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    UPK3A uroplakin 3A [ Homo sapiens (human) ]

    Gene ID: 7380, updated on 2-Nov-2024

    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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45284949..45295874)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45770156..45781101)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 19218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13878 Neighboring gene HNF1 motif-containing MPRA enhancer 63 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45659291-45660126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45665375-45666026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13880 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 ATAC-STARR-seq lymphoblastoid silent region 13881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45706877-45707685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19227 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 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 gene expression in normal human tissues and locally advanced bladder cancer. Olsburgh J, et al. J Pathol, 2003 Jan. PMID 12474225
    2. 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
    3. 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
    4. 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
    5. 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

    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
    		  
    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
    		  
    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
    		  

    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_2024_08

    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

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