DCTN5 dynactin subunit 5 [Homo sapiens (human)] - Gene

Summary

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

Location:: 16p12.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (23641466..23677472)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (23917274..23953274)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (23652787..23688793)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed

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

SHGC-14427 (e-PCR)
- UniSTS:11551

SHGC-60478 (e-PCR)
- UniSTS:48172

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

SHGC-60850 (e-PCR)
- UniSTS:26764

RH79716 (e-PCR)
- UniSTS:91277

RH68099 (e-PCR)
- UniSTS:70332

G17934 (e-PCR)
- UniSTS:39390

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)

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 ...
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 ...
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

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