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USP48 (ubiquitin specific peptidase 48)

Identity

Alias_namesUSP31
ubiquitin specific protease 31
ubiquitin specific protease 48
Alias_symbol (synonym)FLJ23277
FLJ11328
FLJ20103
FLJ23054
MGC14879
Other aliasRAP1GA1
HGNC (Hugo) USP48
LocusID (NCBI) 84196
Atlas_Id 75565
Location 1p36.12  [Link to chromosome band 1p36]
Location_base_pair Starts at 21727846 and ends at 21783199 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANXA5 (4q27) / USP48 (1p36.12)CPNE4 (3q22.1) / USP48 (1p36.12)CSMD2 (1p35.1) / USP48 (1p36.12)
RAP1GAP (1p36.12) / USP48 (1p36.12)USP48 (1p36.12) / STPG1 (1p36.11)USP48 (1p36.12) / USP48 (1p36.12)
USP48 (1p36.12) / ZFAND6 (15q25.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)USP48   18533
Cards
Entrez_Gene (NCBI)USP48  84196  ubiquitin specific peptidase 48
AliasesRAP1GA1; USP31
GeneCards (Weizmann)USP48
Ensembl hg19 (Hinxton)ENSG00000090686 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000090686 [Gene_View]  chr1:21727846-21783199 [Contig_View]  USP48 [Vega]
ICGC DataPortalENSG00000090686
TCGA cBioPortalUSP48
AceView (NCBI)USP48
Genatlas (Paris)USP48
WikiGenes84196
SOURCE (Princeton)USP48
Genetics Home Reference (NIH)USP48
Genomic and cartography
GoldenPath hg38 (UCSC)USP48  -     chr1:21727846-21783199 -  1p36.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)USP48  -     1p36.12   [Description]    (hg19-Feb_2009)
EnsemblUSP48 - 1p36.12 [CytoView hg19]  USP48 - 1p36.12 [CytoView hg38]
Mapping of homologs : NCBIUSP48 [Mapview hg19]  USP48 [Mapview hg38]
OMIM617445   
Gene and transcription
Genbank (Entrez)AF502942 AI248244 AK000110 AK002190 AK021830
RefSeq transcript (Entrez)NM_001032730 NM_001330394 NM_001350164 NM_001350166 NM_001350167 NM_001350168 NM_032236
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)USP48
Cluster EST : UnigeneHs.467524 [ NCBI ]
CGAP (NCI)Hs.467524
Alternative Splicing GalleryENSG00000090686
Gene ExpressionUSP48 [ NCBI-GEO ]   USP48 [ EBI - ARRAY_EXPRESS ]   USP48 [ SEEK ]   USP48 [ MEM ]
Gene Expression Viewer (FireBrowse)USP48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84196
GTEX Portal (Tissue expression)USP48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86UV5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86UV5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86UV5
Splice isoforms : SwissVarQ86UV5
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
PhosPhoSitePlusQ86UV5
Domaine pattern : Prosite (Expaxy)DUSP (PS51283)    UBIQUITIN_2 (PS50053)    USP_2 (PS00973)    USP_3 (PS50235)   
Domains : Interpro (EBI)Pept_C19_DUSP    Peptidase_C19_UCH    Ubiquitin-rel_dom    Ubiquitin_dom    USP48    USP_CS    USP_dom   
Domain families : Pfam (Sanger)UCH (PF00443)   
Domain families : Pfam (NCBI)pfam00443   
Conserved Domain (NCBI)USP48
DMDM Disease mutations84196
Blocks (Seattle)USP48
SuperfamilyQ86UV5
Human Protein AtlasENSG00000090686
Peptide AtlasQ86UV5
HPRD15637
IPIIPI00328815   IPI00786950   IPI00787034   IPI00787461   IPI00748485   IPI00788045   IPI00414817   IPI00977309   IPI00976630   IPI00973881   IPI01008737   IPI00983262   
Protein Interaction databases
DIP (DOE-UCLA)Q86UV5
IntAct (EBI)Q86UV5
FunCoupENSG00000090686
BioGRIDUSP48
STRING (EMBL)USP48
ZODIACUSP48
Ontologies - Pathways
QuickGOQ86UV5
Ontology : AmiGOthiol-dependent ubiquitin-specific protease activity  nucleoplasm  nucleoplasm  mitochondrion  cytosol  ubiquitin-dependent protein catabolic process  protein deubiquitination  
Ontology : EGO-EBIthiol-dependent ubiquitin-specific protease activity  nucleoplasm  nucleoplasm  mitochondrion  cytosol  ubiquitin-dependent protein catabolic process  protein deubiquitination  
NDEx NetworkUSP48
Atlas of Cancer Signalling NetworkUSP48
Wikipedia pathwaysUSP48
Orthology - Evolution
OrthoDB84196
GeneTree (enSembl)ENSG00000090686
Phylogenetic Trees/Animal Genes : TreeFamUSP48
HOVERGENQ86UV5
HOGENOMQ86UV5
Homologs : HomoloGeneUSP48
Homology/Alignments : Family Browser (UCSC)USP48
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSP48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USP48
dbVarUSP48
ClinVarUSP48
1000_GenomesUSP48 
Exome Variant ServerUSP48
ExAC (Exome Aggregation Consortium)USP48 (select the gene name)
Genetic variants : HAPMAP84196
Genomic Variants (DGV)USP48 [DGVbeta]
DECIPHERUSP48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUSP48 
Mutations
ICGC Data PortalUSP48 
TCGA Data PortalUSP48 
Broad Tumor PortalUSP48
OASIS PortalUSP48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSP48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUSP48
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch USP48
DgiDB (Drug Gene Interaction Database)USP48
DoCM (Curated mutations)USP48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USP48 (select a term)
intoGenUSP48
Cancer3DUSP48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617445   
Orphanet
MedgenUSP48
Genetic Testing Registry USP48
NextProtQ86UV5 [Medical]
TSGene84196
GENETestsUSP48
Target ValidationUSP48
Huge Navigator USP48 [HugePedia]
snp3D : Map Gene to Disease84196
BioCentury BCIQUSP48
ClinGenUSP48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84196
Chemical/Pharm GKB GenePA134947522
Clinical trialUSP48
Miscellaneous
canSAR (ICR)USP48 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSP48
EVEXUSP48
GoPubMedUSP48
iHOPUSP48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:48:27 CEST 2017

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