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    DYNC2H1 dynein cytoplasmic 2 heavy chain 1 [ Homo sapiens (human) ]

    Gene ID: 79659, updated on 8-Apr-2018
    Official Symbol
    DYNC2H1provided by HGNC
    Official Full Name
    dynein cytoplasmic 2 heavy chain 1provided by HGNC
    Primary source
    HGNC:HGNC:2962
    See related
    Ensembl:ENSG00000187240 MIM:603297; Vega:OTTHUMG00000165941
    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
    ATD3; DHC2; DHC1b; DNCH2; DYH1B; SRTD3; SRPS2B; hdhc11
    Summary
    This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
    Expression
    Broad expression in testis (RPKM 4.1), thyroid (RPKM 3.0) and 23 other tissues See more
    Orthologs
    Location:
    11q22.3
    Exon count:
    90
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (103109431..103479863)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102980160..103350591)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 96 Neighboring gene defective in cullin neddylation 1 domain containing 5 Neighboring gene mitochondrially encoded ATP synthase 6 pseudogene 15 Neighboring gene mitochondrially encoded cytochrome c oxidase III pseudogene 15 Neighboring gene mitochondrially encoded cytochrome c oxidase II pseudogene 15 Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 15 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 26 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 36 Neighboring gene uncharacterized LOC105369463 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 pseudogene Neighboring gene uncharacterized LOC102723862 Neighboring gene microRNA 4693

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    NHGRI GWA Catalog
    Genome-wide association study of selenium concentrations.
    NHGRI GWA Catalog
    Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Dynein heavy chain knockdown by siRNA enhances HIV-1 infectivity in TRIMCyp-expressing HeLa cells but not in TRIMCyp-expressing owl monkey cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag HIV-1 CA uncoating is delayed in the presence of ciliobrevin D, a specific inhibitor of dynein-mediated motor function, indicating that dynein is involved in CA uncoating in cells PubMed
    gag Dynein heavy chain depletion causes the accumulation of HIV-1 CA cores in infected cells and relocates their subcellular distribution from the vicinity of the nucleus to the cell periphery PubMed
    reverse transcriptase gag-pol Dynein heavy chain (DHC) depletion causes reduced levels of HIV-1 reverse transcribed DNA in infected cells, suggesting RT activity is regulated by DHC PubMed

    Go to the HIV-1, Human Interaction Database

    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Intraflagellar transport, organism-specific biosystem (from REACTOME)
      Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • 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...
    • 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...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11756

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent microtubule motor activity, minus-end-directed IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to ATP-dependent microtubule motor activity, minus-end-directed IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    dynein light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    Golgi organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    intraciliary transport involved in cilium assembly TAS
    Traceable Author Statement
    more info
     
    microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
     
    protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ciliary tip TAS
    Traceable Author Statement
    more info
     
    cilium TAS
    Traceable Author Statement
    more info
     
    cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular exosome HDA PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cytoplasmic dynein 2 heavy chain 1
    Names
    dynein cytoplasmic heavy chain 2
    dynein heavy chain 11
    dynein heavy chain, isotype 1B
    dynein, cytoplasmic, heavy polypeptide 2

    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_016423.1 RefSeqGene

      Range
      5001..375432
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080463.1NP_001073932.1  cytoplasmic dynein 2 heavy chain 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AP000817, AP001486, AP002829, AP002961, AP003382, AP003461
      Consensus CDS
      CCDS44717.1
      UniProtKB/Swiss-Prot
      Q8NCM8
      Related
      ENSP00000381167.3, OTTHUMP00000231584, ENST00000398093.7, OTTHUMT00000387198
      Conserved Domains (7) summary
      pfam03028
      Location:36224303
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam07728
      Location:19742110
      AAA_5; AAA domain (dynein-related subfamily)
      pfam08385
      Location:162639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:11201519
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:28973229
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:32533474
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:16511881
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001377.2NP_001368.2  cytoplasmic dynein 2 heavy chain 1 isoform 1

      See identical proteins and their annotated locations for NP_001368.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the 3' coding region, compared to variant 2. This results in a protein (isoform 1) that is seven aa shorter than isoform 2.
      Source sequence(s)
      AP000817, AP001486, AP002829, AP002961, AP003382, AP003461
      Consensus CDS
      CCDS53701.1
      UniProtKB/Swiss-Prot
      Q8NCM8
      Related
      ENSP00000364887.2, OTTHUMP00000231582, ENST00000375735.6, OTTHUMT00000387196
      Conserved Domains (7) summary
      pfam03028
      Location:36154296
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam07728
      Location:19742110
      AAA_5; AAA domain (dynein-related subfamily)
      pfam08385
      Location:162639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:11201519
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:28973229
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:32533467
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:16511881
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      103109431..103479863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018291.1XP_016873780.1  cytoplasmic dynein 2 heavy chain 1 isoform X2

    2. XM_006718903.2XP_006718966.1  cytoplasmic dynein 2 heavy chain 1 isoform X1

      Conserved Domains (7) summary
      pfam03028
      Location:36084289
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam07728
      Location:19742110
      AAA_5; AAA domain (dynein-related subfamily)
      pfam08385
      Location:162639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:11201519
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:28903222
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:32463460
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:16511881
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. XM_017018293.1XP_016873782.1  cytoplasmic dynein 2 heavy chain 1 isoform X4

    4. XM_017018292.1XP_016873781.1  cytoplasmic dynein 2 heavy chain 1 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024606.2: Suppressed sequence

      Description
      NM_024606.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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