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Aliases for UPK3A Gene

Aliases for UPK3A Gene

  • Uroplakin 3A 2 3 5
  • Uroplakin III 3 4
  • Uroplakin 3 2 3
  • UPIII 3 4
  • UP3A 3 4
  • UPK3 3 4
  • Uroplakin-3a 3
  • UPIIIA 3

External Ids for UPK3A Gene

Previous HGNC Symbols for UPK3A Gene

  • UPK3

Previous GeneCards Identifiers for UPK3A Gene

  • GC22P043957
  • GC22P044001
  • GC22P044059
  • GC22P045680
  • GC22P028626

Summaries for UPK3A Gene

Entrez Gene Summary for UPK3A Gene

  • This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

GeneCards Summary for UPK3A Gene

UPK3A (Uroplakin 3A) is a Protein Coding gene. Diseases associated with UPK3A include Renal Agenesis, Unilateral and Upk3a-Related Renal Adysplasia. Among its related pathways are Bladder cancer.

UniProtKB/Swiss-Prot for UPK3A 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).

Gene Wiki entry for UPK3A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UPK3A Gene

Genomics for UPK3A Gene

Regulatory Elements for UPK3A Gene

Enhancers for UPK3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F045279 1.2 Ensembl ENCODE 47.4 -4.1 -4079 3.8 MLX ARID4B DMAP1 ZNF121 KLF7 FOS SP5 JUNB PPARG ETV4 UPK3A NUP50 RPS10P31
GH22F045283 0.9 ENCODE 44 +1.0 980 4.8 PKNOX1 ZFP64 ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 GATA4 ZNF366 FOS UPK3A FAM118A
GH22F045261 1.3 Ensembl ENCODE 17.7 -22.1 -22082 3.4 HDGF PKNOX1 MLX WRNIP1 SIN3A ARID4B DMAP1 ZNF48 GLIS2 ELK1 UPK3A KIAA0930 MIR1249 NUP50-AS1 FAM118A LOC105373065
GH22F045244 1.6 FANTOM5 Ensembl ENCODE 11.1 -37.7 -37657 5.6 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 GATA2 ELK1 ZNF143 FOS MIR1249 NUP50 NUP50-AS1 UPK3A RIBC2 SMC1B LINC01589 ENSG00000273243 KIAA0930 LOC105373065
GH22F045312 1.2 Ensembl ENCODE 12.2 +29.0 28950 2.5 TBP HDAC1 PKNOX1 ARNT TBL1XR1 NFRKB ARID4B SIN3A FEZF1 ZBTB40 UPK3A RIBC2 FAM118A PIR56516
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UPK3A on UCSC Golden Path with GeneCards custom track

Promoters for UPK3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001844183 -82 601 ZNF366 FOS PRDM1 ZBTB20

Genomic Location for UPK3A Gene

Chromosome:
22
Start:
45,284,982 bp from pter
End:
45,295,879 bp from pter
Size:
10,898 bases
Orientation:
Plus strand

Genomic View for UPK3A Gene

Genes around UPK3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPK3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPK3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPK3A Gene

Proteins for UPK3A Gene

  • Protein details for UPK3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75631-UPK3A_HUMAN
    Recommended name:
    Uroplakin-3a
    Protein Accession:
    O75631
    Secondary Accessions:
    • B0QY25
    • O60261
    • Q32N05
    • Q5TII6

    Protein attributes for UPK3A Gene

    Size:
    287 amino acids
    Molecular mass:
    30670 Da
    Quaternary structure:
    • Heterodimer with uroplakin-1B (UPK1B).

    Alternative splice isoforms for UPK3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UPK3A Gene

Post-translational modifications for UPK3A Gene

  • Glycosylation at Asn 74, Asn 139, and Asn 170
  • Modification sites at PhosphoSitePlus

Other Protein References for UPK3A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UPK3A Gene

Domains & Families for UPK3A Gene

Protein Domains for UPK3A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UPK3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75631

UniProtKB/Swiss-Prot:

UPK3A_HUMAN :
  • Belongs to the uroplakin-3 family.
Family:
  • Belongs to the uroplakin-3 family.
genes like me logo Genes that share domains with UPK3A: view

No data available for Gene Families for UPK3A Gene

Function for UPK3A Gene

Molecular function for UPK3A 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).

Gene Ontology (GO) - Molecular Function for UPK3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with UPK3A: view
genes like me logo Genes that share phenotypes with UPK3A: view

Animal Models for UPK3A Gene

MGI Knock Outs for UPK3A:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for UPK3A Gene

Localization for UPK3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for UPK3A Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER). {ECO:0000250}.

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 UPK3A gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 3
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for UPK3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with UPK3A: view

Pathways & Interactions for UPK3A Gene

SuperPathways for UPK3A Gene

SuperPathway Contained pathways
1 Bladder cancer
genes like me logo Genes that share pathways with UPK3A: view

Pathways by source for UPK3A Gene

1 KEGG pathway for UPK3A Gene

Gene Ontology (GO) - Biological Process for UPK3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001822 kidney development IEA --
GO:0006833 water transport IEA --
GO:0015840 urea transport IEA --
GO:0030855 epithelial cell differentiation IDA 10514386
genes like me logo Genes that share ontologies with UPK3A: view

No data available for SIGNOR curated interactions for UPK3A Gene

Transcripts for UPK3A Gene

mRNA/cDNA for UPK3A Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UPK3A Gene

Uroplakin 3A:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UPK3A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: - -

Relevant External Links for UPK3A Gene

GeneLoc Exon Structure for
UPK3A
ECgene alternative splicing isoforms for
UPK3A

Expression for UPK3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UPK3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UPK3A Gene

This gene is overexpressed in Bladder (x36.4), Prostate (x5.9), and Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for UPK3A Gene

This gene is overexpressed in Urine (36.6) and Urinary Bladder (32.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UPK3A Gene



Protein tissue co-expression partners for UPK3A Gene

NURSA nuclear receptor signaling pathways regulating expression of UPK3A Gene:

UPK3A

SOURCE GeneReport for Unigene cluster for UPK3A Gene:

Hs.632787

mRNA Expression by UniProt/SwissProt for UPK3A Gene:

O75631-UPK3A_HUMAN
Tissue specificity: Expressed in ureter.
genes like me logo Genes that share expression patterns with UPK3A: view

Primer Products

Orthologs for UPK3A Gene

This gene was present in the common ancestor of chordates.

Orthologs for UPK3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UPK3A 34 35
  • 97.08 (n)
cow
(Bos Taurus)
Mammalia UPK3A 34 35
  • 86.06 (n)
dog
(Canis familiaris)
Mammalia UPK3A 34 35
  • 84.9 (n)
mouse
(Mus musculus)
Mammalia Upk3a 34 16 35
  • 84.04 (n)
rat
(Rattus norvegicus)
Mammalia Upk3a 34
  • 83.45 (n)
oppossum
(Monodelphis domestica)
Mammalia UPK3A 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPK3A 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPK3A 34 35
  • 56.4 (n)
lizard
(Anolis carolinensis)
Reptilia UPK3A 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia upk3a 34
  • 51.4 (n)
Species where no ortholog for UPK3A 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for UPK3A Gene

ENSEMBL:
Gene Tree for UPK3A (if available)
TreeFam:
Gene Tree for UPK3A (if available)

Paralogs for UPK3A Gene

No data available for Paralogs for UPK3A Gene

Variants for UPK3A Gene

Sequence variations from dbSNP and Humsavar for UPK3A Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs786205558 Likely pathogenic 45,285,940(+) CTCCA(A/G)CTGTG splice-acceptor-variant
rs121918186 Uncertain significance 45,295,673(+) GGGGC(C/T)GCCAC reference, missense
rs121918187 Uncertain significance 45,293,214(+) GCCAG(A/G)CCGGC reference, missense
rs558490093 Uncertain significance 45,295,826(+) GCTTG(C/T)CCCTC utr-variant-3-prime
rs1057353 -- 45,287,423(+) GTAAC(C/G)CACCC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for UPK3A Gene

Variant ID Type Subtype PubMed ID
esv2758843 CNV gain 17122850
esv34218 CNV gain 17911159
esv3647921 CNV gain 21293372
esv3647922 CNV gain 21293372
nsv1066204 CNV gain 25217958
nsv508741 CNV insertion 20534489
nsv829278 CNV loss 20364138
nsv955174 CNV deletion 24416366
nsv9921 CNV gain+loss 18304495

Variation tolerance for UPK3A Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UPK3A Gene

Human Gene Mutation Database (HGMD)
UPK3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPK3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UPK3A Gene

Disorders for UPK3A Gene

MalaCards: The human disease database

(31) MalaCards diseases for UPK3A Gene - From: GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
renal agenesis, unilateral
upk3a-related renal adysplasia
  • upk3a-related hereditary renal aplasia
renal pelvis transitional cell carcinoma
  • urothelial cell carcinoma of renal pelvis
transitional cell carcinoma
  • transitional carcinoma
malignant ovarian brenner tumor
  • brenner tumor, malignant
- elite association - COSMIC cancer census association via MalaCards
Search UPK3A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UPK3A_HUMAN
  • Note=Mutations in UPK3A have been detected in patients with renal adyplasia suggesting a possible involvement of this gene in kidney and urinary tract anomalies.

Relevant External Links for UPK3A

Genetic Association Database (GAD)
UPK3A
Human Genome Epidemiology (HuGE) Navigator
UPK3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UPK3A
genes like me logo Genes that share disorders with UPK3A: view

No data available for Genatlas for UPK3A Gene

Publications for UPK3A Gene

  1. Expression of uroplakin Ib and uroplakin III genes in tissues and peripheral blood of patients with transitional cell carcinoma. (PMID: 9818021) Yuasa T. … Okada Y. (Jpn. J. Cancer Res. 1998) 2 3 4 64
  2. Uroplakin gene expression by normal and neoplastic human urothelium. (PMID: 9846985) Lobban E.D. … Southgate J. (Am. J. Pathol. 1998) 3 4 22 64
  3. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. (PMID: 19959718) Cordell H.J. … Goodship J.A. (J. Am. Soc. Nephrol. 2010) 3 46 64
  4. Loss expression of uroplakin III is associated with clinicopathologic features of aggressive bladder cancer. (PMID: 18313120) Matsumoto K. … Baba S. (Urology 2008) 3 22 64
  5. Uroplakin III-delta4 messenger RNA as a promising marker to identify nonulcerative interstitial cystitis. (PMID: 17698128) Zeng Y. … Kakehi Y. (J. Urol. 2007) 3 22 64

Products for UPK3A Gene

Sources for UPK3A Gene

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