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Aliases for UPK3B Gene

Aliases for UPK3B Gene

  • Uroplakin 3B 2 3 5
  • Uroplakin IIIb 2 3 4
  • UPIIIB 3 4
  • UP3B 3 4
  • P35 3 4
  • Uroplakin-3b 3

External Ids for UPK3B Gene

Previous GeneCards Identifiers for UPK3B Gene

  • GC07P074676
  • GC07P075738
  • GC07P075751
  • GC07P075784
  • GC07P075977
  • GC07P076139
  • GC07P071187
  • GC07Pi00009

Summaries for UPK3B Gene

Entrez Gene Summary for UPK3B Gene

  • 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]

GeneCards Summary for UPK3B Gene

UPK3B (Uroplakin 3B) is a Protein Coding gene. An important paralog of this gene is ENSG00000205236.

UniProtKB/Swiss-Prot for UPK3B Gene

  • Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity).

Additional gene information for UPK3B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UPK3B Gene

Genomics for UPK3B Gene

GeneHancer (GH) Regulatory Elements for UPK3B Gene

Promoters and enhancers for UPK3B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I076509 Enhancer 1 Ensembl ENCODE dbSUPER 591.2 +0.2 220 1 CTCF KLF1 MAZ SP3 BACH1 ZIC2 RAD21 GLIS2 POLR2A GLIS1 UPK3B ENSG00000250778
GH07I076508 Enhancer 0.8 Ensembl ENCODE 592.4 -1.8 -1802 0.6 BCOR ZNF146 PKNOX1 USF2 MAX CEBPB ZMYM3 CEBPG MITF POLR2B UPK3B ENSG00000250614
GH07I076420 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.4 -87.1 -87134 5.4 PKNOX1 SIN3A NFXL1 BMI1 BRCA1 RFX5 ZEB1 ZNF121 ZNF366 SCRT2 ZP3 UPK3B POMZP3 SRRM3 LOC100133091 SSC4D DTX2
GH07I076548 Promoter/Enhancer 1.5 Ensembl ENCODE 28.3 +39.5 39511 2 HDGF ARNT ARID4B SIN3A DMAP1 POLR2B ZNF207 ZNF143 SP3 JUNB LOC100133091 ZP3 UPK3B POMZP3 PIR43157
GH07I076395 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.8 -113.2 -113197 2.8 HDGF PKNOX1 SMAD1 ARNT SIN3A YY1 POLR2B ZNF263 SP3 REST ZP3 POMZP3 UPK3B SPDYE5 LOC100133091 SSC4D PPIAP81
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UPK3B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UPK3B gene promoter:

Genomic Locations for UPK3B Gene

Genomic Locations for UPK3B Gene
chr7:76,510,102-76,524,424
(GRCh38/hg38)
Size:
14,323 bases
Orientation:
Plus strand
chr7:76,139,745-76,648,340
(GRCh37/hg19)

Genomic View for UPK3B Gene

Genes around UPK3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPK3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPK3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPK3B Gene

Proteins for UPK3B Gene

  • Protein details for UPK3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT76-UPK3B_HUMAN
    Recommended name:
    Uroplakin-3b
    Protein Accession:
    Q9BT76
    Secondary Accessions:
    • A6NHH5
    • A8K231
    • A8MZA8
    • B3KPU5
    • Q75MM5
    • Q86W06

    Protein attributes for UPK3B Gene

    Size:
    320 amino acids
    Molecular mass:
    33882 Da
    Quaternary structure:
    • Heterodimer with uroplakin-1B (UPK1B).
    SequenceCaution:
    • Sequence=AAO89507.1; Type=Frameshift; Positions=210; Evidence={ECO:0000305}; Sequence=AAS07526.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for UPK3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UPK3B Gene

Post-translational modifications for UPK3B Gene

  • Glycosylation at posLast=133133
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UPK3B Gene

Domains & Families for UPK3B Gene

Gene Families for UPK3B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for UPK3B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UPK3B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BT76

UniProtKB/Swiss-Prot:

UPK3B_HUMAN :
  • Belongs to the uroplakin-3 family.
Family:
  • Belongs to the uroplakin-3 family.
genes like me logo Genes that share domains with UPK3B: view

Function for UPK3B Gene

Molecular function for UPK3B Gene

UniProtKB/Swiss-Prot Function:
Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity).

Phenotypes From GWAS Catalog for UPK3B Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UPK3B Gene

Localization for UPK3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for UPK3B Gene

Cell membrane; Single-pass type I membrane protein. Note=Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER). {ECO:0000269 PubMed:12446744}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UPK3B gene
Compartment Confidence
extracellular 5
plasma membrane 3
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UPK3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with UPK3B: view

Pathways & Interactions for UPK3B Gene

SuperPathways for UPK3B Gene

No Data Available

Gene Ontology (GO) - Biological Process for UPK3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010629 negative regulation of gene expression IMP 18776082
genes like me logo Genes that share ontologies with UPK3B: view

No data available for Pathways by source and SIGNOR curated interactions for UPK3B Gene

Drugs & Compounds for UPK3B Gene

No Compound Related Data Available

Transcripts for UPK3B Gene

mRNA/cDNA for UPK3B Gene

(11) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UPK3B Gene

No ASD Table

Relevant External Links for UPK3B Gene

GeneLoc Exon Structure for
UPK3B
ECgene alternative splicing isoforms for
UPK3B

Expression for UPK3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UPK3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UPK3B Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x11.4), Bladder (x8.7), Esophagus - Mucosa (x8.4), and Lung (x5.7).

NURSA nuclear receptor signaling pathways regulating expression of UPK3B Gene:

UPK3B

Evidence on tissue expression from TISSUES for UPK3B Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with UPK3B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UPK3B Gene

Orthologs for UPK3B Gene

This gene was present in the common ancestor of chordates.

Orthologs for UPK3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UPK3B 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UPK3B 34
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPK3B 34
  • 44 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Upk3b 34
  • 43 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UPK3B 34
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UPK3B 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPK3B 34
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii upk3b 34
  • 15 (a)
OneToMany
Species where no ortholog for UPK3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UPK3B Gene

ENSEMBL:
Gene Tree for UPK3B (if available)
TreeFam:
Gene Tree for UPK3B (if available)

Paralogs for UPK3B Gene

Paralogs for UPK3B Gene

(3) SIMAP similar genes for UPK3B Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for UPK3B Gene

genes like me logo Genes that share paralogs with UPK3B: view

Variants for UPK3B Gene

Sequence variations from dbSNP and Humsavar for UPK3B Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000519632 -- 76,513,799(+) GGGGGG/GGGGGGG intron_variant
rs1000529514 -- 76,513,627(+) A/T intron_variant
rs1001518402 -- 76,514,829(+) C/T intron_variant
rs1001877179 -- 76,508,892(+) A/G upstream_transcript_variant
rs1002477699 -- 76,510,103(+) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for UPK3B Gene

Variant ID Type Subtype PubMed ID
dgv1118n67 CNV loss 20364138
dgv11464n54 CNV gain 21841781
dgv11465n54 CNV loss 21841781
dgv11466n54 CNV loss 21841781
dgv11467n54 CNV gain 21841781
dgv11468n54 CNV loss 21841781
dgv11469n54 CNV gain 21841781
dgv11470n54 CNV gain+loss 21841781
dgv11471n54 CNV gain 21841781
dgv11472n54 CNV loss 21841781
dgv120n16 CNV deletion 17901297
dgv1218e199 CNV deletion 23128226
dgv121n16 CNV insertion 17901297
dgv22n31 CNV gain 19718026
dgv232e55 CNV gain 17911159
dgv233e55 CNV loss 17911159
dgv234e55 CNV gain 17911159
dgv235e55 CNV loss 17911159
dgv63n64 CNV loss 17921354
dgv6470n100 CNV loss 25217958
dgv6471n100 CNV gain 25217958
dgv6472n100 CNV loss 25217958
dgv6473n100 CNV gain 25217958
dgv6474n100 CNV loss 25217958
dgv6475n100 CNV gain 25217958
dgv6476n100 CNV gain 25217958
dgv6477n100 CNV loss 25217958
dgv6478n100 CNV gain 25217958
dgv6479n100 CNV gain+loss 25217958
dgv6480n100 CNV gain 25217958
dgv82n82 CNV duplication 23825009
esv23516 CNV gain 19812545
esv23975 CNV gain+loss 19812545
esv2422494 CNV duplication 17116639
esv2577198 CNV loss 19546169
esv2666635 CNV deletion 23128226
esv2734687 CNV deletion 23290073
esv2761124 CNV gain 21179565
esv2764008 CNV gain+loss 21179565
esv32726 CNV gain+loss 17666407
esv33074 CNV gain 17666407
esv3613764 CNV loss 21293372
esv3613765 CNV gain 21293372
esv3613766 CNV loss 21293372
esv3613767 CNV loss 21293372
esv3613768 CNV gain 21293372
esv3891147 CNV gain+loss 25118596
nsv1034692 CNV gain+loss 25217958
nsv1074522 CNV deletion 25765185
nsv1126799 CNV deletion 24896259
nsv297 CNV deletion 15895083
nsv428174 CNV gain 18775914
nsv482107 CNV gain 20164927
nsv499137 CNV loss 21111241
nsv509211 CNV insertion 20534489
nsv510964 OTHER complex 20534489
nsv515047 CNV gain+loss 21397061
nsv517634 CNV gain+loss 19592680
nsv528969 CNV gain 19592680
nsv5797 CNV deletion 18451855
nsv607585 CNV gain 21841781
nsv607593 CNV gain 21841781
nsv607595 CNV gain 21841781
nsv607598 CNV loss 21841781
nsv607602 CNV loss 21841781
nsv607606 CNV gain+loss 21841781
nsv607613 CNV gain 21841781
nsv607619 CNV gain 21841781
nsv607620 CNV loss 21841781
nsv7403 OTHER inversion 18451855
nsv8160 CNV gain+loss 18304495
nsv821067 CNV deletion 20802225
nsv824175 CNV gain 20364138
nsv824177 CNV gain 20364138
nsv951360 CNV deletion 24416366

Variation tolerance for UPK3B Gene

Residual Variation Intolerance Score: 93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.36; 85.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UPK3B Gene

Human Gene Mutation Database (HGMD)
UPK3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPK3B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UPK3B Gene

Disorders for UPK3B Gene

Additional Disease Information for UPK3B

No disorders were found for UPK3B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UPK3B Gene

Publications for UPK3B Gene

  1. Uroplakin IIIb, a urothelial differentiation marker, dimerizes with uroplakin Ib as an early step of urothelial plaque assembly. (PMID: 12446744) Deng FM … Sun TT (The Journal of cell biology 2002) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for UPK3B Gene

Sources for UPK3B Gene

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