DCTN1 (dynactin subunit 1)

2009-03-01  

Identity

HGNC
LOCATION
2p13.1
LOCUSID
ALIAS
DAP-150,DP-150,P135
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204843ENST00000361874Q14203
ENSG00000204843ENST00000394003Q14203
ENSG00000204843ENST00000409240Q14203
ENSG00000204843ENST00000409438Q14203
ENSG00000204843ENST00000409567Q14203
ENSG00000204843ENST00000409868E7EX90
ENSG00000204843ENST00000413111C9JZA4
ENSG00000204843ENST00000417090C9JKG6
ENSG00000204843ENST00000421392C9JTE5
ENSG00000204843ENST00000434055Q6AWB1
ENSG00000204843ENST00000437375C9JJN7
ENSG00000204843ENST00000440727C9J1B7
ENSG00000204843ENST00000449655C9JUI8
ENSG00000204843ENST00000454119C9JJD0
ENSG00000204843ENST00000458655E9PCY0
ENSG00000204843ENST00000628224E7EX90
ENSG00000204843ENST00000633691Q14203

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
AURKA Activation by TPX2REACTOMER-HSA-8854518
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
126272312003Mutant dynactin in motor neuron disease.277
195644042009Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning.195
153262532004Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.119
153262532004Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.119
191369522009DCTN1 mutations in Perry syndrome.98
229567692012BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures.85
165051682006A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.74
223738682012Multiple modes of cytoplasmic dynein regulation.74
178282772007Structure-function relationship of CAP-Gly domains.73
225421872012The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini.66

Citation

Dessen P

DCTN1 (dynactin subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50680/dctn1