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    DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 [ Homo sapiens ]

    Gene ID: 1778, updated on 14-May-2012
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    Summary

    Official Symbol
    DYNC1H1provided by HGNC
    Official Full Name
    dynein, cytoplasmic 1, heavy chain 1provided by HGNC
    Primary source
    HGNC:2961
    See related
    Ensembl:ENSG00000197102; HPRD:02524; MIM:600112; Vega:OTTHUMG00000171644
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p22; DHC1; DNCL; DYHC; HL-3; CMT20; DHC1a; DNCH1; DNECL; MRD13; Dnchc1; SMALED; KIAA0325; DKFZp686P2245
    Summary
    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]
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    Genomic context

    Location :
    14q32
    Sequence :
    Chromosome: 14; NC_000014.8 (102430865..102517135)
    See DYNC1H1 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2, regulatory subunit B', gamma Neighboring gene uncharacterized LOC100653021 Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 20 Neighboring gene heat shock protein 90kDa alpha (cytosolic), class A member 1 Neighboring gene WD repeat domain 20

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Multiple modes of cytoplasmic dynein regulation. Vallee RB, et al. Nat Cell Biol, 2012 Feb 29. PMID 22373868.
    2. Identification of ubiquitinated proteins from human multiple myeloma U266 cells by proteomics. Jia H, et al. Biomed Environ Sci, 2011 Aug. PMID 22108332.
    3. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.

    See all (56) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Studies indicate that binding of dynactin, LIS1 and NudEL regulate cytoplasmic dynein motor activity.
      Title: Multiple modes of cytoplasmic dynein regulation.
    2. Exome sequencing of three affected individuals separated by eight meioses identified a single shared novel heterozygous variant, c.917A>G, in DYNC1H1, which encodes the cytoplasmic dynein heavy chain 1.
      Title: Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
    3. In an in vitro MT gliding assay, both dynein-1 and dynein-2 showed minus-end-directed motor activities.
      Title: Recombinant human cytoplasmic dynein heavy chain 1 and 2: observation of dynein-2 motor activity in vitro.
    4. these results suggest that complexes of dynein, Lis1 and CLIP-170 crosslink and slide microtubules within the spindle, thereby producing an inward force that pulls centrosomes together.
      Title: Dynein, Lis1 and CLIP-170 counteract Eg5-dependent centrosome separation during bipolar spindle assembly.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    6. mediates the perinuclear aggregation of phagocytosed melanosomes, participates in the formation of the supranuclear melanin cap or "microparasol" and serves as a mechanism to help protect the nucleus from ultraviolet-induced DNA damage.
      Title: Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Charcot-Marie-Tooth disease, axonal, type 20

    Loci at chromosomes 13, 19 and 20 influence age at natural menopause.

    Mental retardation, autosomal dominant 13

    Spinal muscular atrophy, lower extremity, autosomal dominant

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q14204 P63167 DYNLL1    HPRD  PubMed  
    Q14204 Q9GZM8 NDEL1    HPRD  PubMed  
    Q14204 Q15796 SMAD2    HPRD  PubMed  
    Q14204 P61981 YWHAG    HPRD  PubMed  
    BioGRID:108117 BioGRID:106877 ARF6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:116891 BICD2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:121015 C20orf24    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:107424 CDC5L    BioGRID  PubMed Affinity Capture-MS; Co-purification 
    BioGRID:108117 BioGRID:107843 CSNK2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108117 BioGRID:198624 Cdk1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:217741 Ckap5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:108007 DCTN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108117 BioGRID:118061 DISC1    BioGRID  PubMed Two-hybrid 
    BioGRID:108117 BioGRID:199254 Dync1h1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:199256 Dync1i2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:207994 Dynll1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:108276 EGFR    BioGRID  PubMed PCA 
    BioGRID:108117 BioGRID:108349 EPB41    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108117 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:123527 NDEL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108117 BioGRID:110895 NME2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:111085 PAFAH1B1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108117 BioGRID:112171 RYK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:116983 SIRT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:112512 SNRPB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:116734 SPG20    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:116682 TNIK    BioGRID  PubMed Two-hybrid 
    BioGRID:108117 BioGRID:108193 TOR1A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:114374 TSC22D1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:222149 Tubg1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108117 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the DYNC1H1 gene: The DYNC1H1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, , N.crassa, and P.falciparum.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Centrosome maturation, organism-specific biosystem (from REACTOME)
      Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
    • G2/M Transition, organism-specific biosystem (from REACTOME)
      G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
    • Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem (from Pathway Interaction Database)
      Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem
      Lissencephaly gene (LIS1) in neuronal migration and development
    • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
      Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
    • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
      Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
    • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
      Mitotic G2-G2/M phases, organism-specific biosystem
      Mitotic G2-G2/M phases
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
      Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    ATPase activity, coupled NAS
    Non-traceable Author Statement
    more info
    		  
    microtubule motor activity NAS
    Non-traceable Author Statement
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    G2/M transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    cytoplasmic mRNA processing body assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microtubule-based movement NAS
    Non-traceable Author Statement
    more info
    		  
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    mitotic spindle organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    stress granule assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasmic dynein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    cytoplasmic dynein 1 heavy chain 1
    Names
    cytoplasmic dynein 1 heavy chain 1
    dynein heavy chain, cytosolic
    cytoplasmic dynein heavy chain 1
    dynein, cytoplasmic, heavy polypeptide 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008777.1 RefSeqGene

      Range
      5001..91271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001376.4 → NP_001367.2  cytoplasmic dynein 1 heavy chain 1

      Status: REVIEWED

      Source sequence(s)
      AB002323, AB290157, DB508175
      Consensus CDS
      CCDS9966.1
      UniProtKB/Swiss-Prot
      Q14204
      Related
      ENSP00000348965, OTTHUMP00000246649, ENST00000360184, OTTHUMT00000414574
      Conserved Domains (8) summary
      COG5245
      Location:1046 – 3840
      Blast Score: 2830
      DYN1; Dynein, heavy chain [Cytoskeleton]
      cd00009
      Location:2570 – 2733
      Blast Score: 156
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      pfam03028
      Location:3915 – 4645
      Blast Score: 2193
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:238 – 834
      Blast Score: 1589
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam12777
      Location:3201 – 3528
      Blast Score: 393
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3562 – 3780
      Blast Score: 394
      AAA_9; ATP-binding dynein motor region D5
      pfam13666
      Location:1189 – 1307
      Blast Score: 277
      DUF4151; Domain of unknown function (DUF4151)
      cl09099
      Location:2219 – 2359
      Blast Score: 169
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      102430865..102517135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      82609802..82696060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL118558.6 (92476..178626) None
    genomic AY682080.1 AAT74625.1
    genomic CH471061.1 EAW81759.1
      EAW81760.1
      EAW81761.1
      EAW81762.1
      EAW81763.1
      EAW81764.1
    mRNA AB002323.3 BAA20783.3
    mRNA AB290157.1 BAG06711.1
    mRNA AF234785.1 AAF35913.1
    mRNA AI241115.1 None
    mRNA AI302138.1 None
    mRNA AK023747.1 None
    mRNA AK095415.1 None
    mRNA AK299878.1 BAG61728.1
    mRNA AL833600.1 None
    mRNA BC021297.1 AAH21297.2
    mRNA BC064521.1 AAH64521.1
    mRNA BM976324.1 None
    mRNA BP871545.2 None
    mRNA BX648670.1 None
    mRNA DB508175.2 None
    mRNA L23958.1 AAA16065.1
    mRNA U53530.1 AAB09727.1
    mRNA U61737.1 AAC50701.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14204.5 GenPept UniProtKB/Swiss-Prot:Q14204
    Q6P2H7 GenPept UniProtKB/TrEMBL:Q6P2H7
    Q92862 GenPept UniProtKB/TrEMBL:Q92862
    Q9NRC3 GenPept UniProtKB/TrEMBL:Q9NRC3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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