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UPK3A uroplakin 3A [ Homo sapiens (human) ]

Gene ID: 7380, updated on 21-Dec-2019

Summary

Official Symbol
UPK3Aprovided by HGNC
Official Full Name
uroplakin 3Aprovided by HGNC
Primary source
HGNC:HGNC:12580
See related
Ensembl:ENSG00000100373 MIM:611559
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

Genomic context

See UPK3A in Genome Data Viewer
Location:
22q13.31
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (45284949..45295874)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45680868..45691755)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene HNF1 motif-containing MPRA enhancer 63 Neighboring gene ribosomal protein S10 pseudogene 31 Neighboring gene family with sequence similarity 118 member A Neighboring gene structural maintenance of chromosomes 1B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119178

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
uroplakin-3a
Names
uroplakin 3
uroplakin III

NCBI Reference Sequences (RefSeq)

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
    O75631
    Related
    ENSP00000216211.4, ENST00000216211.9
    Conserved Domains (1) summary
    cd09970
    Location:17228
    UP_IIIa; Uroplakin IIIa

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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