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UPK3A (uroplakin 3A)

Identity

Alias_namesUPK3
uroplakin 3
Other aliasUP3A
UPIII
UPIIIA
HGNC (Hugo) UPK3A
LocusID (NCBI) 7380
Atlas_Id 46005
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 45284987 and ends at 45295874 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ETHE1 (19q13.31) / UPK3A (22q13.31)ETHE1 19q13.31 / UPK3A 22q13.31

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)UPK3A   12580
Cards
Entrez_Gene (NCBI)UPK3A  7380  uroplakin 3A
AliasesUP3A; UPIII; UPIIIA; UPK3
GeneCards (Weizmann)UPK3A
Ensembl hg19 (Hinxton)ENSG00000100373 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100373 [Gene_View]  chr22:45284987-45295874 [Contig_View]  UPK3A [Vega]
ICGC DataPortalENSG00000100373
TCGA cBioPortalUPK3A
AceView (NCBI)UPK3A
Genatlas (Paris)UPK3A
WikiGenes7380
SOURCE (Princeton)UPK3A
Genetics Home Reference (NIH)UPK3A
Genomic and cartography
GoldenPath hg38 (UCSC)UPK3A  -     chr22:45284987-45295874 +  22q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UPK3A  -     22q13.31   [Description]    (hg19-Feb_2009)
EnsemblUPK3A - 22q13.31 [CytoView hg19]  UPK3A - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBIUPK3A [Mapview hg19]  UPK3A [Mapview hg38]
OMIM611559   
Gene and transcription
Genbank (Entrez)AB010116 AB010637 AF085808 BC069544 BC108900
RefSeq transcript (Entrez)NM_001167574 NM_006953
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UPK3A
Cluster EST : UnigeneHs.632787 [ NCBI ]
CGAP (NCI)Hs.632787
Alternative Splicing GalleryENSG00000100373
Gene ExpressionUPK3A [ NCBI-GEO ]   UPK3A [ EBI - ARRAY_EXPRESS ]   UPK3A [ SEEK ]   UPK3A [ MEM ]
Gene Expression Viewer (FireBrowse)UPK3A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7380
GTEX Portal (Tissue expression)UPK3A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75631   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75631  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75631
Splice isoforms : SwissVarO75631
PhosPhoSitePlusO75631
Domains : Interpro (EBI)Uroplakin-3    Uroplakin-3a   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)UPK3A
DMDM Disease mutations7380
Blocks (Seattle)UPK3A
SuperfamilyO75631
Human Protein AtlasENSG00000100373
Peptide AtlasO75631
HPRD15625
IPIIPI00289920   IPI00655744   
Protein Interaction databases
DIP (DOE-UCLA)O75631
IntAct (EBI)O75631
FunCoupENSG00000100373
BioGRIDUPK3A
STRING (EMBL)UPK3A
ZODIACUPK3A
Ontologies - Pathways
QuickGOO75631
Ontology : AmiGOcell morphogenesis  kidney development  protein binding  endoplasmic reticulum membrane  water transport  urea transport  integral component of membrane  apical plasma membrane  epithelial cell differentiation  potassium ion homeostasis  sodium ion homeostasis  urinary bladder development  extracellular exosome  
Ontology : EGO-EBIcell morphogenesis  kidney development  protein binding  endoplasmic reticulum membrane  water transport  urea transport  integral component of membrane  apical plasma membrane  epithelial cell differentiation  potassium ion homeostasis  sodium ion homeostasis  urinary bladder development  extracellular exosome  
NDEx NetworkUPK3A
Atlas of Cancer Signalling NetworkUPK3A
Wikipedia pathwaysUPK3A
Orthology - Evolution
OrthoDB7380
GeneTree (enSembl)ENSG00000100373
Phylogenetic Trees/Animal Genes : TreeFamUPK3A
HOVERGENO75631
HOGENOMO75631
Homologs : HomoloGeneUPK3A
Homology/Alignments : Family Browser (UCSC)UPK3A
Gene fusions - Rearrangements
Fusion : MitelmanETHE1/UPK3A [19q13.31/22q13.31]  [t(19;22)(q13;q13)]  
Fusion: TCGAETHE1 19q13.31 UPK3A 22q13.31 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUPK3A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UPK3A
dbVarUPK3A
ClinVarUPK3A
1000_GenomesUPK3A 
Exome Variant ServerUPK3A
ExAC (Exome Aggregation Consortium)UPK3A (select the gene name)
Genetic variants : HAPMAP7380
Genomic Variants (DGV)UPK3A [DGVbeta]
DECIPHERUPK3A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUPK3A 
Mutations
ICGC Data PortalUPK3A 
TCGA Data PortalUPK3A 
Broad Tumor PortalUPK3A
OASIS PortalUPK3A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUPK3A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUPK3A
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 UPK3A
DgiDB (Drug Gene Interaction Database)UPK3A
DoCM (Curated mutations)UPK3A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UPK3A (select a term)
intoGenUPK3A
Cancer3DUPK3A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611559   
Orphanet12163   
MedgenUPK3A
Genetic Testing Registry UPK3A
NextProtO75631 [Medical]
TSGene7380
GENETestsUPK3A
Huge Navigator UPK3A [HugePedia]
snp3D : Map Gene to Disease7380
BioCentury BCIQUPK3A
ClinGenUPK3A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7380
Chemical/Pharm GKB GenePA37212
Clinical trialUPK3A
Miscellaneous
canSAR (ICR)UPK3A (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUPK3A
EVEXUPK3A
GoPubMedUPK3A
iHOPUPK3A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:43:26 CEST 2017

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