5Vasopressin-regulated water reabsorption
    Vasopressin-regulated water reabsorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for DYNC1I1
        Cell cycle Spindle assembly and chromosome separation
    Regulation of degradation of deltaF508 CFTR in CF


    1 Reactome Pathway for DYNC1I1
        MHC class II antigen presentation


    3 Kegg Pathways  (Kegg details for DYNC1I1):
        Phagosome
    Vasopressin-regulated water reabsorption
    Salmonella infection


    DYNC1I1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DYNC1I1
    Interactions:

        Search GeneGlobe Interaction Network for DYNC1I1

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

    Selected Interacting proteins for DYNC1I1 (O145761, 2, 3 ENSP000003201304) via UniProtKB, MINT, STRING, and/or I2D (see all 147)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCTN1Q142032, 3, ENSP000003547914MINT-7899583 MINT-4049943 MINT-7899565 MINT-8254844 I2D: score=2 STRING: ENSP00000354791
    SMN1Q166372, 3MINT-8271080 I2D: score=2 
    SMN2Q166372, 3MINT-8271080 I2D: score=2 
    GSK3BP498412, 3, ENSP000003248064MINT-4049943 I2D: score=1 STRING: ENSP00000324806
    TP53P046372, 3, ENSP000002693054MINT-1891331 I2D: score=1 STRING: ENSP00000269305
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement ----
    GO:0008152metabolic process TAS10049579
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--
    GO:0047496vesicle transport along microtubule ISS--

    DYNC1I1 for ontologies           About GeneDecksing



    (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 DYNC1I1 (DC1I1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DYNC1I1 gene (5 alternative transcripts): 
    NM_001135556.1  NM_001135557.1  NM_001278421.1  NM_001278422.1  NM_004411.4  

    Unigene Cluster for DYNC1I1:

    Dynein, cytoplasmic 1, intermediate chain 1
    Hs.440364  [show with all ESTs]
    Unigene Representative Sequence: NM_004411
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447467(uc003uod.4 uc003uob.3 uc010lfl.3) ENST00000524053
    ENST00000324972(uc003uoc.4) ENST00000437599(uc003uoe.4) ENST00000359388
    ENST00000413338 ENST00000518089 ENST00000457059 ENST00000519371 ENST00000497626
    ENST00000537881
    miRNA
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    hsa-miR-3671 hsa-miR-607 hsa-miR-328 hsa-miR-3914 hsa-miR-1291 hsa-miR-1244 hsa-miR-155 hsa-miR-3126-3p
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    Additional mRNA sequence: 

    AF063228.1 AF123074.1 AK091339.1 AK297427.1 AK309419.1 AK313148.1 BC012504.1 BC022540.1 
    BC032945.2 BC037854.1 BC053542.1 

    13 DOTS entries:

    DT.95366249  DT.100022912  DT.311446  DT.100780212  DT.40121523  DT.95105413  DT.95366303  DT.100780213 
    DT.121066010  DT.121066044  DT.121066067  DT.121066097  DT.99992389 

    Selected AceView cDNA sequences (see all 111):

    AW160882 AI917122 AK091339 F03883 CD676444 AL119852 BU733433 AI810807 
    AW498813 CD676815 CB156258 BQ003509 AW512007 F01454 AI702010 H96244 
    AI631131 BE671718 AA370850 Z40531 CB155827 AI923516 F05202 BM715981 

    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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    DYNC1I1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATCTTTAG
    DYNC1I1 Expression
    About this image


    DYNC1I1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
             HyStem+BMP4-induced MEL2 cells
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
    DYNC1I1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DYNC1I1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440364
        Custom PCR Arrays for DYNC1I1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC1I1

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

    Orthologs for DYNC1I1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dync1i11 , 5 dynein cytoplasmic 1 intermediate chain 11, 5 91.3(n)1
    98.09(a)1
      6 (2.26 cM)5
    134261  NM_010063.41  NP_034193.21 
     57256395 
    chicken
    (Gallus gallus)
    Aves DYNC1I11 dynein, cytoplasmic 1, intermediate chain 1 83.89(n)
    95.68(a)
      420571  XM_004939313.1  XP_004939370.1 
    lizard
    (Anolis carolinensis)
    Reptilia DYNC1I16
    dynein, cytoplasmic 1, intermediate chain 1
    96(a)
    1 ↔ 1
    6(22623203-22832757)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dync1i11 dynein, cytoplasmic 1, intermediate chain 1 78.22(n)
    89.46(a)
      100127187  NM_001112911.1  NP_001106382.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dync1i11 dynein, cytoplasmic 1, intermediate chain 1 73.79(n)
    79.11(a)
      561525  NM_001079990.1  NP_001073459.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sdic46
    Sdic26
    (see all 5)
    Sperm-specific dynein intermediate chain 2
    (see all 5)
    53(a)
    53(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    X(20091160-20096107)
    X(20076060-20080509)
    worm
    (Caenorhabditis elegans)
    Secernentea dyci-16
    Protein DYCI-1 (dyci-1) mRNA, complete cds
    36(a)
    1 → many
    IV(6779862-6784340) WBGene00015927


    ENSEMBL Gene Tree for DYNC1I1 (if available)
    TreeFam Gene Tree for DYNC1I1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DYNC1I1 gene
    DNAI12  WDR342  DYNC1I22  WDR782  
    3 SIMAP similar genes for DYNC1I1 using alignment to 10 protein entries:     DC1I1_HUMAN (see all proteins):
    DNCI1    DNCI2    DYNC1I2

    DYNC1I1 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), 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 DYNC1I1 (see all 6075)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350268041,2
    C--95040294(+) AAAAA-/A/AA  
            
    TCTCT
    3 -- int11NA 2
    rs1409511901,2
    --95399883(+) ACACTC/GGTGAG 3 -- us2k10--------
    rs1911849061,2
    --95399912(+) GCCTCC/TGCCCC 3 -- us2k10--------
    rs1833577601,2
    --95399975(+) TACTTC/TGTGGG 3 -- us2k10--------
    rs1157004591,2
    F--95399976(+) ACTTCG/ATGGGC 3 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1999844161,2
    C--95400057(+) GGCAGG/TCAGAT 3 -- us2k10--------
    rs1467278951,2
    --95400140(+) TTAGCC/TGGGCT 3 -- us2k10--------
    rs1403693471,2
    --95400173(+) TAGCTA/GCTCAG 3 -- us2k10--------
    rs77960391,2
    C,F--95400211(+) cccagG/Cagatg 3 -- us2k16Minor allele frequency- C:0.50NA CSA 12
    rs1876081901,2
    --95400259(+) AGCCTA/GGGCAT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for DYNC1I1 (95401818 - 95651818 bp, first 250kb of DYNC1I1)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for DYNC1I1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734849CNV Deletion23290073
    esv270373CNV Insertion20981092
    nsv5852CNV Insertion18451855
    nsv5856CNV Insertion18451855
    nsv527504CNV Gain19592680
    esv274966CNV Gain+Loss21479260

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DYNC1I1
    DNA2.0 Custom Variant and Variant Library Synthesis for DYNC1I1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603772    OMIM disorders: --

    6 diseases for DYNC1I1:    
    About MalaCards
    smallpox    obesity    hepatocellular carcinoma    cerebritis
    endotheliitis    neuronitis


    DYNC1I1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DYNC1I1
    Human Genome Epidemiology (HuGE) Navigator: DYNC1I1 (2 documents)

    Export disorders for DYNC1I1 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 DYNC1I1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with DYNC1I1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. (PubMed id 10049579)1, 2, 3 Crackower M.A.... Tsui L.-C. (Genomics 1999)
    2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    3. Dynein light intermediate chain 1 is required for progress through the spindle assembly checkpoint. (PubMed id 19229290)1, 2 Sivaram M.V.... Doxsey S.J. (EMBO J. 2009)
    4. Cytoplasmic dynein nomenclature. (PubMed id 16260502)1, 3 Pfister K.K....Vallee R.B. (J. Cell Biol. 2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    7. Dynein interacts with the neural cell adhesion molecule (NCAM180) to tether dynamic microtubules and maintain synaptic density in cortical neurons. (PubMed id 23960070)1 Perlson E....Holzbaur E.L. (J. Biol. Chem. 2013)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    9. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
    10. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)2 Varela I....Futreal P.A. (Nature 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1780 HGNC: 2963 AceView: DNCI1 Ensembl:ENSG00000158560 euGenes: HUgn1780
    ECgene: DYNC1I1 Kegg: 1780 H-InvDB: DYNC1I1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for DYNC1I1 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 DYNC1I1 gene:
    Search GeneIP for patents involving DYNC1I1

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



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