• Gene id: 7380

Gene Summary

• Gene Symbol: UPK3A   Gene   UCSC   Ensembl
• Aliases: UP3A, UPIII, UPIIIA, UPK3
• Gene name: uroplakin 3A
• Alternate names: uroplakin-3a, uroplakin 3, uroplakin III,
• Gene location: 22q13.31 (45284948: 45295873)     Exons: 6     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 601970

Protein Summary

• Protein general information: O75631  
  • Name: Uroplakin 3a (UP3a) (Uroplakin III) (UPIII)
  • Length: 287  
  • Mass: 30670
  • Tissue specificity: Expressed in ureter. {ECO
• Sequence:

  MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHEVYLYVLVDSAISRNA
  SVQDSTNTPLGSTFLQTEGGRTGPYKAVAFDLIPCSDLPSLDAIGDVSKASQILNAYLVRVGANGTCLWDPNFQG
  LCNAPLSAATEYRFKYVLVNMSTGLVEDQTLWSDPIRTNQLTPYSTIDTWPGRRSGGMIVITSILGSLPFFLLVG
  FAGAIALSLVDMGSSDGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVYSSKLQD

• Structural information:
  • Interpro: IPR024831  IPR024825  
  • STRING: ENSP00000216211
• Other Databases: GeneCards:  UPK3A  Malacards:  UPK3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015840	urea transport	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0006833	water transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000902	cell morphogenesis	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0015840	urea transport	IEA	biological process
GO:0055075	potassium ion homeostasis	IEA	biological process
GO:0060157	urinary bladder development	IEA	biological process
GO:0120001	apical plasma membrane urothelial plaque	IEA	cellular component
GO:0006833	water transport	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0055078	sodium ion homeostasis	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030855	epithelial cell differentiation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05219	Bladder cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq