DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)

2014-06-01  

Identity

HGNC
DYNC1H1
LOCATION
14q32.31
LOCUSID
1778
ALIAS
CMT2O,DHC1,DHC1a,DNCH1,DNCL,DNECL,DYHC,Dnchc1,HL-3,SMALED1,p22
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379036662024DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.0
379036662024DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.0
361753722023DYNC1H1-related epilepsy: Genotype-phenotype correlation.2
367205982023[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].0
368827412023Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.1
361753722023DYNC1H1-related epilepsy: Genotype-phenotype correlation.2
367205982023[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].0
368827412023Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.1
345355052022A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.8
350998382022De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.3
356017402022A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis.8
345355052022A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.8
350998382022De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.3
356017402022A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis.8
340924032021Two cases of DYNC1H1 mutations with intractable epilepsy.5

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/css/lib/js/gene-fusions-explorer/meetings/