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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 Ovarian Brenner Tumor. 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

Additional gene information for UPK3A Gene

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

Genomics for UPK3A Gene

GeneHancer (GH) Regulatory Elements for UPK3A Gene

Promoters and enhancers for UPK3A 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
GH22I045283 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 594 +1.0 979 4.8 FOXA2 ZFP64 ARID4B DMAP1 RAD21 ZNF48 ZSCAN9 CEBPB MXD4 PPARG UPK3A FAM118A GC22M044704 GC22P045074 GC22M045121
GH22I045279 Enhancer 1.3 Ensembl ENCODE dbSUPER 47.4 -4.0 -4041 3.7 FOXA2 MLX ARID4B DMAP1 IRF4 ETS1 KLF7 FOS ATF7 RUNX3 UPK3A NUP50 RPS10P31 GC22M044704 GC22P045074 GC22M045121
GH22I045262 Enhancer 1.2 Ensembl ENCODE 17.7 -21.7 -21677 2.4 HDGF ATF1 MLX ARID4B SIN3A DMAP1 IRF4 ZNF48 GLIS2 ZNF143 ENSG00000273287 UPK3A KIAA0930 MIR1249 NUP50-AS1 FAM118A GC22M044704 GC22P045074 GC22M045121
GH22I045244 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -37.7 -37657 5.6 PKNOX1 FOXA2 MLX ARID4B SIN3A ETS1 YY1 ELK1 ATF7 FOS ENSG00000273243 MIR1249 NUP50 NUP50-AS1 UPK3A RIBC2 SMC1B FAM118A LINC01589 KIAA0930
GH22I045312 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.3 +28.9 28884 2.4 HDAC1 PKNOX1 SMAD1 TAF9B ARNT NFRKB ARID4B TCF12 GATA2 EGR1 UPK3A RIBC2 FAM118A PIR56516 GC22M044704 GC22P045074 GC22M045121
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UPK3A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UPK3A gene promoter:

Genomic Locations for UPK3A Gene

Genomic Locations for UPK3A Gene
chr22:45,284,982-45,295,879
(GRCh38/hg38)
Size:
10,898 bases
Orientation:
Plus strand
chr22:45,680,863-45,691,755
(GRCh37/hg19)

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 isoforms=74, isoforms=139, and posLast=170170

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

Gene Families for UPK3A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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

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).

Phenotypes From GWAS Catalog for UPK3A Gene

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:

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (1)
  • Nuclear membrane (1)
See all subcellular structures

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

Drugs & Compounds for UPK3A Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for UPK3A Gene

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 33 34
  • 97.08 (n)
cow
(Bos Taurus)
Mammalia UPK3A 33 34
  • 86.06 (n)
dog
(Canis familiaris)
Mammalia UPK3A 33 34
  • 84.9 (n)
mouse
(Mus musculus)
Mammalia Upk3a 33 16 34
  • 84.04 (n)
rat
(Rattus norvegicus)
Mammalia Upk3a 33
  • 83.45 (n)
oppossum
(Monodelphis domestica)
Mammalia UPK3A 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPK3A 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPK3A 33 34
  • 56.4 (n)
lizard
(Anolis carolinensis)
Reptilia UPK3A 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia upk3a 33
  • 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 Variation AA Info Type
rs1057353 likely-benign, Renal adysplasia 45,287,423(+) G/C coding_sequence_variant, intron_variant, missense_variant
rs1057356 likely-benign, Renal adysplasia 45,295,713(+) A/G coding_sequence_variant, synonymous_variant
rs112177270 uncertain-significance, Renal adysplasia 45,293,321(+) C/A/G intron_variant
rs1135360 likely-benign, Renal adysplasia 45,289,121(+) A/G coding_sequence_variant, intron_variant, synonymous_variant
rs115882180 likely-benign, Renal adysplasia 45,293,197(+) G/A coding_sequence_variant, synonymous_variant

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
nsv9921 CNV gain+loss 18304495
nsv955174 CNV deletion 24416366
nsv829278 CNV loss 20364138

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
renal agenesis, unilateral
  • unilateral renal agenesis
ovarian brenner tumor
  • benign ovarian brenner tumor
renal pelvis transitional cell carcinoma
  • urothelial cell carcinoma of renal pelvis
transitional cell carcinoma
  • transitional carcinoma
radiation cystitis
  • irradiation cystitis
- 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.

Additional Disease Information for UPK3A

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

No data available for Genatlas for UPK3A Gene

Publications for UPK3A Gene

  1. Uroplakin gene expression by normal and neoplastic human urothelium. (PMID: 9846985) Lobban ED … Southgate J (The American journal of pathology 1998) 3 4 22 58
  2. 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 (Japanese journal of cancer research : Gann 1998) 2 3 4 58
  3. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. (PMID: 19959718) Cordell HJ … UK VUR Study Group (Journal of the American Society of Nephrology : JASN 2010) 3 44 58
  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 58
  5. Up-regulation of urinary UPIII mRNA levels in vesicoureteral reflux patients: potential application as a screening test for vesicoureteral reflux. (PMID: 17880289) Iwaki H … Yoshiki T (International journal of urology : official journal of the Japanese Urological Association 2007) 3 22 58

Products for UPK3A Gene

Sources for UPK3A Gene

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