UPK1B uroplakin 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: UPK1Bprovided by HGNC
Official Full Name: uroplakin 1Bprovided by HGNC
Primary source: HGNC:HGNC:12578
See related: Ensembl:ENSG00000114638 MIM:602380; AllianceGenome:HGNC:12578
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: UPIB; UPK1; TSPAN20
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 form a 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 use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in urinary bladder (RPKM 15.8), stomach (RPKM 12.4) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (119173598..119205143)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (121893335..121924859)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (118892445..118923990)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KRT13 and UPK1B for differential diagnosis between metastatic lung carcinoma from oral squamous cell carcinoma and lung squamous cell carcinoma.
Title: KRT13 and UPK1B for differential diagnosis between metastatic lung carcinoma from oral squamous cell carcinoma and lung squamous cell carcinoma.
NAA10 promotes proliferation of renal cell carcinoma by upregulating UPK1B.
Title: NAA10 promotes proliferation of renal cell carcinoma by upregulating UPK1B.
UPK1B is up-regulated in bladder cancer and is significantly correlated with tumor stage, lymph node metastasis and poor prognosis.
Title: UPK1B promotes the invasion and metastasis of bladder cancer via regulating the Wnt/β-catenin pathway.
Urine UPIb levels may be useful for predicting the risk of recurrent urinary tract infections in patients diagnosed with their first UTI and may also be considered as a noninvasive screening test for vesicoureteral reflux.
Title: The predictive value of urinary UPIb mRNA levels in VUR and recurrent urinary tract infections.
The biopsy-induced increase in the expression of UPIb and other genes encoding membrane proteins supports the possible importance of the membrane structure and stability during implantation.
Title: Endometrial biopsy-induced gene modulation: first evidence for the expression of bladder-transmembranal uroplakin Ib in human endometrium.
Loss of uroplakin Ib expression by CpG methylation of Sp1/NFkappaB-binding motifs within the proximal promoter is associated with urothelial tumors
Title: Uroplakin Ib gene transcription in urothelial tumor cells is regulated by CpG methylation.
Loss of uroplakin Ib expression is associated with bladder carcinomas
Title: Methylation of a CpG island within the uroplakin Ib promoter: a possible mechanism for loss of uroplakin Ib expression in bladder carcinoma.
established the genomic organization of the UPIb gene
Title: Human uroplakin lb gene structure and promoter analysis.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH120285 (e-PCR)
- UniSTS:132741

D16S325 (e-PCR)
- UniSTS:147089

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane urothelial plaque	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: uroplakin-1b

Names: UP1b; tetraspan; tetraspanin-20; tspan-20; uroplakin Ib

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_006952.4 → NP_008883.2 uroplakin-1b

See identical proteins and their annotated locations for NP_008883.2

Status: REVIEWED

Source sequence(s)

AB002155, AL709739

Consensus CDS

CCDS2985.1

UniProtKB/Swiss-Prot

O60753, O75841, Q9UIM2, Q9UNX6

UniProtKB/TrEMBL

B2R9H7, Q6IAS0

Related

ENSP00000264234.3, ENST00000264234.8

Conserved Domains (2) summary

cd03156
Location:118 → 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:10 → 258

Tetraspannin; Tetraspanin family