DCTN1 (dynactin subunit 1)

2009-03-01 Affiliation

Identity

HGNC

DCTN1

LOCATION

2p13.1

LOCUSID

1639

ALIAS

DAP-150,DP-150,P135

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1639
MIM: 601143
HGNC: 2711
Ensembl: ENSG00000204843

Variants:

dbSNP: 1639
ClinVar: 1639
TCGA: ENSG00000204843
COSMIC: DCTN1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204843	ENST00000361874	Q14203
ENSG00000204843	ENST00000394003	Q14203
ENSG00000204843	ENST00000409240	Q14203
ENSG00000204843	ENST00000409438	Q14203
ENSG00000204843	ENST00000409567	Q14203
ENSG00000204843	ENST00000409868	E7EX90
ENSG00000204843	ENST00000413111	C9JZA4
ENSG00000204843	ENST00000417090	C9JKG6
ENSG00000204843	ENST00000421392	C9JTE5
ENSG00000204843	ENST00000434055	Q6AWB1
ENSG00000204843	ENST00000437375	C9JJN7
ENSG00000204843	ENST00000440727	C9J1B7
ENSG00000204843	ENST00000449655	C9JUI8
ENSG00000204843	ENST00000454119	C9JJD0
ENSG00000204843	ENST00000458655	E9PCY0
ENSG00000204843	ENST00000628224	E7EX90
ENSG00000204843	ENST00000633691	Q14203

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Huntington's disease	KEGG	ko05016
Huntington's disease	KEGG	hsa05016
Vasopressin-regulated water reabsorption	KEGG	ko04962
Vasopressin-regulated water reabsorption	KEGG	hsa04962
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Transport to the Golgi and subsequent modification	REACTOME	R-HSA-948021
ER to Golgi Anterograde Transport	REACTOME	R-HSA-199977
Unfolded Protein Response (UPR)	REACTOME	R-HSA-381119
IRE1alpha activates chaperones	REACTOME	R-HSA-381070
XBP1(S) activates chaperone genes	REACTOME	R-HSA-381038
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
MHC class II antigen presentation	REACTOME	R-HSA-2132295
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G2-G2/M phases	REACTOME	R-HSA-453274
G2/M Transition	REACTOME	R-HSA-69275
Regulation of PLK1 Activity at G2/M Transition	REACTOME	R-HSA-2565942
Centrosome maturation	REACTOME	R-HSA-380287
Recruitment of mitotic centrosome proteins and complexes	REACTOME	R-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosome	REACTOME	R-HSA-380284
Loss of Nlp from mitotic centrosomes	REACTOME	R-HSA-380259
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
COPI-mediated anterograde transport	REACTOME	R-HSA-6807878
AURKA Activation by TPX2	REACTOME	R-HSA-8854518
Intra-Golgi and retrograde Golgi-to-ER traffic	REACTOME	R-HSA-6811442
Golgi-to-ER retrograde transport	REACTOME	R-HSA-8856688
COPI-independent Golgi-to-ER retrograde traffic	REACTOME	R-HSA-6811436

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38267040	2024	Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.	0
38267040	2024	Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.	0
37336025	2023	Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.	2
37336025	2023	Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.	2
34615428	2022	An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.	2
35325666	2022	Perry disease in an Argentine family due to the DCTN1 p.G67D variant.	2
34615428	2022	An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.	2
35325666	2022	Perry disease in an Argentine family due to the DCTN1 p.G67D variant.	2
32869310	2021	Septin 7 is a centrosomal protein that ensures S phase entry and microtubule nucleation by maintaining the abundance of p150(glued).	12
33896271	2021	Study on the Prognostic Values of Dynactin Genes in Low-Grade Glioma.	5
33924373	2021	DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.	15
32869310	2021	Septin 7 is a centrosomal protein that ensures S phase entry and microtubule nucleation by maintaining the abundance of p150(glued).	12
33896271	2021	Study on the Prognostic Values of Dynactin Genes in Low-Grade Glioma.	5
33924373	2021	DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.	15
31654383	2020	Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1.	9

Citation

Dessen P

DCTN1 (dynactin subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50680

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