UPK3A uroplakin 3A [Homo sapiens (human)] - Gene

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483937

NoName (e-PCR)
- UniSTS:481788

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 more info	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

NG_016203.2 RefSeqGene

Range

4963..15888

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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