DCTN1 dynactin subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCTN1provided by HGNC
Official Full Name: dynactin subunit 1provided by HGNC
Primary source: HGNC:HGNC:2711
See related: Ensembl:ENSG00000204843 MIM:601143; AllianceGenome:HGNC:2711
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: P135; DP-150; HMND14; DAP-150
Summary: This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
Expression: Ubiquitous expression in brain (RPKM 71.1), testis (RPKM 43.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.1

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74361155..74391866, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74369715..74400439, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (74588282..74618993, complement)

Chromosome 2 - NC_000002.12 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?

Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.
Title: Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.
Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.
Title: Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.
Perry disease in an Argentine family due to the DCTN1 p.G67D variant.
Title: Perry disease in an Argentine family due to the DCTN1 p.G67D variant.
An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.
Title: An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.
Study on the Prognostic Values of Dynactin Genes in Low-Grade Glioma.
Title: Study on the Prognostic Values of Dynactin Genes in Low-Grade Glioma.
Septin 7 is a centrosomal protein that ensures S phase entry and microtubule nucleation by maintaining the abundance of p150(glued).
Title: Septin 7 is a centrosomal protein that ensures S phase entry and microtubule nucleation by maintaining the abundance of p150(glued).
A Novel Cosegregating DCTN1 Splice Site Variant in a Family with Bipolar Disorder May Hold the Key to Understanding the Etiology.
Title: A Novel Cosegregating DCTN1 Splice Site Variant in a Family with Bipolar Disorder May Hold the Key to Understanding the Etiology.
DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.
Title: DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.
Title: DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.
Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1.
Title: Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1.

Submit: New GeneRIF Correction See all GeneRIFs (77)

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
Amyotrophic lateral sclerosis type 1 MedGen: C1862939 OMIM: 105400 GeneReviews: Amyotrophic Lateral Sclerosis Overview	not available
Neuronopathy, distal hereditary motor, type 7B MedGen: C1843315 OMIM: 607641 GeneReviews: DCTN1-Related Neurodegeneration	not available
Perry syndrome MedGen: C1868594 OMIM: 168605 GeneReviews: DCTN1-Related Neurodegeneration	not available

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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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr relocalizes DCTN1 (p150glued) from the plus ends of microtubules in infected primary human macrophages	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

MARC_6321-6322:992007238:1 (e-PCR)
- UniSTS:231230

MARC_6321-6322:997299551:1 (e-PCR)
- UniSTS:231230

RH11966 (e-PCR)
- UniSTS:6470

MARC_15767-15768:1017940424:1 (e-PCR)
- UniSTS:267897

MARC_1819-1820:991931443:3 (e-PCR)
- UniSTS:230869

SHGC-79964 (e-PCR)
- UniSTS:101598

SHGC-4184 (e-PCR)
- UniSTS:64744

IB662 (e-PCR)
- UniSTS:64745

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables tau protein binding	NAS Non-traceable Author Statement more info	PubMed
enables tubulin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in centriole-centriole cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of mitotic spindle orientation	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of synapse structure	TAS Traceable Author Statement more info	PubMed
involved_in melanosome transport	IEA Inferred from Electronic Annotation more info
involved_in microtubule anchoring at centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	NAS Non-traceable Author Statement more info	PubMed
involved_in neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear membrane disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of microtubule nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuromuscular junction development	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 transport, endosome to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventral spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex region	IDA Inferred from Direct Assay more info	PubMed
located_in cell leading edge	IEA Inferred from Electronic Annotation more info
part_of centriolar subdistal appendage	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of dynein complex	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
part_of microtubule associated complex	IBA Inferred from Biological aspect of Ancestor more info
part_of microtubule associated complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in microtubule plus-end	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
part_of retromer complex	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle pole	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dynactin subunit 1

Names: 150 kDa dynein-associated polypeptide; dynactin 1 (p150, glued homolog, Drosophila)

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_008735.2 RefSeqGene

Range

5001..35934

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_237

mRNA and Protein(s)

NM_001135040.3 → NP_001128512.1 dynactin subunit 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the 5' coding region and 5' UTR, compared to variant 4. These differences cause translation initiation from an upstream AUG and a protein (isoform 3) with a longer N-terminus containing a CAP-Gly domain, compared to isoform 4.

Source sequence(s)

AC005041

Consensus CDS

CCDS46341.1

UniProtKB/TrEMBL

A0A804CDA6

Related

ENSP00000386843.3, ENST00000409567.7

Conserved Domains (3) summary

smart01052
Location:29 → 95

CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network

COG1196
Location:198 → 530

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02169
Location:904 → 1017

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
NM_001135041.3 → NP_001128513.1 dynactin subunit 1 isoform 4

See identical proteins and their annotated locations for NP_001128513.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents the shortest transcript and it encodes the shortest protein (isoform 4).

Source sequence(s)

AC005041

Consensus CDS

CCDS46342.1

UniProtKB/TrEMBL

E7EX90

Related

ENSP00000387270.1, ENST00000409438.5

Conserved Domains (5) summary

pfam08172
Location:180 → 321

CASP_C; CASP C terminal

pfam12455
Location:391 → 671

Dynactin; Dynein associated protein

pfam14915
Location:93 → 413

CCDC144C; CCDC144C protein coiled-coil region

pfam16046
Location:818 → 900

FAM76; FAM76 protein

cl23943
Location:112 → 208

PCRF; PCRF domain
NM_001190836.2 → NP_001177765.1 dynactin subunit 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC005041

Consensus CDS

CCDS54368.1

UniProtKB/TrEMBL

E7EX90

Related

ENSP00000386406.1, ENST00000409240.5

Conserved Domains (7) summary

pfam01302
Location:13 → 77

CAP_GLY; CAP-Gly domain

pfam06112
Location:61 → 150

Herpes_capsid; Gammaherpesvirus capsid protein

pfam08172
Location:277 → 418

CASP_C; CASP C terminal

pfam12455
Location:488 → 768

Dynactin; Dynein associated protein

pfam14915
Location:190 → 510

CCDC144C; CCDC144C protein coiled-coil region

pfam16046
Location:915 → 997

FAM76; FAM76 protein

cl23943
Location:209 → 305

PCRF; PCRF domain
NM_001190837.2 → NP_001177766.1 dynactin subunit 1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) has multiple differences in the 5' end and in the 3' coding region, compared to variant 4. These differences cause translation initiation from an upstream AUG and a protein (isoform 6) with longer N- and C-termini, compared to isoform 4.

Source sequence(s)

AC005041

Consensus CDS

CCDS54369.1

UniProtKB/TrEMBL

Q6MZZ3

Related

ENSP00000377571.3, ENST00000394003.7

Conserved Domains (6) summary

pfam01302
Location:30 → 94

CAP_GLY; CAP-Gly domain

pfam08172
Location:307 → 448

CASP_C; CASP C terminal

pfam12455
Location:518 → 798

Dynactin; Dynein associated protein

pfam14915
Location:220 → 540

CCDC144C; CCDC144C protein coiled-coil region

pfam16046
Location:130 → 285

FAM76; FAM76 protein

cl23943
Location:239 → 335

PCRF; PCRF domain
NM_001378991.1 → NP_001365920.1 dynactin subunit 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC005041

Consensus CDS

CCDS92781.1

UniProtKB/TrEMBL

A0A7P0Z4C3, E7EX90

Related

ENSP00000505612.1, ENST00000680606.1

Conserved Domains (5) summary

COG1196
Location:201 → 533

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02169
Location:907 → 1020

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam01302
Location:12 → 77

CAP_GLY; CAP-Gly domain

pfam12455
Location:510 → 788

Dynactin; Dynein associated protein

NF033875
Location:81 → 282

Agg_substance; LPXTG-anchored aggregation substance
NM_001378992.1 → NP_001365921.1 dynactin subunit 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC005041

UniProtKB/TrEMBL

E7EX90

Conserved Domains (5) summary

COG1196
Location:195 → 527

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02169
Location:901 → 1014

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam01302
Location:12 → 77

CAP_GLY; CAP-Gly domain

pfam12455
Location:504 → 782

Dynactin; Dynein associated protein

NF033875
Location:81 → 276

Agg_substance; LPXTG-anchored aggregation substance
NM_004082.5 → NP_004073.2 dynactin subunit 1 isoform 1

See identical proteins and their annotated locations for NP_004073.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) has multiple differences in the 5' UTR, 5' coding region and 3' coding region, compared to variant 4. These differences cause translation initiation from an upstream AUG and a protein (isoform 1) with a longer N-terminus containing a CAP-Gly domain and a longer C-terminus, compared to isoform 4. Isoform 1 is also called p150.

Source sequence(s)

AC005041

Consensus CDS

CCDS1939.1

UniProtKB/Swiss-Prot

A8MY36, B4DM45, E9PFS5, E9PGE1, G5E9H4, O95296, Q14203, Q6IQ37, Q9BRM9, Q9UIU1, Q9UIU2

UniProtKB/TrEMBL

Q6MZZ3

Related

ENSP00000487279.2, ENST00000628224.3

Conserved Domains (6) summary

pfam01302
Location:30 → 94

CAP_GLY; CAP-Gly domain

pfam08172
Location:314 → 455

CASP_C; CASP C terminal

pfam12455
Location:525 → 805

Dynactin; Dynein associated protein

pfam14915
Location:227 → 547

CCDC144C; CCDC144C protein coiled-coil region

pfam16046
Location:135 → 292

FAM76; FAM76 protein

cl23943
Location:246 → 342

PCRF; PCRF domain
NM_023019.4 → NP_075408.1 dynactin subunit 1 isoform 2

See identical proteins and their annotated locations for NP_075408.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional in-frame exon in the 3' end, compared to variant 4, resulting in a protein (isoform 2) with a longer C-terminus, compared to isoform 4. Isoform 2 is also called p135.

Source sequence(s)

AC005041

Consensus CDS

CCDS46343.1

UniProtKB/TrEMBL

E7EX90

Related

ENSP00000487724.1, ENST00000633691.1

Conserved Domains (5) summary

pfam08172
Location:180 → 321

CASP_C; CASP C terminal

pfam12455
Location:391 → 671

Dynactin; Dynein associated protein

pfam14915
Location:93 → 413

CCDC144C; CCDC144C protein coiled-coil region

pfam16046
Location:818 → 900

FAM76; FAM76 protein

cl23943
Location:112 → 208

PCRF; PCRF domain

RNA

NR_033935.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains an alternate 5' exon and an additional segment in the 3' end, compared to variant 4. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the additional 3' segment results in an early start codon which renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC005041

Related

ENST00000434055.5