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DCTN4 dynactin subunit 4 [ Homo sapiens (human) ]

Gene ID: 51164, updated on 3-Nov-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, Nov 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: 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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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

  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

  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

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

  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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