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

DYNC1H1 Gene

protein-coding   GIFtS: 64
GCID: GC14P102430

Dynein, Cytoplasmic 1, Heavy Chain 1

(Previous names: dynein, cytoplasmic, heavy polypeptide 1)
(Previous symbols: DNECL, DNCL, DNCH1)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Dynein, Cytoplasmic 1, Heavy Chain 11 2     DHC1a2
DNCL1 2 3 5     Dnchc12
DNECL1 2 3 5     HL-32
DNCH11 2 3     SMALED12
Dynein, Cytoplasmic, Heavy Polypeptide 11 2     Cytoplasmic Dynein 1 Heavy Chain 12
Dynein Heavy Chain, Cytosolic2 3     p222
DHC12 3     KIAA03253
DYHC2 3     Cytoplasmic Dynein Heavy Chain 13

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, autosomal dominant, and mental retardation, autosomal dominant 13, and among its related super-pathways are G2/M Transition and Cell Cycle, Mitotic. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DYNC1H1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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)
Subcellular location: Cytoplasm, cytoskeleton
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14204

  • DYNC1H1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DYNC1H1 Protein Expression
    REFSEQ proteins: NP_001367.2  
    ENSEMBL proteins: 
     ENSP00000348965   ENSP00000450674  
    Reactome Protein details: Q14204
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    Cloud-Clone Corp. Proteins for DYNC1H1 

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

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

    DYNC1H1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DYN: Cytoplasmic dyneins

    5/10 InterPro protein domains (see all 10):
     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


    DYNC1H1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003777microtubule motor activity NAS--
    GO:0005515protein binding IPI17043677
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
         
    DYNC1H1 for ontologies           About GeneDecksing


    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  mortality/aging  muscle  nervous system 
     reproductive system 

    DYNC1H1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dync1h1tm1Noh for DYNC1H1

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DYNC1H1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Cell cycle Spindle assembly and chromosome separation
    Cell cycle Spindle assembly and chromosome separation0.94
    5Regulation of degradation of wt-CFTR
    Regulation of degradation of deltaF508 CFTR in CF0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for DYNC1H1
        Cell cycle Spindle assembly and chromosome separation
    Cytoplasmic microtubules


    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

    5/11        Reactome Pathways for DYNC1H1 (see all 11)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    Adaptive Immune System
    G2/M Transition


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


    DYNC1H1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DYNC1H1

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

    5/1031 Interacting proteins for DYNC1H1 (Q142041, 2, 3 ENSP000003489654) via UniProtKB, MINT, STRING, and/or I2D (see all 1031)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    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:0007018microtubule-based movement NAS--
    GO:0007052mitotic spindle organization NAS8227145

    DYNC1H1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DYNC1H1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about DYNC1H1 / DYHC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/39 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 

    24/753 AceView cDNA sequences (see all 753):

    AA482514 AU140980 BF431636 W80389 CF995771 AI378410 AI139963 BQ573900 
    CF142609 BE787483 BQ438919 BQ723210 BC064521 AW197677 BQ009057 BU855851 
    BG762242 BQ720066 BX414467 CF136736 AU140723 AU140924 BQ636314 CA489563 

    GeneLoc Exon Structure

    5/18 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™, 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

    DYNC1H1 expression in normal human tissues (normalized intensities)      DYNC1H1 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             ganglion/cranial/facial VII   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Amnion (Extraembryonic Tissues)

    See DYNC1H1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DYNC1H1

    SOURCE GeneReport for Unigene cluster: Hs.614080
        SABiosciences Custom PCR Arrays 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)
    About This Section

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

    Orthologs for DYNC1H1 gene from 8/19 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 88.59(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 82.06(n)
    97.46(a)
      423461  XM_421371.3  XP_421371.3 
    lizard
    (Anolis carolinensis)
    Reptilia DYNC1H16
    Uncharacterized protein
    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 66.33(n)
    72.52(a)
      38580  NM_168103.2  NP_729034.2 
    worm
    (Caenorhabditis elegans)
    Secernentea dhc-11 Protein DHC-1 57.88(n)
    57.08(a)
      172041  NM_058962.3  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)
    About This Section
    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

    DYNC1H1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2248 SNPs in DYNC1H1 are shown (see all 2248)    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, autosomal dominant (SMALED)4--see VAR_0678222 Y C mis40--------
    VAR_0678204
    Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED)4--see VAR_0678202 I L mis40--------
    VAR_0666514
    Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED)4--see VAR_0666512 H R mis40--------
    VAR_0678214
    Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED)4--see VAR_0678212 K E mis40--------
    VAR_0650854
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0650852 H P mis40--------
    VAR_0678234
    Mental retardation, autosomal dominant 13 (MRD13)4--see VAR_0678232 E K mis40--------
    VAR_0694414
    ----see VAR_0694412 A S mis40--------
    VAR_0694434
    ----see VAR_0694432 I S mis40--------
    VAR_0694424
    ----see VAR_0694422 A T mis40--------
    VAR_0694384
    ----see VAR_0694382 V L 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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600112    OMIM disorders: --

    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 adaptative 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, autosomal dominant (SMALED) [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. SMALED 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

  • 20/24 diseases for DYNC1H1 (see all 24):    About MalaCards
    spinal muscular atrophy, lower extremity, autosomal dominant    mental retardation, autosomal dominant 13    charcot-marie-tooth neuropathy type 2o    charcot-marie-tooth neuropathy type 2
    charcot-marie-tooth disease type 2    spinal muscular atrophy    muscular atrophy    primary ciliary dyskinesia
    axonal neuropathy    charcot-marie-tooth neuropathy    charcot-marie-tooth disease    situs inversus
    tooth disease    lissencephaly    intellectual disability    peripheral neuropathy
    narcolepsy    neuropathy    lateral sclerosis    amyotrophic lateral sclerosis

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

    DYNC1H1 for disorders           About GeneDecksing


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

    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)
    About This Section

    PubMed articles for DYNC1H1 gene, integrated from 9 sources (see all 136):
    (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. (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. (2006)
    3. Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. (PubMed id 8227145)1, 2, 9 Vaisberg E.A.... McIntosh J.R. (1993)
    4. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. (PubMed id 22368300)1, 2 Willemsen M.H.... Kleefstra T. (2012)
    5. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. (PubMed id 22847149)1, 2 Tsurusaki Y....Matsumoto N. (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. (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. (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. (2010)
    9. Loci at chromosomes 13, 19 and 20 influence age at na tural menopause. (PubMed id 19448619)1, 4 Stolk L....Uitterlinden A.G. (2009)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1778 HGNC: 2961 AceView: DNCH1 Ensembl:ENSG00000197102 euGenes: HUgn1778
    ECgene: DYNC1H1 Kegg: 1778 H-InvDB: DYNC1H1

    (According to HUGE)
    About This Section
    HUGE: KIAA0325

    (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 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.)
    About This Section
    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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