DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1)

2011-11-01  

Identity

HGNC
DYNC1I1
LOCATION
7q21.3
LOCUSID
1780
ALIAS
DNCI1,DNCIC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1780
MIM: 603772
HGNC: 2963
Ensembl: ENSG00000158560

Variants:

dbSNP: 1780
ClinVar: 1780
TCGA: ENSG00000158560
COSMIC: DYNC1I1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158560ENST00000324972O14576
ENSG00000158560ENST00000324972A4D1I7
ENSG00000158560ENST00000359388O14576
ENSG00000158560ENST00000413338C9J3E7
ENSG00000158560ENST00000437599O14576
ENSG00000158560ENST00000447467O14576
ENSG00000158560ENST00000457059O14576
ENSG00000158560ENST00000518089E5RJ75
ENSG00000158560ENST00000524053E5RFE1
ENSG00000158560ENST00000537881A0A0A0MTG2
ENSG00000158560ENST00000630942O14576

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
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
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
217634952011T-cell receptor signaling enhances transcriptional elongation from latent HIV proviruses by activating P-TEFb through an ERK-dependent pathway.62
200483382010Functional interplay between LIS1, NDE1 and NDEL1 in dynein-dependent organelle positioning.60
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
239600702013Dynein interacts with the neural cell adhesion molecule (NCAM180) to tether dynamic microtubules and maintain synaptic density in cortical neurons.19
244592112014Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.13
250152912014Interaction of SQSTM1 with the motor protein dynein--SQSTM1 is required for normal dynein function and trafficking.13
217674142011Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma.10
252311662014Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.10
120066652002PLAC-24 is a cytoplasmic dynein-binding protein that is recruited to sites of cell-cell contact.8
302502992019Cytoplasmic dynein regulates the subcellular localization of sphingosine kinase 2 to elicit tumor-suppressive functions in glioblastoma.5

Citation

Dessen P

DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-11-01

Online version: http://atlasgeneticsoncology.org/gene/52486/dync1i1-(dynein-cytoplasmic-1-intermediate-chain-1)