UPK3A (uroplakin 3A)

Gene

• Entrez ID: 7380
• Gene name: Uroplakin 3A
• Gene symbol: UPK3A
• Synonyms (NCBI Gene): UP3A, UPIII, UPIIIA, UPK3
• Chromosome: 22
• Chromosome location: 22q13.31
• Summary: This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript var

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205558	G>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1476346	hsa-miR-1205	CLIP-seq
MIRT1476347	hsa-miR-1909	CLIP-seq
MIRT1476348	hsa-miR-2861	CLIP-seq
MIRT1476349	hsa-miR-3918	CLIP-seq
MIRT1476350	hsa-miR-4512	CLIP-seq
MIRT1476351	hsa-miR-4708-3p	CLIP-seq
MIRT1476352	hsa-miR-486-3p	CLIP-seq
MIRT1476353	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001822	Process	Kidney development	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006833	Process	Water transport	IBA
GO:0006833	Process	Water transport	IEA
GO:0015840	Process	Urea transport	IBA
GO:0015840	Process	Urea transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030855	Process	Epithelial cell differentiation	IDA	10514386
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060157	Process	Urinary bladder development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0120001	Component	Apical plasma membrane urothelial plaque	IEA

Other IDs

• MIM: 611559
• HGNC: 12580
• e!Ensembl: ENSG00000100373

Protein

• UniProt ID: O75631
• Protein name: Uroplakin-3a (UP3a) (Uroplakin III) (UPIII)
• Protein function: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells.
• Tissue specificity: TISSUE SPECIFICITY: Expressed in ureter. {ECO:0000269|PubMed:9846985}.
• Sequence:

  MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHE
  VYLYVLVDSAISRNASVQDSTNTPLGSTFLQTEGGRTGPYKAVAFDLIPCSDLPSLDAIG
  DVSKASQILNAYLVRVGANGTCLWDPNFQGLCNAPLSAATEYRFKYVLVNMSTGLVEDQT
  LWSDPIRTNQLTPYSTIDTWPGRRSGGMIVITSILGSLPFFLLVGFAGAIALSLVDMGSS
  DGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVYSSKLQD

• Sequence length: 287

Pathways

KEGG:

Bladder cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomalies of kidney and urinary tract 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF KIDNEY AND URINARY TRACT	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal hypodysplasia/aplasia 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPK3A-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	22441574		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	14654529, 18313120		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29784854, 31254429		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	22887771	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29784854, 31254429		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23106579	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	7485401, 9818021	Associate	★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	17698128, 29299202, 31501798		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	29193617		★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	23670165, 32377607	Associate	★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	BEFREE	22558067		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	17698128, 29299202, 31501798		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	LHGDN	17698128		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23106579	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29784854, 31254429		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29784854		★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	31501798		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	34944460	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27409348	Associate	★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	16731295		★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal agenesis, unilateral	Renal Agenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35774082	Stimulate	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	12474225		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	ORPHANET_DG	15888565		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25743828, 30069482	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33762601	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	34944460	Stimulate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	14654529, 28052688		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	12640275, 14713856, 15523493, 16731295, 17880289		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	LHGDN	17880289		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	14713856, 15523493, 17497182, 17880289, 22558067		★☆☆☆☆ Found in Text Mining only