UPK1A uroplakin 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: UPK1Aprovided by HGNC
Official Full Name: uroplakin 1Aprovided by HGNC
Primary source: HGNC:HGNC:12577
See related: Ensembl:ENSG00000105668 MIM:611557; AllianceGenome:HGNC:12577
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: UP1A; UPIA; UPKA; TSPAN21
Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Expression: Biased expression in urinary bladder (RPKM 34.0), esophagus (RPKM 7.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35666517..35678481)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38211498..38223458)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36157419..36169383)

Chromosome 19 - NC_000019.10 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

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1.
Title: Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1.
Large-scale human tissue analysis identifies Uroplakin 1a as a putative diagnostic marker for urothelial cancer.
Title: Large-scale human tissue analysis identifies Uroplakin 1a as a putative diagnostic marker for urothelial cancer.
Long Noncoding RNA Expression Profiling Reveals Upregulation of Uroplakin 1A and Uroplakin 1A Antisense RNA 1 under Hypoxic Conditions in Lung Cancer Cells.
Title: Long Noncoding RNA Expression Profiling Reveals Upregulation of Uroplakin 1A and Uroplakin 1A Antisense RNA 1 under Hypoxic Conditions in Lung Cancer Cells.
Down-regulation of UPK1A suppresses proliferation and enhances apoptosis of bladder transitional cell carcinoma cells.
Title: Downregulation of UPK1A suppresses proliferation and enhances apoptosis of bladder transitional cell carcinoma cells.
expression of UPKIa was a promising predictor for poor outcome of colorectal cancer patients
Title: Decreased expression of uroplakin Ia is associated with colorectal cancer progression and poor survival of patients.
Reduced expression of uroplakin 1A is associated with gastric adenocarcinoma.
Title: Reduced expression of uroplakin 1A is associated with the poor prognosis of gastric adenocarcinoma patients.
Loss of UPK1A is associated with esophageal squamous cell carcinoma.
Title: Characterization of a candidate tumor suppressor gene uroplakin 1A in esophageal squamous cell carcinoma.
The authors show by cryo-electron microscopy that FimH binding to the extracellular domain of UP Ia induces global conformational changes in the entire UP receptor complex, including a coordinated movement of the tightly bundled transmembrane helices.
Title: Uropathogenic E. coli adhesin-induced host cell receptor conformational changes: implications in transmembrane signaling transduction.
Observational study of gene-disease association. (HuGE Navigator)
Title: Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity.
uroplakin Ia is expressed in urinary bladder transitional cell carcinoma
Title: High expression of human uroplakin Ia in urinary bladder transitional cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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	HIV-1 Tat downregulates uroplakin 1A in HEK 293T cells	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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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 epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane urothelial plaque	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: uroplakin-1a

Names: tetraspanin-21; tspan-21; uroplakin Ia

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.

mRNA and Protein(s)

NM_001281443.2 → NP_001268372.1 uroplakin-1a isoform 2

See identical proteins and their annotated locations for NP_001268372.1

Status: REVIEWED

Source sequence(s)

AC002115

Consensus CDS

CCDS62640.1

UniProtKB/Swiss-Prot

O00322

Related

ENSP00000368298.1, ENST00000379013.6

Conserved Domains (1) summary

cd03156
Location:112 → 216

uroplakin_I_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), uroplakin_I_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
NM_007000.4 → NP_008931.1 uroplakin-1a isoform 1

See identical proteins and their annotated locations for NP_008931.1

Status: REVIEWED

Source sequence(s)

AC002115

Consensus CDS

CCDS12470.1

UniProtKB/Swiss-Prot

O00322, Q3KNU5, Q3KNU6

Related

ENSP00000222275.2, ENST00000222275.3

Conserved Domains (2) summary

cd03156
Location:112 → 230

uroplakin_I_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), uroplakin_I_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

pfam00335
Location:24 → 255

Tetraspannin; Tetraspanin family