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    DCTN1 dynactin subunit 1 [ Homo sapiens (human) ]

    Gene ID: 1639, updated on 12-Feb-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DCTN1 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74361155..74391866, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74369715..74400439, complement)
    105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr2:74607239-74607750 Neighboring gene DCTN1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74619101-74619643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74619644-74620185 Neighboring gene chromosome 2 open reading frame 81 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11659 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16055 Neighboring gene WD repeat domain 54

    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

    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 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

    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/TrEMBL
      A0A804CDA6
      Related
      ENSP00000386843.3, ENST00000409567.7
      Conserved Domains (3) summary
      smart01052
      Location:2995
      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:198530
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:9041017
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    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/TrEMBL
      E7EX90
      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/TrEMBL
      E7EX90
      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/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
      Consensus CDS
      CCDS92781.1
      UniProtKB/TrEMBL
      A0A7P0Z4C3, E7EX90
      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
      UniProtKB/TrEMBL
      E7EX90
      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
      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: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/TrEMBL
      E7EX90
      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: 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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74369715..74400439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)