• Gene id: 11045

Gene Summary

• Gene Symbol: UPK1A   Gene   UCSC   Ensembl
• Aliases: TSPAN21, UP1A, UPIA, UPKA
• Gene name: uroplakin 1A
• Alternate names: uroplakin-1a, tetraspanin-21, tspan-21, uroplakin Ia,
• Gene location: 19q13.12 (35666515: 35678484)     Exons: 9     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate
• OMIM: 611557

Protein Summary

• Protein general information: O00322  
  • Name: Uroplakin 1a (UP1a) (Tetraspanin 21) (Tspan 21) (Uroplakin Ia) (UPIa) (UPKa)
  • Length: 258  
  • Mass: 28879
  • Tissue specificity: High expression restricted to ureteric urothelium (most superficial cells); low expression in prostate. Expression in normal urothelial cells is lost in culture. Some expression in tumor cell lines derived from urothelial malignancies.
• Sequence:

  MASAAAAEAEKGSPVVVGLLVVGNIIILLSGLSLFAETIWVTADQYRVYPLMGVSGKDDVFAGAWIAIFCGFSFF
  MVASFGVGAALCRRRSMVLTYLVLMLIVYIFECASCITSYTHRDYMVSNPSLITKQMLTFYSADTDQGQELTRLW
  DRVMIEQECCGTSGPMDWVNFTSAFRAATPEVVFPWPPLCCRRTGNFIPLNEEGCRLGHMDYLFTKGCFEHIGHA
  IDSYTWGISWFGFAILMWTLPVMLIAMYFYTML

• Structural information:
  • Interpro: IPR000301  IPR018499  IPR008952  IPR034765  
  • STRING: ENSP00000478942
• Other Databases: GeneCards:  UPK1A  Malacards:  UPK1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0120001	apical plasma membrane urothelial plaque	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030855	epithelial cell differentiation	IDA	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0032991	protein-containing complex	ISS	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881