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    DCTN5 dynactin subunit 5 [ Homo sapiens (human) ]

    Gene ID: 84516, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DCTN5provided by HGNC
    Official Full Name
    dynactin subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:24594
    See related
    Ensembl:ENSG00000166847 MIM:612962; AllianceGenome:HGNC:24594
    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
    Summary
    This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in brain (RPKM 13.0), testis (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCTN5 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23641466..23677472)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23917274..23953274)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23652787..23688793)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23605373-23605549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7281 Neighboring gene partner and localizer of BRCA2 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23651698-23651932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23653060-23653849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23698309-23698810 Neighboring gene polo like kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23716303-23716803 Neighboring gene endoplasmic reticulum to nucleus signaling 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23740522-23741453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23766235-23766880 Neighboring gene calcineurin like EF-hand protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Dynactins p25 and p27 are predicted to adopt the LbetaH fold. Parisi G, et al. FEBS Lett, 2004 Mar 26. PMID 15043994
    2. Ubiquitination and dynactin regulate TMEPAI lysosomal trafficking. Luo S, et al. Sci Rep, 2017 Feb 20. PMID 28218281, Free PMC Article
    3. Analysis of dynactin subcomplexes reveals a novel actin-related protein associated with the arp1 minifilament pointed end. Eckley DM, et al. J Cell Biol, 1999 Oct 18. PMID 10525537, Free PMC Article
    4. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Wellcome Trust Case Control Consortium. Nature, 2007 Jun 7. PMID 17554300, Free PMC Article
    5. Centrosome-related genes, genetic variation, and risk of breast cancer. Olson JE, et al. Breast Cancer Res Treat, 2011 Jan. PMID 20508983, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aorta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of dynactin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    dynactin subunit 5
    Names
    dynactin 4
    dynactin 5 (p25)
    dynactin subunit p25

    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.

    mRNA and Protein(s)

    1. NM_001199011.2 → NP_001185940.1  dynactin subunit 5 isoform 2

      See identical proteins and their annotated locations for NP_001185940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple coding exons and uses a distinct 3' terminal exon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      CR745557, DA310703
      Consensus CDS
      CCDS58435.1
      UniProtKB/Swiss-Prot
      Q9BTE1
      Related
      ENSP00000455685.1, ENST00000568272.1
      Conserved Domains (1) summary
      cl00160
      Location:13 → 39
      LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

    2. NM_001199743.2 → NP_001186672.1  dynactin subunit 5 isoform 3

      See identical proteins and their annotated locations for NP_001186672.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC008870, CD388246, DA310703
      Consensus CDS
      CCDS58436.1
      UniProtKB/TrEMBL
      H3BR94
      Related
      ENSP00000454691.1, ENST00000563998.5
      Conserved Domains (1) summary
      cd03359
      Location:13 → 151
      LbH_Dynactin_5; Dynactin 5 (or subunit p25); Dynactin is a major component of the activator complex that stimulates dynein-mediated vesicle transport. Dynactin is a heterocomplex of at least eight subunits, including a 150,000-MW protein called Glued, the actin-capping ...

    3. NM_032486.4 → NP_115875.1  dynactin subunit 5 isoform 1

      See identical proteins and their annotated locations for NP_115875.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC008870, BC004191, DA310703
      Consensus CDS
      CCDS10615.1
      UniProtKB/Swiss-Prot
      A8K9X8, H3BN51, H3BQA4, Q9BTE1
      UniProtKB/TrEMBL
      H3BR94
      Related
      ENSP00000300087.2, ENST00000300087.7
      Conserved Domains (1) summary
      cd03359
      Location:13 → 173
      LbH_Dynactin_5; Dynactin 5 (or subunit p25); Dynactin is a major component of the activator complex that stimulates dynein-mediated vesicle transport. Dynactin is a heterocomplex of at least eight subunits, including a 150,000-MW protein called Glued, the actin-capping ...

    RNA

    1. NR_037573.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008870, BC004191, DA310703, DB087566

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      23641466..23677472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001752007.3 RNA Sequence

    2. XR_001752006.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      23917274..23953274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008484744.1 RNA Sequence

    2. XR_008484743.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTE1.1 GenPept UniProtKB/Swiss-Prot:Q9BTE1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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