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UPK3B uroplakin 3B [ Homo sapiens (human) ]

Gene ID: 105375355, updated on 11-Apr-2024

Summary

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Official Symbol
UPK3Bprovided by HGNC
Official Full Name
uroplakin 3Bprovided by HGNC
Primary source
HGNC:HGNC:21444
See related
Ensembl:ENSG00000243566 MIM:611887; AllianceGenome:HGNC:21444
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P35; UP3B; UPIIIB
Summary
UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in lung (RPKM 16.8), urinary bladder (RPKM 3.5) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
7q11.23
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76510552..76516522)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77801851..77807105)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76139869..76145839)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76035061-76035561 Neighboring gene scavenger receptor cysteine rich family member with 4 domains Neighboring gene Sharpr-MPRA regulatory region 7220 Neighboring gene Sharpr-MPRA regulatory region 8731 Neighboring gene zona pellucida glycoprotein 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76073005-76073916 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76073917-76074826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76085525-76086398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76114631-76115532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76115533-76116434 Neighboring gene deltex E3 ubiquitin ligase 2 Neighboring gene farnesyl diphosphate synthase pseudogene 2 Neighboring gene uncharacterized LOC124901675 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:76138251-76138456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76139334-76139906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76139907-76140479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76141233-76141884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76141885-76142536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76142537-76143186 Neighboring gene speedy/RINGO cell cycle regulator family member E16 Neighboring gene long intergenic non-protein coding RNA 3009 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76234980-76235481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76235482-76235982 Neighboring gene 7q11.23 distal recombination region Neighboring gene POM121 and ZP3 fusion

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. LRRN4 and UPK3B are markers of primary mesothelial cells. Kanamori-Katayama M, et al. PLoS One, 2011. PMID 21984916, Free PMC Article
  2. Origin of the tetraspanin uroplakins and their co-evolution with associated proteins: implications for uroplakin structure and function. Garcia-España A, et al. Mol Phylogenet Evol, 2006 Nov. PMID 16814572
  3. Uroplakin IIIb, a urothelial differentiation marker, dimerizes with uroplakin Ib as an early step of urothelial plaque assembly. Deng FM, et al. J Cell Biol, 2002 Nov 25. PMID 12446744, Free PMC Article
  4. Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. Moayyeri A, et al. Hum Mol Genet, 2014 Jun 1. PMID 24430505, Free PMC Article
  5. Regulation of the divalent metal ion transporter DMT1 and iron homeostasis by a ubiquitin-dependent mechanism involving Ndfips and WWP2. Foot NJ, et al. Blood, 2008 Nov 15. PMID 18776082

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ32198, FLJ75011, MGC10902

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
uroplakin-3b
Names
uroplakin IIIb

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)

  1. NM_001347684.2 → NP_001334613.1  uroplakin-3b isoform d precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) is alternatively spliced at the 5' end, differs in the 3' UTR and contains an additional internal exon, which causes a frame-shift compared to variant 1. The resulting isoform (d) lacks a protein segment in the N-terminal region and has a distinct C-terminus compared to isoform a. This variant is annotated on the GRCh38 primary human reference genome assembly.
    Source sequence(s)
    AC004980, AC007078
    Consensus CDS
    CCDS87512.1
    UniProtKB/Swiss-Prot
    Q9BT76
    Related
    ENSP00000334938.3, ENST00000334348.8

  2. NM_030570.3 → NP_085047.1  uroplakin-3b isoform a precursor

    See identical proteins and their annotated locations for NP_085047.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). This variant is annotated on the ALT_REF_LOCI_1 alternate haplotype of the GRCh38 human reference genome assembly.
    Source sequence(s)
    BC004304, BE615406, BP352210, BU150542
    UniProtKB/Swiss-Prot
    A6NHH5, A8K231, A8MZA8, B3KPU5, Q75MM5, Q86W06, Q9BT76
    Conserved Domains (1) summary
    cl06408
    Location:84 → 209
    UP_III_II; Uroplakin IIIb, IIIa and II

  3. NM_182683.2 → NP_872624.1  uroplakin-3b isoform c precursor

    See identical proteins and their annotated locations for NP_872624.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) is alternatively spliced at the 5' end compared to variant 1, which results in a shorter isoform (c) lacking a protein segment in the N-terminal region compared to isoform a. This variant is annotated on the ALT_REF_LOCI_1 alternate haplotype of the GRCh38 human reference genome assembly.
    Source sequence(s)
    AY233462, BE615406, BP352210, BU150542
    UniProtKB/Swiss-Prot
    A6NHH5, A8K231, A8MZA8, B3KPU5, Q75MM5, Q86W06, Q9BT76
    UniProtKB/TrEMBL
    A0A0J9YVS6
    Conserved Domains (1) summary
    cl06408
    Location:29 → 154
    UP_III_II; Uroplakin IIIb, IIIa and II

  4. NM_182684.2 → NP_872625.1  uroplakin-3b isoform b precursor

    See identical proteins and their annotated locations for NP_872625.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) is alternatively spliced at the 5' end and contains an additional internal exon, which causes a frame-shift compared to variant 1. The resulting isoform (b) lacks a protein segment in the N-terminal region and has a distinct C-terminus compared to isoform a. This variant is annotated on the ALT_REF_LOCI_1 alternate haplotype of the GRCh38 human reference genome assembly.
    Source sequence(s)
    AY233462, BE615406, BP352210, BU150542
    UniProtKB/Swiss-Prot
    Q9BT76
    Conserved Domains (1) summary
    cd09969
    Location:29 → 202
    UP_IIIb; Uroplakin IIIb

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    76510552..76516522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187561.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    9510..14763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77801851..77807105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BT76.2 GenPept UniProtKB/Swiss-Prot:Q9BT76

Gene LinkOut

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Chemical Information
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