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    DCTN4 dynactin subunit 4 [ Homo sapiens (human) ]

    Gene ID: 51164, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DCTN4provided by HGNC
    Official Full Name
    dynactin subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:15518
    See related
    Ensembl:ENSG00000132912 MIM:614758; AllianceGenome:HGNC:15518
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P62; DYN4
    Summary
    Located in centrosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 24.6), bone marrow (RPKM 19.3) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See DCTN4 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150708440..150759017, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151244948..151295528, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150088002..150138579, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MYOZ3 antisense RNA 1 Neighboring gene myozenin 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150079866-150080642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150080643-150081419 Neighboring gene RNA binding motif protein 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23428 Neighboring gene uncharacterized LOC124901110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16517 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150158841-150159702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150168717-150169696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150169697-150170675 Neighboring gene small integral membrane protein 3 Neighboring gene Sharpr-MPRA regulatory region 7532 Neighboring gene uncharacterized LOC124901113 Neighboring gene immunity related GTPase M

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Emond MJ, et al. Nat Genet, 2012 Jul 8. PMID 22772370, Free PMC Article
    2. DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Viel M, et al. Clin Respir J, 2016 Nov. PMID 25763772
    3. Self-regulated polymerization of the actin-related protein Arp1. Bingham JB, et al. Curr Biol, 1999 Feb 25. PMID 10074429
    4. Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A. Lim CM, et al. J Biol Chem, 2006 May 19. PMID 16554302
    5. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. Boultwood J, et al. Genomics, 2000 May 15. PMID 10843801

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Findings provide evidence that DCTN4 missense variants, especially p.Tyr263Cys, may be involved in the pathogenesis of chronic Pseudomonas aeruginosa infection in male with cystic fi brosis.
      Title: DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
    3. used an extreme phenotype study to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis
      Title: Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
    4. ATP7B interaction with p62 is a key component of the copper-induced trafficking pathway that delivers ATP7B to subapical vesicles of hepatocytes for the removal of excess copper into bile
      Title: Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of cytoplasmic dynein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of dynactin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynactin subunit 4
    Names
    dynactin 4 (p62)
    dynactin p62 subunit
    dynactin subunit p62

    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_001135643.2 → NP_001129115.1  dynactin subunit 4 isoform a

      See identical proteins and their annotated locations for NP_001129115.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC008453, AK307757, AL162085, DC321382
      Consensus CDS
      CCDS47310.1
      UniProtKB/TrEMBL
      A0A0S2Z5B8
      Related
      ENSP00000414906.2, ENST00000446090.7
      Conserved Domains (1) summary
      pfam05502
      Location:23 → 348
      Dynactin_p62; Dynactin p62 family

    2. NM_001135644.2 → NP_001129116.1  dynactin subunit 4 isoform c

      See identical proteins and their annotated locations for NP_001129116.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and lacks a 7 aa internal segment compared to isoform a.
      Source sequence(s)
      AC008450, AC008453, AK125973, AL162085
      Consensus CDS
      CCDS47311.1
      UniProtKB/TrEMBL
      A0A0S2Z5B8
      Related
      ENSP00000411251.1, ENST00000424236.5
      Conserved Domains (1) summary
      pfam05502
      Location:2 → 284
      Dynactin_p62; Dynactin p62 family

    3. NM_016221.4 → NP_057305.1  dynactin subunit 4 isoform b

      See identical proteins and their annotated locations for NP_057305.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC008453, AK000299, AL162085, DC321382
      Consensus CDS
      CCDS4310.1
      UniProtKB/Swiss-Prot
      B3KWW0, D3DQH0, E5RGT5, Q8TAN8, Q9UJW0
      UniProtKB/TrEMBL
      A0A0S2Z5B8, A0A0S2Z5D4
      Related
      ENSP00000416968.2, ENST00000447998.7
      Conserved Domains (1) summary
      pfam05502
      Location:23 → 341
      Dynactin_p62; Dynactin p62 family

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      150708440..150759017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537644.2 → XP_011535946.1  dynactin subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_011535946.1

      UniProtKB/TrEMBL
      A0A0S2Z5B8
      Conserved Domains (1) summary
      pfam05502
      Location:2 → 284
      Dynactin_p62; Dynactin p62 family

    2. XM_047417261.1 → XP_047273217.1  dynactin subunit 4 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5B8

    3. XM_011537645.2 → XP_011535947.1  dynactin subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_011535947.1

      UniProtKB/TrEMBL
      A0A0S2Z5B8
      Conserved Domains (1) summary
      pfam05502
      Location:2 → 284
      Dynactin_p62; Dynactin p62 family

    4. XM_047417262.1 → XP_047273218.1  dynactin subunit 4 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5B8

    5. XM_047417263.1 → XP_047273219.1  dynactin subunit 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      151244948..151295528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352717.1 → XP_054208692.1  dynactin subunit 4 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z5B8

    2. XM_054352718.1 → XP_054208693.1  dynactin subunit 4 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z5B8

    3. XM_054352719.1 → XP_054208694.1  dynactin subunit 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJW0.1 GenPept UniProtKB/Swiss-Prot:Q9UJW0

    Gene LinkOut

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