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    DYNC1H1 dynein cytoplasmic 1 heavy chain 1 [ Homo sapiens (human) ]

    Gene ID: 1778, updated on 5-May-2024

    Summary

    Official Symbol
    DYNC1H1provided by HGNC
    Official Full Name
    dynein cytoplasmic 1 heavy chain 1provided by HGNC
    Primary source
    HGNC:HGNC:2961
    See related
    Ensembl:ENSG00000197102 MIM:600112; AllianceGenome:HGNC:2961
    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; CMT2O; DHC1a; DNCH1; DNECL; Dnchc1; CDCBM13; SMALED1
    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]
    Expression
    Ubiquitous expression in brain (RPKM 38.0), skin (RPKM 23.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DYNC1H1 in Genome Data Viewer
    Location:
    14q32.31
    Exon count:
    78
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (101964573..102056443)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (96200188..96292054)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (102430910..102522780)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 regulatory subunit B'gamma Neighboring gene uncharacterized LOC124903388 Neighboring gene Sharpr-MPRA regulatory region 9024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:102276373-102276955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9048 Neighboring gene RNA, U6 small nuclear 790, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102299052-102299552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9055 Neighboring gene nucleophosmin 1 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9057 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:102383507-102384162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102394426-102394926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102394927-102395427 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:102411293-102411954 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:102411955-102412614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102413937-102414598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9059 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:102427622-102427798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9061 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102430647-102431257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102431258-102431867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102436952-102437452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9064 Neighboring gene NANOG hESC enhancer GRCh37_chr14:102474230-102474777 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:102493659-102494858 Neighboring gene uncharacterized LOC107984661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102515797-102516781 Neighboring gene Sharpr-MPRA regulatory region 9666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102522673-102523378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:102523379-102524082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:102530418-102531305 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:102550057-102551256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6109 Neighboring gene RNA, 7SL, cytoplasmic 472, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6110 Neighboring gene heat shock protein 90 alpha family class A member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:102605474-102605669 Neighboring gene WD repeat domain 20

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2023-11-14)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2023-11-14)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
    EBI GWAS Catalog

    HIV-1 interactions

    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
    Knockdown of dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag SiRNA-mediated depletion of the dynein heavy chain leads to a marked relocalization of vRNA and viral structural protein Gag to the cell periphery with late endosomes and a several fold increase in HIV-1 production PubMed
    Rev rev HIV-1 Rev interacting protein, dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
    Vpr vpr HIV-1 Vpr relocalizes DYNC1H1 (DHC) in transfected HeLa cells PubMed
    vpr HIV-1 Vpr is identified to have a physical interaction with dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) in human HEK293, HeLa and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    vpr HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of DYNC1H1 increases the amount of HIV-1 p24 associated with Vpr-associated cytoplasmic virions PubMed
    capsid gag HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of DYNC1H1 increases the amount of HIV-1 p24 associated with cytoplasmic virions PubMed
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0325, DKFZp686P2245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein light intermediate chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to minus-end-directed microtubule motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in P-body assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of spindle localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic spindle organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in nuclear migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of intracellular transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of metaphase plate congression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retrograde axonal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in stress granule assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cytoplasmic dynein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of dynein complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cytoplasmic dynein 1 heavy chain 1
    Names
    dynein heavy chain, cytosolic
    dynein, cytoplasmic, heavy polypeptide 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001376.5NP_001367.2  cytoplasmic dynein 1 heavy chain 1

      See identical proteins and their annotated locations for NP_001367.2

      Status: REVIEWED

      Source sequence(s)
      AB002323, AB290157, AL118558, DB508175
      Consensus CDS
      CCDS9966.1
      UniProtKB/Swiss-Prot
      B0I1R0, Q14204, Q6DKQ7, Q8WU28, Q92814, Q9Y4G5
      UniProtKB/TrEMBL
      A0A2R8Y5T0
      Related
      ENSP00000348965.4, ENST00000360184.10
      Conserved Domains (3) summary
      COG5245
      Location:10464329
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:242832
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam18199
      Location:43334644
      Dynein_C; Dynein heavy chain C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      101964573..102056443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      96200188..96292054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)