USP45 (ubiquitin specific peptidase 45)

2015-04-01  

Identity

HGNC
USP45
LOCATION
6q16.2
LOCUSID
85015
ALIAS
LCA19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85015
MIM: 618439
HGNC: 20080
Ensembl: ENSG00000123552

Variants:

dbSNP: 85015
ClinVar: 85015
TCGA: ENSG00000123552
COSMIC: USP45

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123552ENST00000327681Q70EL2
ENSG00000123552ENST00000329966D6RBV3
ENSG00000123552ENST00000369233E2QRF0
ENSG00000123552ENST00000472914D6RBV3
ENSG00000123552ENST00000496090H0Y8Q0
ENSG00000123552ENST00000496518H0Y8J5
ENSG00000123552ENST00000500704Q70EL2
ENSG00000123552ENST00000506871D6RC01
ENSG00000123552ENST00000507717H0YA21
ENSG00000123552ENST00000508908D6RE98
ENSG00000123552ENST00000511403H0Y986

Expression (GTEx)

0
5
10
15
20
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
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
Formation of Incision Complex in GG-NERREACTOMER-HSA-5696395

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
255382202015USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses.20
305735632019Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.3
302581002018USP45 and Spindly are part of the same complex implicated in cell migration.1

Citation

Dessen P

USP45 (ubiquitin specific peptidase 45)

Atlas Genet Cytogenet Oncol Haematol. 2015-04-01

Online version: http://atlasgeneticsoncology.org/gene/55158/usp45