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

Gene ID: 1778, updated on 3-Dec-2023

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
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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

Associated conditions

Description Tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
MedGen: C1834690 OMIM: 158600 GeneReviews: Not available
Compare labs
Charcot-Marie-Tooth disease axonal type 2O
MedGen: C3280220 OMIM: 614228 GeneReviews: Not available
Compare labs
Intellectual disability, autosomal dominant 13
MedGen: C3281202 OMIM: 614563 GeneReviews: Not available
Compare labs

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 intermediate chain binding IEA
Inferred from Electronic Annotation
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)

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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)