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DYNC1H1 Gene

protein-coding   GIFtS: 66
GCID: GC14P102430

Dynein, Cytoplasmic 1, Heavy Chain 1

(Previous names: dynein, cytoplasmic, heavy polypeptide 1)
(Previous symbols: DNECL, DNCL, DNCH1)
  See DYNC1H1-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, Heavy Chain 11 2     DHC1a2
DNCL1 2 3 5     Dnchc12
DNECL1 2 3 5     HL-32
DNCH11 2 3     Cytoplasmic Dynein 1 Heavy Chain 12
Dynein, Cytoplasmic, Heavy Polypeptide 11 2     p222
Dynein Heavy Chain, Cytosolic2 3     KIAA03253
DHC12 3     Cytoplasmic Dynein Heavy Chain 13
DYHC2 3     CMT205
SMALED12 5     MRD135

External Ids:    HGNC: 29611   Entrez Gene: 17782   Ensembl: ENSG000001971027   OMIM: 6001125   UniProtKB: Q142043   

Export aliases for DYNC1H1 gene to outside databases

Previous GC identifers: GC14P101501 GC14P101502 GC14P082609


(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 DYNC1H1 Gene:
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two
subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility,
including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of
conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and
light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. (provided by RefSeq, Oct
2008)

GeneCards Summary for DYNC1H1 Gene:
DYNC1H1 (dynein, cytoplasmic 1, heavy chain 1) is a protein-coding gene. Diseases associated with DYNC1H1 include spinal muscular atrophy, lower extremity-predominant, ad, and spinal muscular atrophy, lower extremity, autosomal dominant. GO annotations related to this gene include microtubule motor activity and ATPase activity, coupled. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot: DYHC1_HUMAN, Q14204
Function: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and
organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur
on release of ADP

Gene Wiki entry for DYNC1H1 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_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the DYNC1H1 gene promoter:
         GR   Pbx1a   GR-beta   CBF-C   Arnt   CBF-B   CBF-A   CP1A   GR-alpha   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDYNC1H1 promoter sequence
   Search Chromatin IP Primers for DYNC1H1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DYNC1H1


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

Entrez Gene cytogenetic band: 14q32   Ensembl cytogenetic band:  14q32.31   HGNC cytogenetic band: 14q32.31

DYNC1H1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYNC1H1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P102430:  view genomic region     (about GC identifiers)

Start:
102,430,865 bp from pter      End:
102,517,135 bp from pter
Size:
86,271 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DYHC1_HUMAN, Q14204 (See protein sequence)
Recommended Name: Cytoplasmic dynein 1 heavy chain 1  
Size: 4646 amino acids; 532408 Da
Subunit: Homodimer. 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 dynein LCs assemble on the IC dimer. Interacts with DYNC1LI1; DYNC1LI1 and
DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1LI2; DYNC1LI1 and DYNC1LI2 bind mutually
exclusive to DYNC1H1. Interacts with DYNC1I2 (By similarity)
Sequence caution: Sequence=BAA20783.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for DYNC1H1:
2BOR (3D)        2BOT (3D)    
Secondary accessions: B0I1R0 Q6DKQ7 Q8WU28 Q92814 Q9Y4G5

Explore the universe of human proteins at neXtProt for DYNC1H1: NX_Q14204

Explore proteomics data for DYNC1H1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys67, Lys394, Lys652, Lys748, Lys754, Lys1347, Lys1371, Lys2068, Lys2074, Lys2856,
                                 Lys2879, Lys3190, Lys3369, Lys3581, Lys3621, Lys3757, Lys3774, Lys4237
  • Modification sites at PhosphoSitePlus

  • See DYNC1H1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001367.2  
    ENSEMBL proteins: 
     ENSP00000348965   ENSP00000450674  
    Reactome Protein details: Q14204

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    Cloud-Clone Corp. Proteins for DYNC1H1

     
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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:
    DYN: Cytoplasmic dyneins

    Selected InterPro protein domains (see all 9):
     IPR004273 Dynein_heavy_dom
     IPR011704 ATPase_dyneun-rel_AAA
     IPR013602 Dynein_heavy_dom-2
     IPR027417 P-loop_NTPase
     IPR013594 Dynein_heavy_dom-1

    Graphical View of Domain Structure for InterPro Entry Q14204

    ProtoNet protein and cluster: Q14204

    3 Blocks protein domains:
    IPB004273 Dynein heavy chain
    IPB011704 ATPase associated with various cellular activities
    IPB013594 Dynein heavy chain


    UniProtKB/Swiss-Prot: DYHC1_HUMAN, Q14204
    Domain: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other
    dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head,
    which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and
    AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not
    clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two
    non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes
    ATP, the others may serve a regulatory function
    Similarity: Belongs to the dynein heavy chain family


    Find genes that share domains with DYNC1H1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: DYHC1_HUMAN, Q14204
    Function: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and
    organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur
    on release of ADP

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding IPI17043677
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
         
    Find genes that share ontologies with DYNC1H1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for DYNC1H1:
     Increased G2M DNA content  Increased number of mitotic ce 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Dync1h1):
     behavior/neurological  growth/size/body  mortality/aging  muscle  nervous system 
     reproductive system 

    Find genes that share phenotypes with DYNC1H1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dync1h1tm1Noh for DYNC1H1

       genOway: Develop your customized and physiologically relevant rodent model for DYNC1H1

    miRNA
    Products:
        
    miRTarBase miRNAs that target DYNC1H1:
    hsa-mir-221-3p (MIRT046872), hsa-mir-455-3p (MIRT037838), hsa-let-7b-5p (MIRT052059), hsa-mir-149-5p (MIRT045390), hsa-mir-615-3p (MIRT040034), hsa-mir-92a-3p (MIRT049178), hsa-mir-96-5p (MIRT048724), hsa-mir-122-5p (MIRT023355)

    Block miRNA regulation of human, mouse, rat DYNC1H1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DYNC1H1:
    hsa-miR-4255
    SwitchGear 3'UTR luciferase reporter plasmidDYNC1H1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC1H1


    (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
    DYHC1_HUMAN, Q14204: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    cytosol4
    golgi apparatus4
    nucleus2
    endosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus ----
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0005868cytoplasmic dynein complex NAS8666668

    Find genes that share ontologies with DYNC1H1           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 DYNC1H1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation 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
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    3Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of deltaF508 CFTR in CF0.59
    4Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    5Cytoplasmic microtubules
    Cytoplasmic microtubules0.32


    Find genes that share SuperPaths with DYNC1H1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for DYNC1H1
        Cell cycle Spindle assembly and chromosome separation
    Regulation of degradation of deltaF508 CFTR in CF

    1 BioSystems Pathway for DYNC1H1
        Lissencephaly gene (LIS1) in neuronal migration and development

    5 Reactome Pathways for DYNC1H1
        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
    Loss of Nlp from mitotic centrosomes


    3 Kegg Pathways  (Kegg details for DYNC1H1):
        Phagosome
    Vasopressin-regulated water reabsorption
    Salmonella infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DYNC1H1
    Interactions:

        Search GeneGlobe Interaction Network for DYNC1H1

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

    Selected Interacting proteins for DYNC1H1 (Q142041, 2, 3 ENSP000003489654) via UniProtKB, MINT, STRING, and/or I2D (see all 1083)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4FP628053, ENSP000003669744I2D: score=4 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (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:0007018microtubule-based movement IEA--
    GO:0007052mitotic spindle organization NAS8227145

    Find genes that share ontologies with DYNC1H1           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 DYNC1H1 (DYHC1)

    1 Novoseek inferred chemical compound relationship for DYNC1H1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 23.7 2 11972777 (1), 12686593 (1)



    Find genes that share compounds with DYNC1H1           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 DYNC1H1 gene: 
    NM_001376.4  

    Unigene Cluster for DYNC1H1:

    Dynein, cytoplasmic 1, heavy chain 1
    Hs.614080  [show with all ESTs]
    Unigene Representative Sequence: NM_001376
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360184(uc001ykt.1 uc001yks.2) ENST00000555204 ENST00000554854
    ENST00000556791 ENST00000553423 ENST00000555800 ENST00000556139 ENST00000556499
    ENST00000555102 ENST00000556229 ENST00000555062
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate DYNC1H1:
    hsa-miR-4255
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB002323.3 AB290157.1 AF234785.1 AK023747.1 AK095415.1 AK096165.1 AK299878.1 AL833600.1 
    BC021297.1 BC064521.1 BX648670.1 L23958.1 U53530.1 U61737.1 

    Selected DOTS entries (see all 39):

    DT.447422  DT.75184647  DT.100031542  DT.99940286  DT.97821051  DT.99934863  DT.406169  DT.95362311 
    DT.120754891  DT.100031535  DT.91730917  DT.102836418  DT.319086  DT.75176618  DT.97761859  DT.92049623 
    DT.100878446  DT.120754954  DT.100726385  DT.120754887  DT.91881663  DT.100878454  DT.120754866  DT.120754874 

    Selected AceView cDNA sequences (see all 753):

    CF890831 AA306601 BQ009057 AB002323 CB156569 BF940018 AL707649 AA309515 
    AI751559 AW007391 CD654245 BE796275 BF333718 BQ939025 BX281821 BC064521 
    BQ637246 AW245203 AU140924 CA306725 AL710410 BM672077 BQ720066 BQ694008 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1H1 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b · 30c ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58a · 58b ^ 59 ^ 60 ^ 61a · 61b ^ 62 ^ 63a · 63b · 63c ^ 64a · 64b ^ 65 ^ 66 ^
    SP1:                                                                                            -     -                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 67 ^ 68 ^ 69 ^ 70 ^ 71a · 71b ^ 72 ^ 73 ^ 74 ^ 75 ^ 76 ^ 77a · 77b · 77c ^ 78a · 78b ^ 79 ^ 80 ^ 81 ^
    SP1:                                            -                       -     -                 -                     
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for DYNC1H1

    (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)
    About This Section

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    DYNC1H1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCGGCAAA
    DYNC1H1 Expression
    About this image


    DYNC1H1 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
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Amnion (Extraembryonic Tissues)
    DYNC1H1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DYNC1H1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.614080
        Custom PCR Arrays for DYNC1H1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DYNC1H1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC1H1

    (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 DYNC1H1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dync1h11 , 5 dynein cytoplasmic 1 heavy chain 11, 5 88.58(n)1
    99.2(a)1
      12 (60.70 cM)5
    134241  NM_030238.21  NP_084514.21 
     1106014525 
    chicken
    (Gallus gallus)
    Aves DYNC1H11 dynein, cytoplasmic 1, heavy chain 1 82.05(n)
    97.45(a)
      423461  XM_421371.3  XP_421371.3 
    lizard
    (Anolis carolinensis)
    Reptilia DYNC1H16
    dynein, cytoplasmic 1, heavy chain 1
    97(a)
    1 ↔ 1
    GL343232.1(1943433-2001780)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.20532 Xenopus laevis transcribed sequence with weak similarity to protein pirT34558 (H.sapiens) T34558 hypothetical protein DKFZp434H2450.1 - human (fragments) less 76.96(n)    CD328096.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570922832   -- 78.93(n)    57092283 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dhc64C1 Dynein heavy chain 64C 66.28(n)
    72.6(a)
      38580  NM_079205.4  NP_523929.2 
    worm
    (Caenorhabditis elegans)
    Secernentea dhc-11 dhc-1 58.09(n)
    57.46(a)
      172041  NM_058962.4  NP_491363.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DYN1(YKR054C)4 Cytoplasmic heavy chain dynein, microtubule motor protein, required for anaphase spindle elongation; involved in spindle assembly, chromosome movement, and spindle orientation during cell division, targeted to microtubule tips by Pac1p less   --   11(547925-535647) 853928  NP_012980.1 


    ENSEMBL Gene Tree for DYNC1H1 (if available)
    TreeFam Gene Tree for DYNC1H1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DYNC1H1 gene
    DNAH52  DNAH22  DNAH82  DYNC2H12  DNAH92  DNAH32  DNAH112  DNAH72  
    DNAH62  DNAH12  DNAH102  DNAH172  
    6 SIMAP similar genes for DYNC1H1 using alignment to 3 protein entries:     DYHC1_HUMAN (see all proteins):
    Dnchc1    DNAH5    Dnahc3    Dnahc9    Dnahc11    DNAH14

    Find genes that share paralogs with DYNC1H1           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 DYNC1H1 (see all 2255)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0678224
    Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1)4--see VAR_0678222 Y C mis40--------
    VAR_0705864
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0705862 R Q mis40--------
    VAR_0678204
    Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1)4--see VAR_0678202 I L mis40--------
    VAR_0678214
    Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1)4--see VAR_0678212 K E mis40--------
    VAR_0650854
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0650852 H P mis40--------
    VAR_0705874
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0705872 R Q mis40--------
    VAR_0705824
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0705822 R Q mis40--------
    VAR_0666514
    Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1)4--see VAR_0666512 H R mis40--------
    VAR_0705854
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0705852 K N mis40--------
    VAR_0705834
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0705832 R C mis40--------

    HapMap Linkage Disequilibrium report for DYNC1H1 (102430865 - 102517135 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DYNC1H1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749148CNV Deletion23290073
    nsv1427CNV Insertion18451855
    nsv832879CNV Loss17160897
    dgv25n68CNV Loss17160897
    nsv902254CNV Loss21882294

    Human Gene Mutation Database (HGMD): DYNC1H1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DYNC1H1
    DNA2.0 Custom Variant and Variant Library Synthesis for DYNC1H1

    (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

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    OMIM gene information: 600112   
    OMIM disorders: 614228  614563  158600  
    UniProtKB/Swiss-Prot: DYHC1_HUMAN, Q14204
  • Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]: An axonal form of Charcot-Marie-Tooth disease, a
    disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the
    peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic
    features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]: A form
    of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of
    the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness
    predominantly affecting the proximal lower extremities. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 8 diseases for DYNC1H1:    
    About MalaCards
    spinal muscular atrophy, lower extremity-predominant, ad    spinal muscular atrophy, lower extremity, autosomal dominant    mental retardation, autosomal dominant 13    charcot-marie-tooth disease, axonal, type 20
    charcot-marie-tooth neuropathy type 2o    mental retardation, autosomal dominant 10    spinal muscular atrophy    charcot-marie-tooth neuropathy type 2

    1 disease from the University of Copenhagen DISEASES database for DYNC1H1:
    Primary ciliary dyskinesia

    Find genes that share disorders with DYNC1H1           About GenesLikeMe

    1 Novoseek inferred disease relationship for DYNC1H1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurodegeneration 20.6 2 12730604 (1), 16546759 (1)

    Genetic Association Database (GAD): DYNC1H1
    Human Genome Epidemiology (HuGE) Navigator: DYNC1H1 (2 documents)

    Export disorders for DYNC1H1 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 DYNC1H1 gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with DYNC1H1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PubMed id 8666668)1, 2, 3 Vaisberg E.A.... McIntosh J.R. (J. Cell Biol. 1996)
    2. No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach. (PubMed id 16546759)1, 4, 9 Shah P.R....Fisher E.M. (Amyotroph Lateral Scler 2006)
    3. Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. (PubMed id 8227145)1, 2, 9 Vaisberg E.A.... McIntosh J.R. (J. Cell Biol. 1993)
    4. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. (PubMed id 22368300)1, 2 Willemsen M.H.... Kleefstra T. (J. Med. Genet. 2012)
    5. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. (PubMed id 22847149)1, 2 Tsurusaki Y....Matsumoto N. (Neurogenetics 2012)
    6. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. (PubMed id 22459677)1, 2 Harms M.B....Baloh R.H. (Neurology 2012)
    7. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. (PubMed id 21820100)1, 2 Weedon M.N....Ellard S. (Am. J. Hum. Genet. 2011)
    8. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    9. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. (PubMed id 19448619)1, 4 Stolk L....Uitterlinden A.G. (Nat. Genet. 2009)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (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: 1778 HGNC: 2961 AceView: DNCH1 Ensembl:ENSG00000197102 euGenes: HUgn1778
    ECgene: DYNC1H1 Kegg: 1778 H-InvDB: DYNC1H1

    (According to HUGE)
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    HUGE: KIAA0325

    (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 DYNC1H1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/dnch1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DYNC1H1 gene:
    Search GeneIP for patents involving DYNC1H1

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



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