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DCTN1 dynactin subunit 1 [ Homo sapiens (human) ]

Gene ID: 1639, updated on 6-May-2021

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
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; 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
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Genomic context

See DCTN1 in Genome Data Viewer
Location:
2p13.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74361155..74391866, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74588282..74618993, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NECAP endocytosis associated 1 pseudogene 2 Neighboring gene TATA-box binding protein associated factor 13 pseudogene 2 Neighboring gene DCTN1 antisense RNA 1 Neighboring gene chromosome 2 open reading frame 81 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene WD repeat domain 54 Neighboring gene rhotekin

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?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SLC4A5

Homology

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 microtubule plus-end binding IBA
Inferred from Biological aspect of Ancestor
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
involved_in G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
involved_in IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
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 ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
involved_in cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
involved_in establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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 G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
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
PubMed 
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 
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 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA 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
PubMed 
part_of microtubule associated complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
is_active_in microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_008735.2 RefSeqGene

    Range
    5001..35934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_237

mRNA and Protein(s)

  1. NM_001135040.3NP_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/Swiss-Prot
    Q14203
    Related
    ENSP00000386843.3, ENST00000409567.7
    Conserved Domains (7) summary
    pfam01302
    Location:3094
    CAP_GLY; CAP-Gly domain
    pfam06112
    Location:78167
    Herpes_capsid; Gammaherpesvirus capsid protein
    pfam08172
    Location:294435
    CASP_C; CASP C terminal
    pfam12455
    Location:505785
    Dynactin; Dynein associated protein
    pfam14915
    Location:207527
    CCDC144C; CCDC144C protein coiled-coil region
    pfam16046
    Location:9321014
    FAM76; FAM76 protein
    cl23943
    Location:226322
    PCRF; PCRF domain
  2. NM_001135041.3NP_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/Swiss-Prot
    Q14203
    Related
    ENSP00000387270.1, ENST00000409438.5
    Conserved Domains (5) summary
    pfam08172
    Location:180321
    CASP_C; CASP C terminal
    pfam12455
    Location:391671
    Dynactin; Dynein associated protein
    pfam14915
    Location:93413
    CCDC144C; CCDC144C protein coiled-coil region
    pfam16046
    Location:818900
    FAM76; FAM76 protein
    cl23943
    Location:112208
    PCRF; PCRF domain
  3. NM_001190836.2NP_001177765.1  dynactin subunit 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC005041
    Consensus CDS
    CCDS54368.1
    UniProtKB/Swiss-Prot
    Q14203
    Related
    ENSP00000386406.1, ENST00000409240.5
    Conserved Domains (7) summary
    pfam01302
    Location:1377
    CAP_GLY; CAP-Gly domain
    pfam06112
    Location:61150
    Herpes_capsid; Gammaherpesvirus capsid protein
    pfam08172
    Location:277418
    CASP_C; CASP C terminal
    pfam12455
    Location:488768
    Dynactin; Dynein associated protein
    pfam14915
    Location:190510
    CCDC144C; CCDC144C protein coiled-coil region
    pfam16046
    Location:915997
    FAM76; FAM76 protein
    cl23943
    Location:209305
    PCRF; PCRF domain
  4. NM_001190837.2NP_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/Swiss-Prot
    Q14203
    UniProtKB/TrEMBL
    Q6MZZ3
    Related
    ENSP00000377571.3, ENST00000394003.7
    Conserved Domains (6) summary
    pfam01302
    Location:3094
    CAP_GLY; CAP-Gly domain
    pfam08172
    Location:307448
    CASP_C; CASP C terminal
    pfam12455
    Location:518798
    Dynactin; Dynein associated protein
    pfam14915
    Location:220540
    CCDC144C; CCDC144C protein coiled-coil region
    pfam16046
    Location:130285
    FAM76; FAM76 protein
    cl23943
    Location:239335
    PCRF; PCRF domain
  5. NM_001378991.1NP_001365920.1  dynactin subunit 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005041
    Related
    ENSP00000505612.1, ENST00000680606.1
    Conserved Domains (5) summary
    COG1196
    Location:201533
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:9071020
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam01302
    Location:1277
    CAP_GLY; CAP-Gly domain
    pfam12455
    Location:510788
    Dynactin; Dynein associated protein
    NF033875
    Location:81282
    Agg_substance; LPXTG-anchored aggregation substance
  6. NM_001378992.1NP_001365921.1  dynactin subunit 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC005041
    Conserved Domains (5) summary
    COG1196
    Location:195527
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:9011014
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam01302
    Location:1277
    CAP_GLY; CAP-Gly domain
    pfam12455
    Location:504782
    Dynactin; Dynein associated protein
    NF033875
    Location:81276
    Agg_substance; LPXTG-anchored aggregation substance
  7. NM_004082.5NP_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
    Q14203
    UniProtKB/TrEMBL
    Q6MZZ3
    Related
    ENSP00000487279.2, ENST00000628224.3
    Conserved Domains (6) summary
    pfam01302
    Location:3094
    CAP_GLY; CAP-Gly domain
    pfam08172
    Location:314455
    CASP_C; CASP C terminal
    pfam12455
    Location:525805
    Dynactin; Dynein associated protein
    pfam14915
    Location:227547
    CCDC144C; CCDC144C protein coiled-coil region
    pfam16046
    Location:135292
    FAM76; FAM76 protein
    cl23943
    Location:246342
    PCRF; PCRF domain
  8. NM_023019.4NP_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/Swiss-Prot
    Q14203
    Related
    ENSP00000487724.1, ENST00000633691.1
    Conserved Domains (5) summary
    pfam08172
    Location:180321
    CASP_C; CASP C terminal
    pfam12455
    Location:391671
    Dynactin; Dynein associated protein
    pfam14915
    Location:93413
    CCDC144C; CCDC144C protein coiled-coil region
    pfam16046
    Location:818900
    FAM76; FAM76 protein
    cl23943
    Location:112208
    PCRF; PCRF domain

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    74361155..74391866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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