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

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: mouse all
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Genomic context

Location:: 14q32.31

Exon count:: 78

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (101964573..102056443)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (96200188..96292054)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (102430910..102522780)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.
Title: Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Title: DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Title: DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Title: Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
Title: [Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis.
Title: A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis.
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Title: De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.
Title: A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.
Two cases of DYNC1H1 mutations with intractable epilepsy.
Title: Two cases of DYNC1H1 mutations with intractable epilepsy.
Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients.
Title: Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MedGen: C5780022 OMIM: 158600 GeneReviews: DYNC1H1-Related Disorders	Compare labs
Charcot-Marie-Tooth disease axonal type 2O MedGen: C3280220 OMIM: 614228 GeneReviews: DYNC1H1-Related Disorders	Compare labs
Intellectual disability, autosomal dominant 13 MedGen: C3281202 OMIM: 614563 GeneReviews: DYNC1H1-Related Disorders	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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH146 (e-PCR)
- UniSTS:59398

RH36371 (e-PCR)
- UniSTS:26637

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

D11S2560 (e-PCR)
- UniSTS:37928

IB1673 (e-PCR)
- UniSTS:66347

D8S2279 (e-PCR)
- UniSTS:473907

A008V18 (e-PCR)
- UniSTS:40767

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D13S1553 (e-PCR)
- UniSTS:473482

L17809 (e-PCR)
- UniSTS:39087

WI-20030 (e-PCR)
- UniSTS:23732

GDB:335751 (e-PCR)
- UniSTS:156601

G19930 (e-PCR)
- UniSTS:3543

A002C27 (e-PCR)
- UniSTS:3544

RH17951 (e-PCR)
- UniSTS:35295

RH92631 (e-PCR)
- UniSTS:89064

RH45764 (e-PCR)
- UniSTS:73453

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 more info	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 more info	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 more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NG_008777.1 RefSeqGene

Range

5001..91271

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001376.5 → NP_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:1046 → 4329

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam08385
Location:242 → 832

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam18199
Location:4333 → 4644

Dynein_C; Dynein heavy chain C-terminal domain