USP48 (ubiquitin specific peptidase 48)

2018-07-01  

Identity

HGNC
USP48
LOCATION
1p36.12
LOCUSID
84196
ALIAS
RAP1GA1,USP31
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84196
MIM: 617445
HGNC: 18533
Ensembl: ENSG00000090686

Variants:

dbSNP: 84196
ClinVar: 84196
TCGA: ENSG00000090686
COSMIC: USP48

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090686ENST00000308271Q86UV5
ENSG00000090686ENST00000374730H3BLX5
ENSG00000090686ENST00000374732A0A0A0MRS6
ENSG00000090686ENST00000400301Q86UV5
ENSG00000090686ENST00000421625Q86UV5
ENSG00000090686ENST00000526044E9PJH5
ENSG00000090686ENST00000527823E9PRY5
ENSG00000090686ENST00000529637Q86UV5
ENSG00000090686ENST00000532737E9PJ87
ENSG00000090686ENST00000534705E9PJ93

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

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
162140422006Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB.29
300936872018Identification of recurrent USP48 and BRAF mutations in Cushing's disease.17
293354152018USP48 restrains resection by site-specific cleavage of the BRCA1 ubiquitin mark from H2A.16
254864602015CSN-associated USP48 confers stability to nuclear NF-κB/RelA by trimming K48-linked Ub-chains.14
286231882017Gli1-induced deubiquitinase USP48 aids glioblastoma tumorigenesis by stabilizing Gli1.13
153543492004Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis.6
243089712014Dopamine D3 receptor inhibits the ubiquitin-specific peptidase 48 to promote NHE3 degradation.6
298919262018Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48.5
288744582018The deubiquitinating enzyme USP48 stabilizes TRAF2 and reduces E-cadherin-mediated adherens junctions.4
282338612017Ubiquitin-specific peptidase 48 regulates Mdm2 protein levels independent of its deubiquitinase activity.2

Citation

Dessen P

USP48 (ubiquitin specific peptidase 48)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57481/usp48-(ubiquitin-specific-peptidase-48)