DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)

2014-06-01  

Identity

HGNC
LOCATION
14q32.31
LOCUSID
ALIAS
CMT2O,DHC1,DHC1a,DNCH1,DNCL,DNECL,DYHC,Dnchc1,HL-3,SMALED1,p22
FUSION GENES

Other Information

Locus ID:

NCBI: 1778
MIM: 600112
HGNC: 2961
Ensembl: ENSG00000197102

Variants:

dbSNP: 1778
ClinVar: 1778
TCGA: ENSG00000197102
COSMIC: DYNC1H1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197102ENST00000360184Q14204
ENSG00000197102ENST00000553423H0YJ21
ENSG00000197102ENST00000643508A0A2R8YFZ7
ENSG00000197102ENST00000644881A0A2R8Y5T0
ENSG00000197102ENST00000645039A0A2R8Y6H2
ENSG00000197102ENST00000645114A0A2R8YGC7
ENSG00000197102ENST00000645149A0A2R8Y706
ENSG00000197102ENST00000645978A0A2R8Y6I5
ENSG00000197102ENST00000647204A0A2R8Y542

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
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
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
Innate Immune SystemREACTOMER-HSA-168249
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
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
229567692012BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures.85
223738682012Multiple modes of cytoplasmic dynein regulation.74
190205192008Dynein, Lis1 and CLIP-170 counteract Eg5-dependent centrosome separation during bipolar spindle assembly.71
218201002011Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.69
224596772012Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.64
252312972014HIV-1 uncoating is facilitated by dynein and kinesin 1.64
235894912013Systematic dissection of dynein regulators in mitosis.55
252664232014Autoinhibition and cooperative activation mechanisms of cytoplasmic dynein.55
223683002012Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.51
232132552012Reconstitution of the human cytoplasmic dynein complex.45

Citation

Dessen P

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54039/dync1h1