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UPK1A Gene

protein-coding   GIFtS: 54
GCID: GC19P036157

Uroplakin 1A

  See UPK1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Uroplakin 1A1 2     tspan-212
Uroplakin Ia2 3     uroplakin-1a2
TSPAN212 3     Tetraspanin-213
UPIA2 5     Tspan-213
UP1A2     UP1a3
UPKA2     UPIa3
tetraspanin-212     UPKa3

External Ids:    HGNC: 125771   Entrez Gene: 110452   Ensembl: ENSG000001056687   OMIM: 6115575   UniProtKB: O003223   

Export aliases for UPK1A gene to outside databases

Previous GC identifers: GC19P036796 GC19P036606 GC19P040833 GC19P040849 GC19P032663


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ovarian brenner tumor, and transitional cell carcinoma. GO annotations related to this gene include protein homodimerization activity and monosaccharide binding. An important paralog of this gene is UPK1B.

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322
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 Wiki entry for UPK1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the UPK1A gene promoter:
         USF1   Elk-1   AML1a   Tal-1beta   c-Ets-1   YY1   USF-1   ARP-1   ITF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPK1A promoter sequence
   Search Chromatin IP Primers for UPK1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UPK1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.13   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.1

UPK1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPK1A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036157:  view genomic region     (about GC identifiers)

Start:
36,157,715 bp from pter      End:
36,169,367 bp from pter
Size:
11,653 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322 (See protein sequence)
Recommended Name: Uroplakin-1a  
Size: 258 amino acids; 28879 Da
Subunit: Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2) (By similarity)
Secondary accessions: Q3KNU5 Q3KNU6
Alternative splicing: 2 isoforms:  O00322-1   O00322-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UPK1A: NX_O00322

Explore proteomics data for UPK1A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn170

  • See UPK1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001268372.1  NP_008931.1  

    ENSEMBL proteins: 
     ENSP00000368298   ENSP00000222275  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TSPAN: Tetraspanins

    3 InterPro protein domains:
     IPR018499 Tetraspanin/Peripherin
     IPR000301 Tetraspanin
     IPR008952 Tetraspanin_EC2

    Graphical View of Domain Structure for InterPro Entry O00322

    ProtoNet protein and cluster: O00322

    1 Blocks protein domain: IPB000301 Transmembrane four family signature

    UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322
    Similarity: Belongs to the tetraspanin (TM4SF) family


    Find genes that share domains with UPK1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UPK1A_HUMAN, O00322
    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)

         Genatlas biochemistry entry for UPK1A:
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity ISS--
    GO:0048029monosaccharide binding ISS--
         
    Find genes that share ontologies with UPK1A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for UPK1A:
     Increased G1 DNA content  Increased cell size  Increased gamma-H2AX phosphory 

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UPK1A_HUMAN, O00322: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    plasma membrane4
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0005886plasma membrane TAS15088894
    GO:0016021integral component of membrane ISS--
    GO:0016324apical plasma membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with UPK1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UPK1A
    Interactions:

        Search GeneGlobe Interaction Network for UPK1A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for UPK1A (O003223 ENSP000002222754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPK2O005263, ENSP000002640314I2D: score=2 STRING: ENSP00000264031
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030855epithelial cell differentiation IDA10514386
    GO:0051259protein oligomerization ISS--

    Find genes that share ontologies with UPK1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for UPK1A

    1 Novoseek inferred chemical compound relationship for UPK1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 57.2 3 16567801 (2)



    Find genes that share compounds with UPK1A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UPK1A gene (2 alternative transcripts): 
    NM_001281443.1  NM_007000.3  

    Unigene Cluster for UPK1A:

    Uroplakin 1A
    Hs.159309  [show with all ESTs]
    Unigene Representative Sequence: NM_007000
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379013(uc010eeh.3) ENST00000222275(uc002oaw.3)
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    Additional mRNA sequence: 

    AF085807.1 BC107097.1 BC107098.1 

    2 DOTS entries:

    DT.40233466  DT.121498486 

    6 AceView cDNA sequences:

    AI633692 AI784039 AF085807 AW629730 NM_007000 AA548647 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UPK1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGGCATCG
    UPK1A Expression
    About this image


    UPK1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Cerebellum
    UPK1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UPK1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159309

    UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for UPK1A gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Upk1a1 , 5 uroplakin 1A1, 5 88.31(n)1
    94.76(a)1
      7 (18.78 cM)5
    1096371  NM_026815.21  NP_081091.11 
     306030925 
    lizard
    (Anolis carolinensis)
    Reptilia UPK1A6
    uroplakin 1A
    67(a)
    1 ↔ 1
    GL343276.1(1343553-1370703)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81432 Xenopus laevis transcribed sequence with weak similarity more 77.38(n)    BX851388.1 
    zebrafish
    (Danio rerio)
    Actinopterygii upk1a1 uroplakin 1a 54.13(n)
    47.44(a)
      678515  NM_001040242.1  NP_001035332.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UPK1A gene
    UPK1B2  
    1 SIMAP similar gene for UPK1A using alignment to 1 protein entry:     UPK1A_HUMAN:
    UPK1B

    Find genes that share paralogs with UPK1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UPK1A (see all 233)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129748311,2
    H--36155732(+) cgaggT/Gtcaag 1 -- us2k14Minor allele frequency- G:0.00NS EA 420
    rs1909530271,2
    --36155794(+) CACCAC/TGACTG 1 -- us2k10--------
    rs1487802121,2
    --36155844(+) GTTAGG/TCAGCC 1 -- us2k10--------
    rs1834050091,2
    --36155869(+) CCCCCC/GACCCT 1 -- us2k10--------
    rs1889619501,2
    --36155968(+) CAAATG/TAACCA 1 -- us2k10--------
    rs1925079321,2
    --36155997(+) TCATGC/TATCTT 1 -- us2k10--------
    rs1157911901,2
    C,F--36156119(+) TTGGGG/ATTGAG 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs1826495961,2
    C--36156130(+) AAGTTC/GTGGGG 1 -- us2k10--------
    rs1424467201,2
    --36156135(+) CTGGGG/TACGGT 1 -- us2k10--------
    rs1513195171,2
    --36156194(+) CGAGGA/GCGTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UPK1A (36157715 - 36169367 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for UPK1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666558CNV Deletion23128226
    nsv526166CNV Loss19592680
    dgv3852n71CNV Loss21882294
    nsv817832CNV Loss17921354

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611557    OMIM disorders: --

    2 diseases for UPK1A:    
    About MalaCards
    ovarian brenner tumor    transitional cell carcinoma

    2 diseases from the University of Copenhagen DISEASES database for UPK1A:
    Vesicoureteral reflux     Cystitis

    Find genes that share disorders with UPK1A           About GenesLikeMe

    3 Novoseek inferred disease relationships for UPK1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma transitional cell 52.3 1 12474225 (1)
    bladder cancer 29.8 1 10404304 (1)
    metastasis 0 1 12474225 (1)

    Genetic Association Database (GAD): UPK1A
    Human Genome Epidemiology (HuGE) Navigator: UPK1A (1 document)

    Export disorders for UPK1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UPK1A gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with UPK1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Uroplakin gene expression by normal and neoplastic human urothelium. (PubMed id 9846985)1, 2, 3 Lobban E.D.... Southgate J. (Am. J. Pathol. 1998)
    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. (PubMed id 10404304)1, 3, 9 Yuasa T....Okada Y. (Int. J. Urol. 1999)
    3. Transcriptional control of the human urothelial-specific gene, uroplakin Ia. (PubMed id 15913809)1, 2, 9 Hall G.D.... Chester J.D. (Biochim. Biophys. Acta 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. (PubMed id 15200408)1, 4 Jiang S....Sun T.T. (Kidney Int. 2004)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    7. Selective interactions of UPIa and UPIb, two members of the transmembrane 4 superfamily, with distinct single transmembrane-domained proteins in differentiated urothelial cells. (PubMed id 8530366)1, 9 Wu X.R....Sun T.T. (J. Biol. Chem. 1995)
    8. Characterization of a candidate tumor suppressor gene uroplakin 1A in esophageal squamous cell carcinoma. (PubMed id 20978196)1 Kong K.L....Guan X.Y. (Cancer Res. 2010)
    9. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    10. Uropathogenic E. coli adhesin-induced host cell receptor conformational changes: implications in transmembrane signaling transduction. (PubMed id 19577575)1 Wang H....Kong X.P. (J. Mol. Biol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11045 HGNC: 12577 AceView: UPK1A Ensembl:ENSG00000105668 euGenes: HUgn11045
    ECgene: UPK1A H-InvDB: UPK1A

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UPK1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UPK1A gene:
    Search GeneIP for patents involving UPK1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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