UBQLN1 (ubiquilin 1)

2012-07-01  

Identity

HGNC
UBQLN1
LOCATION
9q21.32
LOCUSID
29979
ALIAS
DA41,DSK2,PLIC-1,UBQN,XDRP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29979
MIM: 605046
HGNC: 12508
Ensembl: ENSG00000135018

Variants:

dbSNP: 29979
ClinVar: 29979
TCGA: ENSG00000135018
COSMIC: UBQLN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135018ENST00000257468Q9UMX0
ENSG00000135018ENST00000257468A0A024R258
ENSG00000135018ENST00000376395Q9UMX0
ENSG00000135018ENST00000526134H0YEZ9
ENSG00000135018ENST00000529923H0YDS0

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
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

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
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
191482252009PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation.135
205299572010Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy.96
157459792005Family-based association between Alzheimer's disease and variants in UBQLN1.92
182418852008Affinity makes the difference: nonselective interaction of the UBA domain of Ubiquilin-1 with monomeric ubiquitin and polyubiquitin chains.73
198226692009Ubiquilin and p97/VCP bind erasin, forming a complex involved in ERAD.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
273451492016Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation.57
164613342006Suppression of polyglutamine-induced toxicity in cell and animal models of Huntington's disease by ubiquilin.56
191121762009Potentiation of amyotrophic lateral sclerosis (ALS)-associated TDP-43 aggregation by the proteasome-targeting factor, ubiquilin 1.56
126343732003Interaction with a ubiquitin-like protein enhances the ubiquitination and degradation of hepatitis C virus RNA-dependent RNA polymerase.46

Citation

Dessen P

UBQLN1 (ubiquilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-07-01

Online version: http://atlasgeneticsoncology.org/gene/52768/ubqln1