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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

USHBP1 Gene

protein-coding   GIFtS: 46
GCID: GC19M017360

Usher Syndrome 1C Binding Protein 1

  See 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)
About This Section

Aliases
Usher Syndrome 1C Binding Protein 11 2     AIE-75-Binding Protein2 3
MCC22 3 5     USH1C-Binding Protein 12 3
Mutated In Colon Cancer Protein 22 3     AIE-75 Binding Protein Protein2
AIEBP2 3     Usher Syndrome Type-1C Protein-Binding Protein 12
MCC-22 3     

External Ids:    HGNC: 240581   Entrez Gene: 838782   Ensembl: ENSG000001303077   OMIM: 6118105   UniProtKB: Q8N6Y03   

Export aliases for USHBP1 gene to outside databases

Previous GC identifers: GC19M017222 GC19M017223 GC19M016927


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for USHBP1 Gene: 
USHBP1 (Usher syndrome 1C binding protein 1) is a protein-coding gene. Diseases associated with USHBP1 include usher syndrome, type 1c, and usher syndrome. GO annotations related to this gene include PDZ domain binding and protein binding. An important paralog of this gene is MCC.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USHBP1 gene promoter:
         Pax-2   MyoD   Pax-2a   NF-E2 p45   YY1   C/EBPalpha   CREB   deltaCREB   SEF-1 (1)   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSHBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for USHBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USHBP1


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

Entrez Gene cytogenetic band: 19p13   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

USHBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USHBP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M017360:  view genomic region     (about GC identifiers)

Start:
17,359,985 bp from pter      End:
17,393,595 bp from pter
Size:
33,611 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: USBP1_HUMAN, Q8N6Y0 (See protein sequence)
Recommended Name: Usher syndrome type-1C protein-binding protein 1  
Size: 703 amino acids; 76068 Da
Subunit: Interacts via its C-terminus with the first PDZ domain of USH1C
Sequence caution: Sequence=BAC11443.1; Type=Erroneous initiation;
Secondary accessions: Q8NBX7 Q96KH3 Q9BYI8
Alternative splicing: 2 isoforms:  Q8N6Y0-1   Q8N6Y0-2   (Due to the retention of an intron in the cDNA leading to a prematurate stop codon)

Explore the universe of human proteins at neXtProt for USHBP1: NX_Q8N6Y0

Explore proteomics data for USHBP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N6Y0

  • USHBP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    USHBP1 Protein Expression
    REFSEQ proteins: NP_114147.2  
    ENSEMBL proteins: 
     ENSP00000252597   ENSP00000407902   ENSP00000469562   ENSP00000324174   ENSP00000473108  
     ENSP00000471680  

    Human Recombinant Protein Products for USHBP1: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019536 USH1C-bd_PDZ_domain

    Graphical View of Domain Structure for InterPro Entry Q8N6Y0

    ProtoNet protein and cluster: Q8N6Y0

    UniProtKB/Swiss-Prot: USBP1_HUMAN, Q8N6Y0
    Similarity: Belongs to the MCC family


    USHBP1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0030165PDZ domain binding IPI11311560
         
    USHBP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for USHBP1:
     Decreased homologous recombina 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USHBP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USHBP1 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate USHBP1:
    hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidUSHBP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USHBP1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for USHBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/55 Interacting proteins for USHBP1 (Q8N6Y01, 2, 3 ENSP000002525974) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC8Q8IYI61, 3, ENSP000003535644EBI-739895,EBI-742102 I2D: score=3 STRING: ENSP00000353564
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2876995 I2D: score=3 STRING: ENSP00000344782
    USH1CQ9Y6N92, 3, ENSP000000052264MINT-58189 I2D: score=2 STRING: ENSP00000005226
    SERTAD3Q9UJW91, 3, ENSP000003254144EBI-739895,EBI-748621 I2D: score=4 STRING: ENSP00000325414
    BET1O151551, 3, ENSP000002225474EBI-739895,EBI-749204 I2D: score=4 STRING: ENSP00000222547
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for USHBP1 (USBP1)

    Search CenterWatch for drugs/clinical trials and news about USHBP1 / USBP1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for USHBP1 gene: 
    NM_031941.3  

    Unigene Cluster for USHBP1:

    Usher syndrome 1C binding protein 1
    Hs.512773  [show with all ESTs]
    Unigene Representative Sequence: BC027910
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252597(uc002nfr.1 uc002nfs.1 uc002nft.1 uc010xpk.1)
    ENST00000431146 ENST00000597928 ENST00000324554(uc010eam.1) ENST00000598570
    ENST00000595993 ENST00000594190 ENST00000596436 ENST00000600286 ENST00000598309

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USHBP1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate USHBP1:
    hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidUSHBP1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USHBP1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat USHBP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USHBP1

    Additional mRNA sequence: 

    AB026290.1 AK075162.1 AK096028.1 AK292031.1 AK300617.1 AK315239.1 BC027910.1 

    12 DOTS entries:

    DT.109686  DT.121502699  DT.100019656  DT.95320335  DT.100019657  DT.121502636  DT.121502653  DT.121502682 
    DT.121502718  DT.121502731  DT.121502737  DT.121502634 

    24/32 AceView cDNA sequences (see all 32):

    BI767400 T32989 AI818379 BX356125 Z40754 CR599813 AI439103 NM_031941 
    AA349514 BX390279 BX356124 BM923646 AB026290 AB040046 AA369348 BC027910 
    BP381444 AK096028 BQ884080 AI864011 AA551913 H80804 Z45023 H80805 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for USHBP1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                    -                 -     -     -                                                                                       
    SP2:                    -                 -     -     -                                         -                                             
    SP3:                    -                 -     -                                                                                             
    SP4:                    -           -     -     -     -                                                                                       
    SP5:                    -                                                                                                                     


    ECgene alternative splicing isoforms for USHBP1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    USHBP1 expression in normal human tissues (normalized intensities)      USHBP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATAAACTG
    USHBP1 Expression
    About this image


    USHBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum

    See USHBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USHBP1

    SOURCE GeneReport for Unigene cluster: Hs.512773

    UniProtKB/Swiss-Prot: USBP1_HUMAN, Q8N6Y0
    Tissue specificity: Highest level of expression in heart, and moderate to low expression in skeletal muscle,
    kidney, liver, small intestine, placenta and lung

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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for USHBP1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ushbp11 , 5 Usher syndrome 1C binding protein 11, 5 70.96(n)1
    62.52(a)1
      8 (34.43 cM)5
    2343951  NM_181418.31  NP_852083.21 
     713842745 
    chicken
    (Gallus gallus)
    Aves LOC4270881 Usher syndrome type-1C protein-binding protein 1-like 49.65(n)
    36.36(a)
      427088  XM_424682.3  XP_424682.3 
    lizard
    (Anolis carolinensis)
    Reptilia USHBP16
    Uncharacterized protein
    31(a)
    1 ↔ 1
    GL343706.1(174463-176456)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001489351 Usher syndrome type-1C protein-binding protein 1-like 43.28(n)
    30.26(a)
      100148935  XM_001921157.2  XP_001921192.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG344046
    --
    15(a)
    1 → many
    3R(11189508-11193369)


    ENSEMBL Gene Tree for USHBP1 (if available)
    TreeFam Gene Tree for USHBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USHBP1 gene
    MCC2  
    1 SIMAP similar gene for USHBP1 using alignment to 5 protein entries:     USBP1_HUMAN (see all proteins):
    CNOT2

    USHBP1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/474 SNPs in USHBP1 are shown (see all 474)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407126561,2
    --17360429(+) AATATC/TTTTAT 1 -- ds50010--------
    rs1848470051,2
    --17360487(+) ATGGGC/GTTTTG 1 -- ds50010--------
    rs1419096941,2
    C--17360533(+) CAAGTA/GATCTA 1 -- ds50010--------
    rs1506336841,2
    --17360576(+) AGATGA/TGCACC 1 -- ds50010--------
    rs1171484991,2
    F--17360746(+) ACCCCC/TGAAAT 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs574154721,2
    C,F--17360782(+) ATAGCC/GCAGGT 1 -- ds50012Minor allele frequency- G:0.15WA 120
    rs37451671,2
    C,F,H--17360864(+) TTCTTT/CATTGC 1 -- ut3120Minor allele frequency- C:0.40NS EA NA WA CSA 2342
    rs37451681,2
    C,F,A--17360878(+) GCCACG/ACCCCA 1 -- ut31 ese37Minor allele frequency- A:0.42WA NA CSA EA 366
    rs770941631,2
    C,F--17360894(+) CCCTGG/AACACC 1 -- ut311Minor allele frequency- A:0.03EA 120
    rs1893636781,2
    --17360916(+) GCTTCC/TCTCAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for USHBP1 (17359985 - 17393595 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for USHBP1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3760n71CNV Loss21882294
    nsv911182CNV Loss21882294
    dgv3757n71CNV Loss21882294
    nsv911198CNV Loss21882294
    nsv911188CNV Loss21882294
    nsv911189CNV Loss21882294
    nsv911185CNV Loss21882294
    nsv470129CNV Loss18288195
    dgv3759n71CNV Loss21882294
    dgv3758n71CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing USHBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for USHBP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611810    OMIM disorders: --

    3 diseases for USHBP1:    About MalaCards
    usher syndrome, type 1c    usher syndrome    colon cancer


    USHBP1 for disorders           About GeneDecksing


    Export disorders for USHBP1 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)
    About This Section

    PubMed articles for USHBP1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with USHBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75. (PubMed id 11311560)1, 2, 3, 9 Ishikawa S.... Moriuchi T. (2001)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    5. An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
    6. Shifted Transversal Design smart-pooling for high cov erage interactome mapping. (PubMed id 19447967)1 Xin X....Thierry-Mieg N. (2009)
    7. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83878 HGNC: 24058 AceView: USHBP1 Ensembl:ENSG00000130307 euGenes: HUgn83878
    ECgene: USHBP1 H-InvDB: USHBP1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for USHBP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for USHBP1 gene:
    Search GeneIP for patents involving USHBP1

    GeneCards and IP:
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