USH1C Gene
protein-coding GIFtS: 61
GCID: GC11M017515
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|
Usher syndrome 1C (autosomal recessive, severe)(Previous names: deafness, autosomal recessive 18 )
(Previous symbol: DFNB18)
| |
Aliases
for USH1C gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Usher Syndrome 1C (Autosomal Recessive, Severe)1 2 | | Renal Carcinoma Antigen NY-REN-32 3 | | DFNB181 2 5 | | Usher Syndrome Type-1C Protein2 3 | | AIE-751 2 | | Deafness, Autosomal Recessive 181 | | NY-CO-371 2 | | DFNB18A2 | | NY-CO-381 2 | | PDZ-452 | | PDZ-731 2 | | PDZ-73/NY-CO-382 | | PDZ731 2 | | Ush1cpst1 | | Harmonin1 | | AIE753 | | Antigen NY-CO-38/NY-CO-372 3 | | Protein PDZ-733 | | Autoimmune Enteropathy-Related Antigen AIE-752 3 | | |
Export aliases for USH1C gene to outside databasesPrevious GC identifers: GC11U990138 GC11M018457 GC11M017554 GC11M017479 GC11M017457 GC11M017199 |
Summaries
for USH1C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for USH1C:
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein containsPDZ 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 autosomalrecessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. (providedby RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9Function: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding proteinthat is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction incochlear hair cells. Required for normal hearing (By similarity)
Gene Wiki entry for USH1C
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for USH1C
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 11p14.3USH1C Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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17,565,963 bp from pter |
Size:
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50,522 bases |
Orientation:
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minus strand |
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Proteins
for USH1C gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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
Subcellular location: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity).Detected at the tip of cochlear hair cell stereocilia
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 Q9UPC3Alternative 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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y6N9
USH1C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_005700.2 NP_710142.1
ENSEMBL proteins: ENSP00000432236 ENSP00000317018 ENSP00000432944 ENSP00000436934 ENSP00000005226 ENSP00000437128
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
USH1C for ontologies About GeneDecksing
USH1C Antibody Products:
Assay Products for USH1C: |
Protein
Domains /
Families
for USH1C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
USH1C for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y6N9ProtoNet protein and cluster: Q9Y6N9 1 Blocks protein family: IPB001478 PDZ/DHR/GLGF domain
UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9Domain: The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7Domain: The N-terminal region constitutes an independently folded domain that has structural similarity with the CCM2C-terminus, despite very low sequence similaritySimilarity: Contains 3 PDZ (DHR) domains |
Function
for USH1C gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9Function: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding proteinthat is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction incochlear hair cells. Required for normal hearing (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for USH1C (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for USH1C (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): USH1C (NM_005709) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for USH1C | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USH1C |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USH1C |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
USH1C for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for USH1C:
Animal Models:
Mouse knock-outs for USH1C: Ush1ctm1Xzl Ush1ctm1.1Ugds
5 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Ush1c):
USH1C for phenotypes About GeneDecksing
|
Pathways & Interactions
for USH1C gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for USH1C
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/11 Interacting proteins for USH1C (Q9Y6N92, 3 ENSP000000052264) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
USH1C for ontologies About GeneDecksing
|
Drugs & Compounds
for USH1C gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for USH1C
Search CenterWatch for drugs/clinical trials and news about USH1C
|
Transcripts
for USH1C gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_15367611 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000526313 ENST00000318024(uc001mnf.3 uc009yhb.3 uc001mng.3)
ENST00000527720(uc001mnd.3) ENST00000524811 ENST00000527020 ENST00000529563
ENST00000527551 ENST00000005226(uc001mne.3) ENST00000534556 ENST00000530700
ENST00000526181
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for USH1C (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for USH1C (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): USH1C (NM_005709) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for USH1C | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USH1C |
Additional cDNA 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 24/96 AceView cDNA sequences (see all 96): BQ433907 BG984863 AA327309 BI759447 BK000147 AL045823 BU169544 BX641129 BQ932716 AU106345 BQ215821 NM_153676 CR623186 BI260775 BX370544 AL045824 AK024943 AI272081 AI269960 BI260792 BX344632 AL697956 BX372117 AL556078
GeneLoc Exon Structure
5/6 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
|
Expression
for USH1C gene
(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
| USH1C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAATCAACG
About this image
See USH1C Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for USH1C
SOURCE GeneReport for Unigene cluster: Hs.502072
UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9Tissue specificity: Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also investibule of the inner ear
SABiosciences Custom PCR Arrays for USH1C
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for USH1C
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat USH1C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat USH1C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USH1C | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USH1C |
Orthologs
for USH1C gene
(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 USH1C gene from 5/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
USH1C1 |
Usher syndrome 1C (autosomal recessive, severe) |
70.01(n)
74.09(a) |
|
423073 XM_421006.3 XP_421006.3 |
lizard
(Anolis carolinensis) |
Reptilia |
USH1C6 |
-- |
66(a) |
1 ↔ 1 |
1(66895155-66949839) |
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) |
68.39(n)
70.82(a) |
|
564412 NM_001039929.1 NP_001035018.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG59216 |
-- |
16(a) |
1 ↔ 1 |
X(5945035-5958719) |
ENSEMBL Gene Tree for USH1C (if available)
TreeFam Gene Tree for USH1C (if available) |
Paralogs
for USH1C gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| 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
USH1C for paralogs About GeneDecksing
|
Genomic Variants
for USH1C gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for USH1C (17515442 - 17565963 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for USH1C
2 CNVs: 2165 6909
Human Gene Mutation Database (HGMD): USH1C
Locus Specific Mutation Databases (LSDB): USH1C
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing USH1C |
|
Disorders
/ Diseases
for USH1C gene
(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.)
About This Section
|
USH1C for disorders About GeneDecksing
OMIM gene information: 605242
OMIM disorders: 276904 602092
UniProtKB/Swiss-Prot: USH1C_HUMAN, Q9Y6N9
Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:276904]; also known as Usher syndrometype I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitispigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguishUsher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized byprofound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitispigmentosa leading to blindness Defects in USH1C are the cause of deafness, autosomal recessive, 18A (DFNB18A) [MIM:602092]. A form ofsensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, thenerve pathways to the brain, or the area of the brain that receives sound information
20/22  diseases for USH1C (see all 22): About MalaCardsusher syndrome, type 1c usher syndrome deafness, autosomal recessive 18 autoimmune enteropathy
usher syndrome type 1g renal carcinoma bardet-biedl syndrome usher syndrome type i
usher syndrome type 3 hearing loss carcinoma retinal degeneration
hyperinsulinism renal cell carcinoma retinitis retinal disease
colon cancer blindness ataxia adenocarcinoma
4 diseases from the University of Copenhagen DISEASES database for USH1C:Usher syndrome Retinitis pigmentosa Sensorineural hearing loss Nonsyndromic deafness 3 Novoseek disease relationships for USH1C gene About this table
GeneTests: USH1C
Usher Syndrome Type 1
Genetic Association Database (GAD): USH1C
Human Genome Epidemiology (HuGE) Navigator: USH1C (5 documents)
Export disorders for USH1C gene to outside databases
|
Publications
for USH1C gene (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 USH1C gene, integrated from 9 sources (see all 76):
(articles sorted by number of sources associating them with USH1C) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2000)
- 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. (2002)
- 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. (2010)
- Identification of an autoimmune enteropathy-related 75-kilodalton antigen. (PubMed id 10500064)1, 2, 9 Kobayashi I....Kobayashi K. (1999)
- 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. (2009)
- 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. (2005)
- 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. (2005)
- An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
- 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)
- Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (PubMed id 12588794)1, 2 Weil D.... Petit C. (2003)
|
External Searches for USH1C gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing USH1C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing USH1C gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing USH1C gene(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
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| Name | Description |
| PharmGKB entry for USH1C | Pharmacogenomics, SNPs, Pathways | | Mutations of the USH1C gene | http://www.retina-international.org/files/sci-news/ush1cmut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH1C |
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About This Section
| 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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Products
for USH1C gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for USH1C | | OriGene shRNA RFP for USH1C | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for USH1C | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for USH1C | | | OriGene Protein Over-expression Lysate for USH1C | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for USH1C | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for USH1C | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for USH1C | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for USH1C | | OriGene Custom Protein Services for USH1C | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat USH1C | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing USH1C | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USH1C | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat USH1C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USH1C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat USH1C |
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| | | | Search Tocris compounds for USH1C |
| |  |  |  |  | | | | | | Recombinant Protein for USH1C |
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 | | | USH1C Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USH1C |
|  |  |  | | | | ThermoFisher Antibodies for USH1C |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USH1C |
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