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Aliases for UPK1A Gene

Aliases for UPK1A Gene

  • Uroplakin 1A 2 3 5
  • Tetraspanin-21 3 4
  • Uroplakin Ia 3 4
  • Tspan-21 3 4
  • TSPAN21 3 4
  • UP1A 3 4
  • UPIA 3 4
  • UPKA 3 4
  • Uroplakin-1a 3

External Ids for UPK1A Gene

Previous GeneCards Identifiers for UPK1A Gene

  • GC19P036796
  • GC19P036606
  • GC19P040833
  • GC19P040849
  • GC19P036157
  • GC19P032663
  • GC19P035704
  • GC19P035822
  • GC19P035845
  • GC19P036000
  • GC19P036167

Summaries for UPK1A Gene

Entrez Gene Summary for UPK1A Gene

  • The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for UPK1A Gene

UPK1A (Uroplakin 1A) is a Protein Coding gene. Diseases associated with UPK1A include Transitional Cell Carcinoma and Cystitis. GO annotations related to this gene include protein homodimerization activity and monosaccharide binding. An important paralog of this gene is UPK1B.

UniProtKB/Swiss-Prot for UPK1A Gene

  • Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity).

Gene Wiki entry for UPK1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UPK1A Gene

Genomics for UPK1A Gene

Regulatory Elements for UPK1A Gene

Enhancers for UPK1A 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
GH19G035710 2 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +48.7 48677 10.0 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 TBX21 ZFP41 ZFP82 ZNF529 U2AF1L4 TMEM147-AS1 LINC00665 ZNF461 ZNF567 COX6B1 ZNF792 ZNF529-AS1
GH19G035693 1.1 ENCODE 19.5 +27.4 27438 0.2 PKNOX1 WRNIP1 ARID4B SIN3A YBX1 ZNF2 SLC30A9 CBX5 ZNF207 ZNF143 TMEM147-AS1 ZNF567 HAUS5 ZNF792 RBM42 KMT2B LRFN3 ZNF529-AS1 UPK1A ZNF461
GH19G035743 1.2 ENCODE 14.3 +80.0 80047 5.9 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 ZNF610 GLIS1 U2AF1L4 TMEM147-AS1 ZNF567 HAUS5 ZNF461 ENSG00000267049 KMT2B UPK1A ZNF529-AS1 ENSG00000268947
GH19G035701 2 FANTOM5 Ensembl ENCODE dbSUPER 7.6 +36.1 36085 1.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF416 ZNF143 ZNF548 FOS ZNF567 TMEM147-AS1 U2AF1L4 HAUS5 ZNF792 KMT2B RBM42 COX6B1 ZNF146 LRFN3
GH19G035647 1.2 ENCODE 9.6 -18.0 -17967 1.9 CREB3L1 AGO1 DMAP1 FEZF1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 RBM42 KMT2B TMEM147-AS1 ZNF792 CTBP2P7 ENSG00000268947 ZNF565 ENSG00000267049 HAUS5 UPK1A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UPK1A on UCSC Golden Path with GeneCards custom track

Genomic Location for UPK1A Gene

Chromosome:
19
Start:
35,666,516 bp from pter
End:
35,678,485 bp from pter
Size:
11,970 bases
Orientation:
Plus strand

Genomic View for UPK1A Gene

Genes around UPK1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPK1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPK1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPK1A Gene

Proteins for UPK1A Gene

  • Protein details for UPK1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00322-UPK1A_HUMAN
    Recommended name:
    Uroplakin-1a
    Protein Accession:
    O00322
    Secondary Accessions:
    • Q3KNU5
    • Q3KNU6

    Protein attributes for UPK1A Gene

    Size:
    258 amino acids
    Molecular mass:
    28879 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2) (By similarity).

    Alternative splice isoforms for UPK1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UPK1A Gene

Post-translational modifications for UPK1A Gene

Other Protein References for UPK1A Gene

No data available for DME Specific Peptides for UPK1A Gene

Domains & Families for UPK1A Gene

Gene Families for UPK1A Gene

Suggested Antigen Peptide Sequences for UPK1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00322

UniProtKB/Swiss-Prot:

UPK1A_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with UPK1A: view

Function for UPK1A Gene

Molecular function for UPK1A Gene

GENATLAS Biochemistry:
uroplakin 1A,urothelium specific transmembrane protein forming 12nm protein particles in association with other UPKs,at the asymetric unit membrane of the bladder epithelium,strenghthening and stabilizing the urothelial epithelial surface trough its interactions with the underlying cytoskeleton,continuously expressed by the majority of transitional cell carcinoma of the bladder (TCC), in a region of partial synteny to chromosome 11
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 normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity).

Gene Ontology (GO) - Molecular Function for UPK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity ISS --
GO:0048029 monosaccharide binding ISS --
genes like me logo Genes that share ontologies with UPK1A: view
genes like me logo Genes that share phenotypes with UPK1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UPK1A Gene

Localization for UPK1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for UPK1A Gene

Membrane; Multi-pass membrane protein.

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 UPK1A gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
lysosome 1

Gene Ontology (GO) - Cellular Components for UPK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005886 plasma membrane TAS 15088894
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane ISS --
genes like me logo Genes that share ontologies with UPK1A: view

Pathways & Interactions for UPK1A Gene

SuperPathways for UPK1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for UPK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0030855 epithelial cell differentiation IDA 10514386
GO:0051259 protein oligomerization ISS --
genes like me logo Genes that share ontologies with UPK1A: view

No data available for Pathways by source and SIGNOR curated interactions for UPK1A Gene

Drugs & Compounds for UPK1A Gene

(1) Additional Compounds for UPK1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UPK1A: view

Transcripts for UPK1A Gene

mRNA/cDNA for UPK1A Gene

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

Unigene Clusters for UPK1A Gene

Uroplakin 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UPK1A Gene

No ASD Table

Relevant External Links for UPK1A Gene

GeneLoc Exon Structure for
UPK1A
ECgene alternative splicing isoforms for
UPK1A

Expression for UPK1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UPK1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UPK1A Gene

This gene is overexpressed in Bladder (x35.6) and Vagina (x5.5).

Protein differential expression in normal tissues from HIPED for UPK1A Gene

This gene is overexpressed in Liver (35.5), Urine (19.9), and Urinary Bladder (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UPK1A Gene



Protein tissue co-expression partners for UPK1A Gene

NURSA nuclear receptor signaling pathways regulating expression of UPK1A Gene:

UPK1A

SOURCE GeneReport for Unigene cluster for UPK1A Gene:

Hs.159309

mRNA Expression by UniProt/SwissProt for UPK1A Gene:

O00322-UPK1A_HUMAN
Tissue specificity: High expression restricted to ureteric urothelium (most superficial cells); low expression in prostate. Expression in normal urothelial cells is lost in culture. Some expression in tumor cell lines derived from urothelial malignancies.
genes like me logo Genes that share expression patterns with UPK1A: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for UPK1A Gene

Orthologs for UPK1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for UPK1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UPK1A 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UPK1A 34 35
  • 89.84 (n)
cow
(Bos Taurus)
Mammalia UPK1A 34 35
  • 89.28 (n)
rat
(Rattus norvegicus)
Mammalia Upk1a 34
  • 88.73 (n)
mouse
(Mus musculus)
Mammalia Upk1a 34 16 35
  • 88.31 (n)
oppossum
(Monodelphis domestica)
Mammalia UPK1A 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UPK1A 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UPK1A 35
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8143 34
zebrafish
(Danio rerio)
Actinopterygii upk1a 34 35
  • 54.13 (n)
Species where no ortholog for UPK1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UPK1A Gene

ENSEMBL:
Gene Tree for UPK1A (if available)
TreeFam:
Gene Tree for UPK1A (if available)

Paralogs for UPK1A Gene

Paralogs for UPK1A Gene

(1) SIMAP similar genes for UPK1A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UPK1A: view

Variants for UPK1A Gene

Sequence variations from dbSNP and Humsavar for UPK1A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000093320 -- 35,669,797(+) GTGAC(C/T)AGGAG intron-variant
rs1000579510 -- 35,675,570(+) GACAC(C/T)GTGCC intron-variant
rs1001045741 -- 35,669,281(+) CTCTT(C/G)AGGCT intron-variant
rs1001322872 -- 35,669,163(+) GTCAT(C/T)ATCAT intron-variant
rs1001456717 -- 35,668,317(+) TGCTC(A/C/G)TGGAA intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for UPK1A Gene

Variant ID Type Subtype PubMed ID
dgv659e214 CNV loss 21293372
esv2666558 CNV deletion 23128226
esv3644241 CNV gain 21293372
nsv1114002 CNV deletion 24896259
nsv1118827 CNV deletion 24896259
nsv526166 CNV loss 19592680
nsv579422 CNV loss 21841781
nsv817832 CNV loss 17921354

Variation tolerance for UPK1A Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.46; 82.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UPK1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPK1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UPK1A Gene

Disorders for UPK1A Gene

MalaCards: The human disease database

(3) MalaCards diseases for UPK1A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
transitional cell carcinoma
  • transitional carcinoma
cystitis
  • infective cystitis
bladder disease
  • urinary bladder disease
- elite association - COSMIC cancer census association via MalaCards
Search UPK1A in MalaCards View complete list of genes associated with diseases

Relevant External Links for UPK1A

Genetic Association Database (GAD)
UPK1A
Human Genome Epidemiology (HuGE) Navigator
UPK1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UPK1A
genes like me logo Genes that share disorders with UPK1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UPK1A Gene

Publications for UPK1A Gene

  1. Transcriptional control of the human urothelial-specific gene, uroplakin Ia. (PMID: 15913809) Hall G.D. … Chester J.D. (Biochim. Biophys. Acta 2005) 3 4 22 64
  2. Expression of transitional cell-specific genes, uroplakin Ia and II, in bladder cancer: detection of circulating cancer cells in the peripheral blood of metastatic patients. (PMID: 10404304) Yuasa T. … Okada Y. (Int. J. Urol. 1999) 2 3 22 64
  3. Uroplakin gene expression by normal and neoplastic human urothelium. (PMID: 9846985) Lobban E.D. … Southgate J. (Am. J. Pathol. 1998) 2 3 4 64
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
  5. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. (PMID: 15200408) Jiang S. … Sun T.T. (Kidney Int. 2004) 3 46 64

Products for UPK1A Gene

Sources for UPK1A Gene

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