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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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