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UPK3A uroplakin 3A [ Homo sapiens (human) ]

Gene ID: 7380, updated on 3-May-2025
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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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

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
acts_upstream_of_or_within cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within kidney development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within sodium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in urea transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within urea transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within urinary bladder development IEA
Inferred from Electronic Annotation
more info
 
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within water transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in apical plasma membrane urothelial plaque IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum 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 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
uroplakin-3a
Names
uroplakin 3
uroplakin III

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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_001167574.2NP_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:17107
    UP_III_II; Uroplakin IIIb, IIIa and II
  2. NM_006953.4NP_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:17228
    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)