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USH1C Gene

protein-coding   GIFtS: 62
GCID: GC11M017515

Usher Syndrome 1C (Autosomal Recessive, Severe)

(Previous names: deafness, autosomal recessive 18)
(Previous symbol: DFNB18)
  See USH1C-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
Usher Syndrome 1C (Autosomal Recessive, Severe)1 2     NY-CO-372
DFNB181 2     NY-CO-382
harmonin1 2     PDZ-452
Antigen NY-CO-38/NY-CO-372 3     PDZ-732
Autoimmune Enteropathy-Related Antigen AIE-752 3     PDZ-73/NY-CO-382
Renal Carcinoma Antigen NY-REN-32 3     PDZ732
Usher Syndrome Type-1C Protein2 3     PDZD7C2
DFNB18A2 5     ush1cpst2
Deafness, Autosomal Recessive 181     AIE753
AIE-752     Protein PDZ-733

External Ids:    HGNC: 125971   Entrez Gene: 100832   Ensembl: ENSG000000066117   OMIM: 6052425   UniProtKB: Q9Y6N93   

Export aliases for USH1C gene to outside databases

Previous GC identifers: GC11U990138 GC11M018457 GC11M017554 GC11M017479 GC11M017457 GC11M017199


(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 USH1C Gene:
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein
contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation
sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness
autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for USH1C Gene:
USH1C (Usher syndrome 1C (autosomal recessive, severe)) is a protein-coding gene. Diseases associated with USH1C include usher syndrome, type 1c, and deafness, autosomal recessive 18a. An important paralog of this gene is PDZD7.

UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9
Function: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding
protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates
mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity)

Gene Wiki entry for USH1C 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_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the USH1C gene promoter:
         SRF   E2F-4   E2F-3a   E2F-5   SRF (504 AA)   E2F-2   Roaz   E2F   E2F-1   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSH1C promoter sequence
   Search Chromatin IP Primers for USH1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USH1C


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

Entrez Gene cytogenetic band: 11p14.3   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p14.3

USH1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USH1C gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M017515:  view genomic region     (about GC identifiers)

Start:
17,515,442 bp from pter      End:
17,565,963 bp from pter
Size:
50,522 bases      Orientation:
minus 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: USH1C_HUMAN, Q9Y6N9 (See protein sequence)
Recommended Name: Harmonin  
Size: 552 amino acids; 62211 Da
Subunit: Interacts with F-actin. Interacts with HARP (By similarity). Interacts with USH1G/SANS, USH2A and SLC4A7.
Interacts (via the first PDZ domain) with the C-terminus of USHBP1. Interacts (via N-terminus and second PDZ
domain) with CDH23. Part of a complex composed of USH1C, USH1G and MYO7A
Sequence caution: Sequence=AAC18049.1; Type=Frameshift; Positions=552;
6 PDB 3D structures from and Proteopedia for USH1C:
1X5N (3D)        2KBQ (3D)        2KBR (3D)        2KBS (3D)        2LSR (3D)        3K1R (3D)    
Secondary accessions: A8K423 Q7RTU8 Q96B29 Q9UM04 Q9UM17 Q9UPC3
Alternative splicing: 5 isoforms:  Q9Y6N9-1   Q9Y6N9-2   Q9Y6N9-3   Q9Y6N9-4   Q9Y6N9-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USH1C: NX_Q9Y6N9

Explore proteomics data for USH1C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See USH1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005700.2  NP_710142.1  

    ENSEMBL proteins: 
     ENSP00000432236   ENSP00000317018   ENSP00000432944   ENSP00000436934   ENSP00000005226  
     ENSP00000437128  

    USH1C Human Recombinant Protein Products:

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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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    1 InterPro protein domain:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q9Y6N9

    ProtoNet protein and cluster: Q9Y6N9

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9
    Domain: The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7
    Domain: The N-terminal region constitutes an independently folded domain that has structural similarity with the
    CCM2 C-terminus, despite very low sequence similarity
    Similarity: Contains 3 PDZ (DHR) domains


    Find genes that share domains with USH1C           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: USH1C_HUMAN, Q9Y6N9
    Function: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding
    protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates
    mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11311560
         
    Find genes that share ontologies with USH1C           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for USH1C:
     Small cells 

         9 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Ush1c):
     adipose tissue  behavior/neurological  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     integument  nervous system  reproductive system  vision/eye 

    Find genes that share phenotypes with USH1C           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for USH1C: Ush1ctm1Xzl Ush1ctm1.1Ugds

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USH1C
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USH1C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USH1C

    miRNA
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    miRTarBase miRNAs that target USH1C:
    hsa-mir-335-5p (MIRT016712)

    Block miRNA regulation of human, mouse, rat USH1C using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate USH1C:
    hsa-miR-124* hsa-miR-30c-2* hsa-miR-30c-1* hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidUSH1C 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for USH1C
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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
    USH1C_HUMAN, Q9Y6N9: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity).
    Detected at the tip of cochlear hair cell stereocilia
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    nucleus2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0001917photoreceptor inner segment IEA--
    GO:0005737cytoplasm IDA10209257
    GO:0005829cytosol IEA--
    GO:0005856cytoskeleton IEA--

    Find genes that share ontologies with USH1C           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 USH1C
    Interactions:

        GeneGlobe Interaction Network for USH1C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for USH1C (Q9Y6N92, 3 ENSP000000052264) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USH1GQ495M92, 3, ENSP000003200764MINT-58187 I2D: score=1 STRING: ENSP00000320076
    USHBP1Q8N6Y02, 3, ENSP000002525974MINT-58189 I2D: score=2 STRING: ENSP00000252597
    MYO7AQ134023, ENSP000003863314I2D: score=3 STRING: ENSP00000386331
    CDH23Q9H2513, ENSP000003818224I2D: score=4 STRING: ENSP00000381822
    PCDH15Q96QU13, ENSP000003549504I2D: score=1 STRING: ENSP00000354950
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle IMP15219944
    GO:0007605sensory perception of sound IMP11398101
    GO:0030046parallel actin filament bundle assembly IEA--
    GO:0042472inner ear morphogenesis IEA--
    GO:0042491auditory receptor cell differentiation IEA--

    Find genes that share ontologies with USH1C           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for USH1C



    (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 USH1C gene (2 alternative transcripts): 
    NM_005709.3  NM_153676.3  

    Unigene Cluster for USH1C:

    Usher syndrome 1C (autosomal recessive, severe)
    Hs.502072  [show with all ESTs]
    Unigene Representative Sequence: NM_153676
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526313 ENST00000318024(uc001mnf.3 uc009yhb.3 uc001mng.3)
    ENST00000527720(uc001mnd.3) ENST00000527020 ENST00000529563 ENST00000527551
    ENST00000005226(uc001mne.3) ENST00000534556 ENST00000530700 ENST00000526181

    miRNA
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    Block miRNA regulation of human, mouse, rat USH1C using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate USH1C:
    hsa-miR-124* hsa-miR-30c-2* hsa-miR-30c-1* hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidUSH1C 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat USH1C

    Additional mRNA sequence: 

    AB006955.1 AB018687.1 AF039699.1 AF039700.1 AK225614.1 AK290788.1 AK300936.1 BC016057.1 
    BX641129.1 

    10 DOTS entries:

    DT.92421253  DT.410422  DT.102827984  DT.92421252  DT.91908320  DT.100749958  DT.101969890  DT.95176053 
    DT.100744666  DT.86857669 

    Selected AceView cDNA sequences (see all 96):

    AU106345 BQ215821 BI759447 BG984863 BQ433907 BK000147 BI260775 NM_153676 
    CR623186 BX641129 AL045823 BU169544 BQ932716 AA327309 BX370544 AL711953 
    BX344632 AI269960 AL045824 AI984995 AF039700 AF039699 AB018687 AL556078 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USH1C (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
    SP1:        -     -                                                                                         -                                                   
    SP2:                                                                                                        -                                                   
    SP3:        -     -                                                                                   -     -                                                   
    SP4:        -     -                                                           -                             -                                                   
    SP5:              -                                                                                                                                             


    ECgene alternative splicing isoforms for USH1C

    (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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    USH1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAATCAACG
    USH1C Expression
    About this image


    USH1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    USH1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USH1C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502072

    UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9
    Tissue specificity: Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in
    vestibule of the inner ear

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USH1C

    (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 animals.

    Orthologs for USH1C gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ush1c1 , 5 Usher syndrome 1C homolog (human)5
    Usher syndrome 1C1
    88.36(n)1
    92.86(a)1
      7 (29.66 cM)5
    720881  NM_153677.21  NP_710143.21 
     461953505 
    chicken
    (Gallus gallus)
    Aves USH1C1 Usher syndrome 1C (autosomal recessive, severe) 68.91(n)
    72.65(a)
      423073  XM_421006.4  XP_421006.4 
    lizard
    (Anolis carolinensis)
    Reptilia USH1C6
    Usher syndrome 1C (autosomal recessive, severe)
    64(a)
    1 ↔ 1
    1(66890849-66949839)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.6492 Transcribed sequence with moderate similarity to protein more 74.02(n)    AL900975.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ush1c1 Usher syndrome 1C (autosomal recessive, severe) 68.32(n)
    70.69(a)
      564412  NM_001039929.1  NP_001035018.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59216
    --
    15(a)
    1 ↔ 1
    X(5945035-5958719)


    ENSEMBL Gene Tree for USH1C (if available)
    TreeFam Gene Tree for USH1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USH1C gene
    PDZD72  DFNB312  
    2 SIMAP similar genes for USH1C using alignment to 2 protein entries:     USH1C_HUMAN (see all proteins):
    DLG4    PDLIM7

    Find genes that share paralogs with USH1C           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 USH1C (see all 1318)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs108327951,2
    C,F,A,Hnon-pathogenic117441386(+) TATACA/GGAGCA 2 -- int129Minor allele frequency- G:0.34NA NS EA WA CSA 2903
    rs20722321,2
    C,F,Hnon-pathogenic117443846(+) AGGGGC/GCTTAT 2 -- int110Minor allele frequency- G:0.35EA NS NA CSA WA 2242
    rs10640741,2,,4
    C,F,A,Hnon-pathogenic117443891(-) GCTGAC/GGCTGC 4 D E mis1 ese327Minor allele frequency- N:0.00MN EA NA NS WA EU 7553
    rs108327961,2
    C,F,A,Hnon-pathogenic117446787(+) GAAACG/AACCAC 4 /V syn1 ese321Minor allele frequency- A:0.22NA NS EA EU 8009
    rs177035281,2
    C,F,Hnon-pathogenic117447623(+) GAAGCG/ATCATC 2 -- int123Minor allele frequency- A:0.06NA NS EA WA CSA EU 3680
    rs801244091,2
    C,Fnon-pathogenic117455193(-) CCCTCA/C/G/
            
    GCGCT
    3 S int1 syn12WA NA 4670
    rs177767751,2
    C,Fnon-pathogenic117455295(+) GATGAA/C/G/
            
    GCGCT
    3 A int1 syn14NA 262
    rs22404871,2
    C,F,Hnon-pathogenic117466587(+) GGTACA/C/G/
            
    GGGTG
    4 P syn130NA EA NS CSA WA EU 8435
    rs110243181,2
    C,F,Hnon-pathogenic117466701(+) TGAGAC/TCCCCA 2 -- int123Minor allele frequency- T:0.10NA NS EA WA CSA EU 3684
    rs22404881,2
    C,F,O,Hnon-pathogenic117467020(+) GACACG/CCGTGG 2 -- int131Minor allele frequency- C:0.50EA NA NS CSA WA EU 4829

    HapMap Linkage Disequilibrium report for USH1C (17515442 - 17565963 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for USH1C:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7694CNV Insertion18451855
    nsv467714CNV Loss19166990
    nsv7693CNV Loss18451855
    esv33415CNV Loss17666407
    nsv469895CNV Loss16826518

    Human Gene Mutation Database (HGMD): USH1C
    Locus Specific Mutation Databases (LSDB): USH1C

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USH1C
    DNA2.0 Custom Variant and Variant Library Synthesis for USH1C

    (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: 605242   
    OMIM disorders: 276904  602092  
    UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9
  • Usher syndrome 1C (USH1C) [MIM:276904]: USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function
    and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Deafness, autosomal recessive, 18A (DFNB18A) [MIM:602092]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 11 diseases for USH1C:    
    About MalaCards
    usher syndrome, type 1c    deafness, autosomal recessive 18a    autoimmune enteropathy    dfnb18 nonsyndromic hearing loss and deafness
    nonsyndromic hearing loss and deafness, autosomal recessive    usher syndrome    usher syndrome type 1g    usher syndrome, type 1d
    usher syndrome, type 1f    usher syndrome type i    deafness, autosomal recessive 76

    4 diseases from the University of Copenhagen DISEASES database for USH1C:
    Usher syndrome     Retinitis pigmentosa     Nonsyndromic deafness     Sensorineural hearing loss

    Find genes that share disorders with USH1C           About GenesLikeMe

    3 Novoseek inferred disease relationships for USH1C gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dfnb18 97.2 9 14519688 (2), 19028668 (1), 10973247 (1), 12702164 (1)
    usher syndrome 97.1 21 12702164 (2), 14519688 (2), 15645695 (1), 16301216 (1) (see all 13)
    retinal degeneration 66.9 2 20095043 (2)

    GeneTests: USH1C
    GeneReviews: USH1C
    Genetic Association Database (GAD): USH1C
    Human Genome Epidemiology (HuGE) Navigator: USH1C (5 documents)

    Export disorders for USH1C 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 USH1C gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with USH1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. (PubMed id 10973247)1, 2, 3, 9 Verpy E....Petit C. (Nat. Genet. 2000)
    2. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (PubMed id 12107438)1, 2, 3 Ahmed Z.M.... Wilcox E.R. (Hum. Genet. 2002)
    3. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. (PubMed id 20142502)1, 2, 9 Yan J.... Zhang M. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    4. Identification of an autoimmune enteropathy-related 75-kilodalton antigen. (PubMed id 10500064)1, 2, 9 Kobayashi I....Kobayashi K. (Gastroenterology 1999)
    5. Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. (PubMed id 19297620)1, 2, 9 Pan L.... Zhang M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    6. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. (PubMed id 16301216)1, 2, 9 Reiners J....Wolfrum U. (Hum. Mol. Genet. 2005)
    7. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PubMed id 15660226)1, 4, 9 Ouyang X.M.... Liu X.Z. (Hum. Genet. 2005)
    8. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    9. Novel mutations in the USH1C gene in Usher syndrome patients. (PubMed id 21203349)1, 4 Aparisi M.J....MillA!n J.M. (Mol. Vis. 2010)
    10. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (PubMed id 19683999)1, 4 Jaijo T....MillA!n J.M. (amp 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10083 HGNC: 12597 AceView: USH1C Ensembl:ENSG00000006611 euGenes: HUgn10083
    ECgene: USH1C H-InvDB: USH1C

    (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 USH1C Pharmacogenomics, SNPs, Pathways
    Mutations of the USH1C genehttp://www.retina-international.org/files/sci-news/ush1cmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=USH1C[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for USH1C gene:
    Search GeneIP for patents involving USH1C

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



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