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Aliases for UPK3A Gene

Aliases for UPK3A Gene

  • Uroplakin 3A 2 3
  • Uroplakin III 3 4
  • Uroplakin 3 2 3
  • UPIII 3 4
  • UP3A 3 4
  • UPK3 3 4
  • 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 upk3a-related renal adysplasia and renal agenesis, unilateral. 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for UPK3A Gene at MOPED

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:

Antibody Products

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UPK3A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for UPK3A Gene COMPARTMENTS Subcellular localization image for UPK3A gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for UPK3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with UPK3A: view

Pathways & Interactions for UPK3A Gene

SuperPathways for UPK3A Gene

Superpath 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

Interacting Proteins for UPK3A Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000216211%0d%0a9606.ENSP00000264234%0d%0a9606.ENSP00000221566%0d%0a
Selected Interacting proteins: O75631-UPK3A_HUMAN ENSP00000216211 for UPK3A Gene via UniProtKB I2D STRING

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

Unigene Clusters for UPK3A Gene

Uroplakin 3A:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UPK3A

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 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 and MOPED for UPK3A Gene



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

Protein tissue co-expression partners for UPK3A Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia UPK3A 35
  • 86.06 (n)
  • 85.37 (a)
UPK3A 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UPK3A 35
  • 84.9 (n)
  • 85.37 (a)
UPK3A 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Upk3a 35
  • 84.04 (n)
  • 84.15 (a)
Upk3a 16
Upk3a 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UPK3A 35
  • 97.08 (n)
  • 95.32 (a)
UPK3A 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Upk3a 35
  • 83.45 (n)
  • 84.86 (a)
oppossum
(Monodelphis domestica)
Mammalia UPK3A 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPK3A 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPK3A 35
  • 56.4 (n)
  • 51.2 (a)
UPK3A 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UPK3A 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia upk3a 35
  • 51.4 (n)
  • 41.6 (a)
Species with no ortholog for UPK3A:
  • 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 MAF
rs1057353 - 45,287,423(+) GTAAC(C/G)CACCC intron-variant, missense, reference
rs1057356 -- 45,295,713(+) CTCCA(A/G)GACTG reference, synonymous-codon
rs1135360 -- 45,289,121(+) TGGTC(A/G)GACCC intron-variant, reference, synonymous-codon
rs1984691 -- 45,293,843(-) AGGTT(G/T)TGTCG intron-variant
rs2013661 -- 45,293,998(+) TGAAC(C/G)CACAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1411e1 CNV Complex 17122850
nsv829278 CNV Loss 20364138
nsv9921 CNV Gain+Loss 18304495
esv34218 CNV Gain 17911159
nsv508741 CNV Insertion 20534489

Variation tolerance for UPK3A Gene

Residual Variation Intolerance Score: 86.95% 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

HapMap Linkage Disequilibrium report
UPK3A
Human Gene Mutation Database (HGMD)
UPK3A

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

Disorders for UPK3A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
upk3a-related renal adysplasia
  • upk3a-related hereditary renal aplasia
renal agenesis, unilateral
cutaneous paget's disease
  • paget's disease of skin
malignant ovarian brenner tumor
  • brenner tumor, malignant
renal pelvis transitional cell carcinoma
  • urothelial cell carcinoma of renal pelvis
- elite association
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. Large cell undifferentiated carcinoma of the urinary bladder. (PMID: 20438410) Lopez-Beltran A. … Montironi R. (Pathology 2010) 23 67
  2. Pleomorphic giant cell carcinoma of the urinary bladder. (PMID: 19467692) Lopez-Beltran A. … Regueiro J.C. (Hum. Pathol. 2009) 23 67
  3. A rare malignant Brenner tumor of the ovary in a 77-year-old woman: a case report. (PMID: 19769199) Ballard K.S. … Tedjarati S.S. (J Reprod Med 2009) 23 67
  4. In vitro investigations of tissue-engineered multilayered urothelium established from bladder washings. (PMID: 18280635) Nagele U. … Stenzl A. (Eur. Urol. 2008) 23 67
  5. Immunoreactivity of p63 in monolayered and in vitro stratified human urothelial cell cultures compared with native urothelial tissue. (PMID: 17980954) Feil G. … Stenzl A. (Eur. Urol. 2008) 23 67

Products for UPK3A Gene

Sources for UPK3A Gene

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