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UPK3A uroplakin 3A [ Homo sapiens (human) ]

Gene ID: 7380, updated on 7-Sep-2023

Summary

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Official Symbol
UPK3Aprovided by HGNC
Official Full Name
uroplakin 3Aprovided by HGNC
Primary source
HGNC:HGNC:12580
See related
Ensembl:ENSG00000100373 MIM:611559; AllianceGenome:HGNC:12580
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UP3A; UPK3; UPIII; UPIIIA
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 variants have been described.[provided by RefSeq, Nov 2009]
Expression
Biased expression in prostate (RPKM 9.1), urinary bladder (RPKM 5.3) and 4 other tissues See more
Orthologs
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Genomic context

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See UPK3A in Genome Data Viewer
Location:
22q13.31
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45284949..45295874)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45770156..45781101)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45680830..45691755)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:45598280 Neighboring gene KIAA0930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45606871-45607371 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45607503-45608052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45608053-45608602 Neighboring gene microRNA 1249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45619103-45619604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45619605-45620104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45620306-45621300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45621301-45622293 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:45629066 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:45631393 Neighboring gene HNF1 motif-containing MPRA enhancer 63 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45659291-45660126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45665375-45666026 Neighboring gene ribosomal protein S10 pseudogene 31 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45686240-45686773 Neighboring gene Sharpr-MPRA regulatory region 10691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45706877-45707685 Neighboring gene family with sequence similarity 118 member A Neighboring gene structural maintenance of chromosomes 1B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Uroplakin IIIa Is a Marker in Bladder Cancer but Seems Not to Reflect Chemical Carcinogenesis. Szymańska B, et al. Biomed Res Int, 2018. PMID 30069482, Free PMC Article
  2. High expression level of preoperative serum Uroplakin III is associated with biologically aggressive bladder cancer. Tsumura H, et al. Asian Pac J Cancer Prev, 2015. PMID 25743828
  3. Value of uroplakin III in distinguishing variants of primary bladder urothelial carcinoma from malignancy metastatic to the urinary bladder. Klopfer K, et al. Anticancer Res, 2014 Nov. PMID 25368291
  4. Significance of uroplakin III expression in recurrence of solitary muscle non-invasive bladder cancer. Tadin T, et al. Pathol Res Pract, 2014 May. PMID 24553301
  5. Bacteria-induced uroplakin signaling mediates bladder response to infection. Thumbikat P, et al. PLoS Pathog, 2009 May. PMID 19412341, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High Expression of UPK3A Promotes the Progression of Gastric Cancer Cells by Inactivating p53 Pathway.
    Title: High Expression of UPK3A Promotes the Progression of Gastric Cancer Cells by Inactivating p53 Pathway.
  2. UPIIIa is a biomarker for bladder cancer that is unrelated to chemical carcinogenesis
    Title: Uroplakin IIIa Is a Marker in Bladder Cancer but Seems Not to Reflect Chemical Carcinogenesis.
  3. High expression level of preoperative serum Uroplakin III is associated with biologically aggressive bladder cancer.
    Title: High expression level of preoperative serum Uroplakin III is associated with biologically aggressive bladder cancer.
  4. High Uroplakin III expression is associated with bladder urothelial carcinoma from malignancy metastatic to the urinary bladder.
    Title: Value of uroplakin III in distinguishing variants of primary bladder urothelial carcinoma from malignancy metastatic to the urinary bladder.
  5. a strong association between UPIII and in the group with tumor recurrence
    Title: Significance of uroplakin III expression in recurrence of solitary muscle non-invasive bladder cancer.
  6. studies suggest that bacteria-induced UPIIIa signaling is a critical mediator of bladder responses to insult by uropathogenic E. coli
    Title: Bacteria-induced uroplakin signaling mediates bladder response to infection.
  7. Uroplakin III plays a pivotal role in Eshcerichia coli UTI pathogenesis.
    Title: Differentiation-induced uroplakin III expression promotes urothelial cell death in response to uropathogenic E. coli.
  8. Loss of UP III expression is associated with established markers of biologically aggressive bladder cancer
    Title: Loss expression of uroplakin III is associated with clinicopathologic features of aggressive bladder cancer.
  9. Not a useful immunohistochemical marker for detection of pleural malignant mesothelioma.
    Title: Uroplakin is not a reliable immunohistochemical marker for malignant mesothelioma of the pleura.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat FITC-labeled Tat 47-59 peptide downregulates gene expression of uroplakin 3A (UPK3A) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC119178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in urea transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in urinary bladder development IEA
Inferred from Electronic Annotation
more info
  
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane urothelial plaque IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
uroplakin-3a
Names
uroplakin 3
uroplakin III

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016203.2 RefSeqGene

    Range
    4963..15888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167574.2 → NP_001161046.1  uroplakin-3a isoform 2 precursor

    See identical proteins and their annotated locations for NP_001161046.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL008718, BC069544, BM681088
    Consensus CDS
    CCDS54539.1
    UniProtKB/Swiss-Prot
    O75631
    Related
    ENSP00000379391.2, ENST00000396082.2
    Conserved Domains (1) summary
    cl06408
    Location:17 → 107
    UP_III_II; Uroplakin IIIb, IIIa and II

  2. NM_006953.4 → NP_008884.1  uroplakin-3a isoform 1 precursor

    See identical proteins and their annotated locations for NP_008884.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB010637, AL008718, BC069544, BM681088
    Consensus CDS
    CCDS14064.1
    UniProtKB/Swiss-Prot
    B0QY25, O60261, O75631, Q32N05, Q5TII6
    Related
    ENSP00000216211.4, ENST00000216211.9
    Conserved Domains (1) summary
    cd09970
    Location:17 → 228
    UP_IIIa; Uroplakin IIIa

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    45284949..45295874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    45770156..45781101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75631.3 GenPept UniProtKB/Swiss-Prot:O75631

Gene LinkOut

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