Ush1c (USH1 protein network component harmonin) - Rat Genome Database

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Gene: Ush1c (USH1 protein network component harmonin) Rattus norvegicus
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Symbol: Ush1c
Name: USH1 protein network component harmonin
RGD ID: 1303329
Description: Predicted to enable spectrin binding activity. Predicted to be involved in several processes, including G2/M transition of mitotic cell cycle; neuron development; and photoreceptor cell maintenance. Predicted to act upstream of or within inner ear development; neuromuscular process controlling balance; and parallel actin filament bundle assembly. Located in photoreceptor inner segment; photoreceptor outer segment; and stereocilium. Human ortholog(s) of this gene implicated in Usher syndrome; Usher syndrome type 1; Usher syndrome type 1C; and autosomal recessive nonsyndromic deafness 18A. Orthologous to human USH1C (USH1 protein network component harmonin); PARTICIPATES IN auditory mechanotransduction pathway; retinitis pigmentosa pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: harmonin; harmonin a1; MGC112571; Usher syndrome 1C; Usher syndrome 1C homolog; Usher syndrome 1C homolog (human)
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,831,719 - 105,880,082 (-)NCBIGRCr8
mRatBN7.2196,695,303 - 96,743,671 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl196,695,307 - 96,743,671 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1102,081,448 - 102,129,809 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01110,553,421 - 110,601,783 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01103,843,796 - 103,892,162 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01102,207,096 - 102,256,779 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1102,207,096 - 102,255,459 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01103,291,318 - 103,340,928 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,720,185 - 96,768,550 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1196,798,295 - 96,846,661 (-)NCBI
Celera190,943,948 - 90,992,307 (-)NCBICelera
Cytogenetic Map1q22NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ush1cRatautosomal recessive nonsyndromic deafness  ISOUSH1C (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10973247 more ...
Ush1cRatAutosomal Recessive Nonsyndromic Deafness 18  ISOUSH1C (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10973247 more ...
Ush1cRatautosomal recessive nonsyndromic deafness 18A  ISOUSH1C (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10973247 more ...
Ush1cRatfundus dystrophy  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Retinal dystrophyClinVarPMID:10973247 more ...
Ush1cRatgenetic disease  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:10973247 more ...
Ush1cRatHearing Loss  ISOUSH1C (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10973247 more ...
Ush1cRatintellectual disability  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVar 
Ush1cRatMeniere's disease  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Meniere diseaseClinVarPMID:12136232 more ...
Ush1cRatoptic atrophy  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Optic atrophyClinVarPMID:12136232 more ...
Ush1cRatprogressive myoclonus epilepsy 7  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7ClinVarPMID:28492532
Ush1cRatretinitis pigmentosa  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Retinitis pigmentosaClinVarPMID:10973247 more ...
Ush1cRatretinitis pigmentosa-deafness syndrome  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndromeClinVar 
Ush1cRatUsher syndrome  ISOUSH1C (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10973247 more ...
Ush1cRatUsher syndrome  ISOUSH1C (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10973247 more ...
Ush1cRatUsher syndrome  ISOUSH1C (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10973247 more ...
Ush1cRatUsher syndrome type 1  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Usher syndrome type 1ClinVarPMID:10973247 more ...
Ush1cRatUsher Syndrome Type 1B  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafnessClinVarPMID:10973247 more ...
Ush1cRatUsher Syndrome Type 1B  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafnessClinVarPMID:10973247 more ...
Ush1cRatUsher Syndrome Type 1B  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafnessClinVarPMID:10973247 more ...
Ush1cRatUsher syndrome type 1C  ISOUSH1C (Homo sapiens)8554872ClinVar Annotator: match by term: Usher syndrome type 1CClinVarPMID:10973247 more ...
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ush1cRatUsher Syndrome Type 1B  ISOUSH1C (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
Ush1cRatUsher syndrome type 1C  ISOUSH1C (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:12136232
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ush1cRatautosomal recessive nonsyndromic deafness 18A  ISSUsh1c (Mus musculus)13592920OMIM:602092MouseDO 
Ush1cRatUsher syndrome type 1C  ISSUsh1c (Mus musculus)13592920OMIM:276904MouseDO 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ush1cRatautosomal recessive nonsyndromic deafness 18A  ISOUSH1C (Homo sapiens)7240710 OMIM 
Ush1cRatUsher syndrome type 1C  ISOUSH1C (Homo sapiens)7240710 OMIM 

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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ush1cRat1,2-dimethylhydrazine decreases expressionISOUsh1c (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of USH1C mRNACTDPMID:22206623
Ush1cRat17beta-estradiol increases expressionEXP 6480464Estradiol results in increased expression of USH1C proteinCTDPMID:32145629
Ush1cRat2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISOUsh1c (Mus musculus)6480464[2 more ...CTDPMID:25510870
Ush1cRat2,2',5,5'-tetrachlorobiphenyl multiple interactionsISOUsh1c (Mus musculus)6480464[2 more ...CTDPMID:25510870
Ush1cRat2,3,7,8-tetrachlorodibenzodioxine affects expressionEXP 6480464Tetrachlorodibenzodioxin affects the expression of USH1C mRNACTDPMID:22298810
Ush1cRat4,4'-sulfonyldiphenol affects methylationISOUsh1c (Mus musculus)6480464bisphenol S affects the methylation of USH1C geneCTDPMID:31683443
Ush1cRat4-hydroxyphenyl retinamide increases expressionISOUsh1c (Mus musculus)6480464Fenretinide results in increased expression of USH1C mRNACTDPMID:28973697
Ush1cRat6-propyl-2-thiouracil multiple interactionsISOUsh1c (Mus musculus)6480464[Propylthiouracil co-treated with Iodine deficiency] results in decreased expression of USH1C mRNACTDPMID:36706583
Ush1cRatactinomycin D multiple interactionsISOUSH1C (Homo sapiens)6480464[Dactinomycin co-treated with nutlin 3] results in increased expression of USH1C mRNACTDPMID:38460933
Ush1cRataflatoxin B1 affects methylationISOUSH1C (Homo sapiens)6480464Aflatoxin B1 affects the methylation of USH1C intronCTDPMID:30157460
Ush1cRatAflatoxin B2 alpha increases methylationISOUSH1C (Homo sapiens)6480464aflatoxin B2 results in increased methylation of USH1C intronCTDPMID:30157460
Ush1cRatbenzo[a]pyrene affects methylationISOUSH1C (Homo sapiens)6480464Benzo(a)pyrene affects the methylation of USH1C intron and Benzo(a)pyrene affects the methylation of USH1C promoterCTDPMID:27901495 and PMID:30157460
Ush1cRatbenzo[a]pyrene increases methylationISOUSH1C (Homo sapiens)6480464Benzo(a)pyrene results in increased methylation of USH1C exonCTDPMID:27901495
Ush1cRatbenzo[e]pyrene increases methylationISOUSH1C (Homo sapiens)6480464benzo(e)pyrene results in increased methylation of USH1C intronCTDPMID:30157460
Ush1cRatbisphenol A decreases expressionISOUsh1c (Mus musculus)6480464bisphenol A results in decreased expression of USH1C mRNACTDPMID:26063408
Ush1cRatbisphenol A decreases methylationISOUSH1C (Homo sapiens)6480464bisphenol A results in decreased methylation of USH1C geneCTDPMID:31601247
Ush1cRatbisphenol A increases expressionEXP 6480464bisphenol A results in increased expression of USH1C proteinCTDPMID:32145629
Ush1cRatbisphenol A increases methylationEXP 6480464bisphenol A results in increased methylation of USH1C geneCTDPMID:28505145
Ush1cRatbisphenol A increases expressionISOUsh1c (Mus musculus)6480464bisphenol A results in increased expression of USH1C mRNACTDPMID:25594700
Ush1cRatbisphenol A decreases expressionEXP 6480464bisphenol A results in decreased expression of USH1C mRNACTDPMID:25181051

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Biological Process
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Object Symbol
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Reference
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Original Reference(s)
Ush1cRatactin filament bundle assembly acts_upstream_of_or_withinISOUsh1c (Mus musculus)1624291 PMID:12485990RGDPMID:12485990
Ush1cRatauditory receptor cell morphogenesis involved_inIBAPANTHER:PTN002750520 and UniProtKB:A0A8M3AZQ51600115GO_REF:0000033GO_CentralGO_REF:0000033
Ush1cRatbrush border assembly involved_inISOUsh1c (Mus musculus)1624291 PMID:24725409RGDPMID:24725409
Ush1cRatbrush border assembly involved_inISOUSH1C (Homo sapiens)1624291 PMID:24725409 and PMID:32209652RGDPMID:24725409 and PMID:32209652
Ush1cRatequilibrioception involved_inISOUSH1C (Homo sapiens)1624291 PMID:10973247RGDPMID:10973247
Ush1cRatG2/M transition of mitotic cell cycle involved_inISOUSH1C (Homo sapiens)1624291 PMID:15219944RGDPMID:15219944
Ush1cRatinner ear auditory receptor cell differentiation acts_upstream_of_or_withinISOUsh1c (Mus musculus)1624291MGI:2651858 more ...RGDPMID:14519688
Ush1cRatinner ear morphogenesis acts_upstream_of_or_withinISOUsh1c (Mus musculus)1624291MGI:2651858 more ...RGDPMID:14519688
Ush1cRatinner ear receptor cell stereocilium organization involved_inIBAMGI:1919338 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Ush1cRatinner ear receptor cell stereocilium organization acts_upstream_of_or_withinISOUsh1c (Mus musculus)1624291MGI:3757683 PMID:18339676RGDPMID:18339676
Ush1cRatneuromuscular process controlling balance acts_upstream_of_or_withinISOUsh1c (Mus musculus)1624291MGI:2651858 more ...RGDPMID:14519688
Ush1cRatparallel actin filament bundle assembly acts_upstream_of_or_withinISOUsh1c (Mus musculus)1624291 PMID:12485990RGDPMID:12485990
Ush1cRatphotoreceptor cell maintenance involved_inISOUSH1C (Homo sapiens)1624291 PMID:11398101RGDPMID:11398101
Ush1cRatprotein localization to microvillus involved_inISOUsh1c (Mus musculus)1624291 PMID:24725409RGDPMID:24725409
Ush1cRatprotein localization to microvillus involved_inISOUSH1C (Homo sapiens)1624291 PMID:24725409 and PMID:26812018RGDPMID:24725409 and PMID:26812018
Ush1cRatprotein-containing complex assembly involved_inISOUSH1C (Homo sapiens)1624291 PMID:26812018RGDPMID:26812018
Ush1cRatregulation of microvillus length involved_inISOUsh1c (Mus musculus)1624291 PMID:24725409RGDPMID:24725409
Ush1cRatretinal cone cell development involved_inIBAPANTHER:PTN002750520 and UniProtKB:A0A8M3AZQ51600115GO_REF:0000033GO_CentralGO_REF:0000033
Ush1cRatsensory perception of light stimulus involved_inISOUSH1C (Homo sapiens)1624291 PMID:11398101RGDPMID:11398101
Ush1cRatsensory perception of sound involved_inISOUSH1C (Homo sapiens)1624291 PMID:11398101RGDPMID:11398101
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Cellular Component
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Object Symbol
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Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
Ush1cRatapical part of cell located_inISOUSH1C (Homo sapiens)1624291 PMID:10209257RGDPMID:10209257
Ush1cRatbrush border located_inISOUSH1C (Homo sapiens)1624291 PMID:21330445 and PMID:24725409RGDPMID:21330445 and PMID:24725409
Ush1cRatbrush border located_inISOUsh1c (Mus musculus)1624291 PMID:22114352 and PMID:24725409RGDPMID:22114352 and PMID:24725409
Ush1cRatcilium is_active_inIBAMGI:1919338 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Ush1cRatcytoplasm located_inISOUSH1C (Homo sapiens)1624291 PMID:10209257RGDPMID:10209257
Ush1cRatcytosol located_inIEAUniProtKB:Q9Y6N9 and ensembl:ENSP000000052261600115GO_REF:0000107EnsemblGO_REF:0000107
Ush1cRatcytosol located_inISOUSH1C (Homo sapiens) more ...1624291 RGDGO_REF:0000052
Ush1cRatmicrovillus located_inISOUSH1C (Homo sapiens)1624291 PMID:24725409 and PMID:32209652RGDPMID:24725409 and PMID:32209652
Ush1cRatmicrovillus located_inISOUsh1c (Mus musculus)1624291 PMID:24725409RGDPMID:24725409
Ush1cRatphotoreceptor inner segment  IDA 1303964 RGD 
Ush1cRatphotoreceptor inner segment located_inISOUsh1c (Mus musculus)1624291 PMID:14578428 and PMID:17906286RGDPMID:14578428 and PMID:17906286
Ush1cRatphotoreceptor inner segment is_active_inIBAMGI:1919338 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Ush1cRatphotoreceptor outer segment  IDA 1303964 RGD 
Ush1cRatphotoreceptor outer segment located_inISOUsh1c (Mus musculus)1624291 PMID:14578428 and PMID:17906286RGDPMID:14578428 and PMID:17906286
Ush1cRatplasma membrane is_active_inIBAMGI:1919338 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Ush1cRatplasma membrane located_inISOUsh1c (Mus musculus)1624291 PMID:15461667RGDPMID:15461667
Ush1cRatstereocilia ankle link complex part_ofIBAMGI:2682003 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Ush1cRatstereocilium  IDA 8548636 RGD 
Ush1cRatstereocilium located_inISOUsh1c (Mus musculus)1624291 PMID:12485990 and PMID:20016102RGDPMID:12485990 and PMID:20016102
Ush1cRatstereocilium is_active_inISOUsh1c (Mus musculus)1624291 PMID:26754646RGDPMID:26754646
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RGD Manual Annotations


  

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Reference Title
Reference Citation
1. Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Ebermann I, etal., Genome Biol. 2007;8(4):R47.
2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
3. Mechanotransduction by hair cells: models, molecules, and mechanisms. Gillespie PG and Muller U, Cell. 2009 Oct 2;139(1):33-44. doi: 10.1016/j.cell.2009.09.010.
4. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Johnson KR, etal., Hum Mol Genet. 2003 Dec 1;12(23):3075-86. Epub 2003 Sep 30.
5. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Kazmierczak P and Muller U, Trends Neurosci. 2012 Apr;35(4):220-9. doi: 10.1016/j.tins.2011.10.007. Epub 2011 Dec 15.
6. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. Khateb S, etal., PLoS One. 2012;7(12):e51566. doi: 10.1371/journal.pone.0051566. Epub 2012 Dec 12.
7. Deafness and retinal degeneration in a novel USH1C knock-in mouse model. Lentz JJ, etal., Dev Neurobiol. 2010 Mar;70(4):253-67. doi: 10.1002/dneu.20771.
8. Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Lentz JJ, etal., Nat Med. 2013 Mar;19(3):345-50. doi: 10.1038/nm.3106. Epub 2013 Feb 4.
9. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Ouyang XM, etal., Hum Genet. 2002 Jul;111(1):26-30. Epub 2002 Jun 18.
12. The giant spectrin betaV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Papal S, etal., Hum Mol Genet. 2013 Sep 15;22(18):3773-88. doi: 10.1093/hmg/ddt228. Epub 2013 May 23.
13. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Reiners J, etal., Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21.
14. Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Reiners J, etal., Invest Ophthalmol Vis Sci 2003 Nov;44(11):5006-15.
15. GOA pipeline RGD automated data pipeline
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Saihan Z, etal., Retina. 2011 Sep;31(8):1708-16. doi: 10.1097/IAE.0b013e31820d3fd1.
19. Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse. Tian C, etal., Brain Res. 2010 Apr 30;1328:57-70. doi: 10.1016/j.brainres.2010.02.079. Epub 2010 Mar 6.
20. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Verpy E, etal., Nat Genet. 2000 Sep;26(1):51-5.
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PMID:10209257   PMID:11398101   PMID:12477932   PMID:12485990   PMID:14962669   PMID:15219944   PMID:15461667   PMID:17906286   PMID:18339676   PMID:20016102   PMID:21330445   PMID:22114352  
PMID:24725409   PMID:26754646   PMID:26812018  



Ush1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,831,719 - 105,880,082 (-)NCBIGRCr8
mRatBN7.2196,695,303 - 96,743,671 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl196,695,307 - 96,743,671 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1102,081,448 - 102,129,809 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01110,553,421 - 110,601,783 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01103,843,796 - 103,892,162 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01102,207,096 - 102,256,779 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1102,207,096 - 102,255,459 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01103,291,318 - 103,340,928 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,720,185 - 96,768,550 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1196,798,295 - 96,846,661 (-)NCBI
Celera190,943,948 - 90,992,307 (-)NCBICelera
Cytogenetic Map1q22NCBI
USH1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381117,493,900 - 17,544,416 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1117,493,895 - 17,544,416 (-)EnsemblGRCh38hg38GRCh38
GRCh371117,515,447 - 17,565,963 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361117,472,018 - 17,522,539 (-)NCBINCBI36Build 36hg18NCBI36
Celera1117,645,289 - 17,695,946 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1117,199,243 - 17,249,828 (-)NCBIHuRef
CHM1_11117,515,265 - 17,565,784 (-)NCBICHM1_1
T2T-CHM13v2.01117,591,495 - 17,642,149 (-)NCBIT2T-CHM13v2.0
Ush1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,844,774 - 45,887,984 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl745,844,774 - 45,887,927 (-)EnsemblGRCm39 Ensembl
GRCm38746,195,350 - 46,238,490 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl746,195,350 - 46,238,503 (-)EnsemblGRCm38mm10GRCm38
MGSCv37753,450,721 - 53,493,860 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36746,063,399 - 46,106,532 (-)NCBIMGSCv36mm8
Celera741,668,925 - 41,712,073 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.66NCBI
Ush1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541432,298,759 - 32,351,505 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541432,303,045 - 32,351,401 (-)NCBIChiLan1.0ChiLan1.0
USH1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2919,827,448 - 19,877,874 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11119,787,920 - 19,838,443 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01117,548,501 - 17,598,923 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11117,233,854 - 17,284,256 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1117,233,854 - 17,284,256 (-)Ensemblpanpan1.1panPan2
USH1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12140,055,786 - 40,100,685 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2140,055,730 - 40,101,430 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2139,555,651 - 39,600,543 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02141,161,015 - 41,205,900 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2141,160,539 - 41,205,845 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12140,173,714 - 40,218,550 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02140,380,893 - 40,425,786 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02140,719,734 - 40,764,634 (-)NCBIUU_Cfam_GSD_1.0
Ush1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494745,513,303 - 45,560,765 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365281,552,289 - 1,594,801 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365281,552,175 - 1,594,740 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USH1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl241,593,802 - 41,647,247 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1241,593,793 - 41,646,777 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2244,613,841 - 44,706,204 (+)NCBISscrofa10.2Sscrofa10.2susScr3
USH1C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1147,428,181 - 47,477,578 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl147,437,596 - 47,477,834 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038144,848,688 - 144,898,245 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ush1c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247669,105,990 - 9,153,663 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247669,097,466 - 9,153,602 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in Ush1c
95 total Variants

Predicted Target Of
Summary Value
Count of predictions:159
Count of miRNA genes:115
Interacting mature miRNAs:123
Transcripts:ENSRNOT00000067392
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 45 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2313059Bss55Bone structure and strength QTL 553.20.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
70209Niddm23Non-insulin dependent diabetes mellitus QTL 232.82blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)194494440198324465Rat
631688Hcas2Hepatocarcinoma susceptibility QTL 230.0001liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)15925874115540829Rat
1582234Gluco18Glucose level QTL 183.40.0003blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)178479925123479925Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)130882023123479925Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)149393289199050459Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
1331793Bp200Blood pressure QTL 2003.71601arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194494440172949803Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)149393172159356837Rat
2300324Fetw1Fetal weight QTL 112.10.005fetal growth trait (VT:0004201)fetal body weight (CMO:0002080)185424647100358001Rat

1 to 10 of 45 rows
RH132432  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2196,695,430 - 96,695,611 (+)MAPPERmRatBN7.2
Rnor_6.01102,207,224 - 102,207,404NCBIRnor6.0
Rnor_5.01103,291,446 - 103,291,626UniSTSRnor5.0
RGSC_v3.4196,720,309 - 96,720,489UniSTSRGSC3.4
Celera190,944,072 - 90,944,252UniSTS
RH 3.4 Map1907.8UniSTS
Cytogenetic Map1q22UniSTS




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 11 77 68 63 36 25 36 6 157 59 57 45 60 27



Ensembl Acc Id: ENSRNOT00000067392   ⟹   ENSRNOP00000061783
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl196,695,307 - 96,743,671 (-)Ensembl
Rnor_6.0 Ensembl1102,207,096 - 102,255,459 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000100210   ⟹   ENSRNOP00000080627
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl196,695,619 - 96,743,671 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000103742   ⟹   ENSRNOP00000077287
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl196,695,307 - 96,743,671 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000120175   ⟹   ENSRNOP00000086685
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl196,697,168 - 96,731,071 (-)Ensembl
RefSeq Acc Id: NM_212521   ⟹   NP_997686
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81105,831,723 - 105,880,082 (-)NCBI
mRatBN7.2196,695,307 - 96,743,671 (-)NCBI
Rnor_6.01102,207,100 - 102,255,459 (-)NCBI
Rnor_5.01103,291,318 - 103,340,928 (-)NCBI
RGSC_v3.4196,720,185 - 96,768,550 (-)RGD
Celera190,943,948 - 90,992,307 (-)RGD
Sequence:
RefSeq Acc Id: XM_006229222   ⟹   XP_006229284
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81105,831,719 - 105,880,072 (-)NCBI
mRatBN7.2196,695,303 - 96,743,650 (-)NCBI
Rnor_6.01102,207,096 - 102,256,779 (-)NCBI
Rnor_5.01103,291,318 - 103,340,928 (-)NCBI
Sequence:
1 to 9 of 9 rows
Protein RefSeqs NP_997686 (Get FASTA)   NCBI Sequence Viewer  
  XP_006229284 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH98641 (Get FASTA)   NCBI Sequence Viewer  
  AAT00379 (Get FASTA)   NCBI Sequence Viewer  
  EDM07268 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000061783.1
  ENSRNOP00000077287.1
  ENSRNOP00000080627.1
  ENSRNOP00000086685.1
1 to 9 of 9 rows
RefSeq Acc Id: NP_997686   ⟸   NM_212521
- UniProtKB: Q4KMB9 (UniProtKB/TrEMBL),   A6JBB6 (UniProtKB/TrEMBL),   Q6PPF3 (UniProtKB/TrEMBL),   F7FHE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006229284   ⟸   XM_006229222
- Peptide Label: isoform X1
- UniProtKB: A0A8I5ZR66 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000061783   ⟸   ENSRNOT00000067392
Ensembl Acc Id: ENSRNOP00000080627   ⟸   ENSRNOT00000100210
Ensembl Acc Id: ENSRNOP00000077287   ⟸   ENSRNOT00000103742
PDZ

Name Modeler Protein Id AA Range Protein Structure
AF-Q4KMB9-F1-model_v2 AlphaFold Q4KMB9 1-548 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13690060
Promoter ID:EPDNEW_R585
Type:initiation region
Name:Ush1c_1
Description:USH1 protein network component harmonin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01102,255,431 - 102,255,491EPDNEW


1 to 33 of 33 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-59631 BioCyc
Ensembl Genes ENSRNOG00000021149 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000067392.3 UniProtKB/TrEMBL
  ENSRNOT00000100210.1 UniProtKB/TrEMBL
  ENSRNOT00000103742.1 UniProtKB/TrEMBL
  ENSRNOT00000120175.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1160.20 UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7109129 IMAGE-MGC_LOAD
InterPro Harmonin UniProtKB/TrEMBL
  PDZ/DHR/GLGF UniProtKB/TrEMBL
  PDZ_sf UniProtKB/TrEMBL
  USH2_Complex_Protein UniProtKB/TrEMBL
KEGG Report rno:308596 UniProtKB/TrEMBL
MGC_CLONE MGC:112571 IMAGE-MGC_LOAD
NCBI Gene 308596 ENTREZGENE
PANTHER PDZ DOMAIN CONTAINING WHIRLIN AND HARMONIN-RELATED UniProtKB/TrEMBL
  PTHR23116:SF36 UniProtKB/TrEMBL
Pfam PDZ UniProtKB/TrEMBL
  USH1C_N UniProtKB/TrEMBL
PhenoGen Ush1c PhenoGen
PROSITE PDZ UniProtKB/TrEMBL
RatGTEx ENSRNOG00000021149 RatGTEx
SMART PDZ UniProtKB/TrEMBL
Superfamily-SCOP PDZ UniProtKB/TrEMBL
UniProt A0A8I5Y9F7_RAT UniProtKB/TrEMBL
  A0A8I5ZR66 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6A2P6_RAT UniProtKB/TrEMBL
  A6JBB6 ENTREZGENE, UniProtKB/TrEMBL
  F7FHE4 ENTREZGENE, UniProtKB/TrEMBL
  Q4KMB9 ENTREZGENE
  Q6PPF3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q4KMB9 UniProtKB/TrEMBL
1 to 33 of 33 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-24 Ush1c  USH1 protein network component harmonin  Ush1c  Usher syndrome 1C  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-03-27 Ush1c  Usher syndrome 1C  Ush1c  Usher syndrome 1C homolog (human)  Name changed 629549 APPROVED
2005-11-17 Ush1c  Usher syndrome 1C homolog (human)      Name updated 1299863 APPROVED
2005-02-14 Ush1c  harmonin a1      Symbol and Name status set to provisional 70820 PROVISIONAL

Note Type Note Reference
gene_disease mutation of the human homolog causes Usher syndrome type 1C, which is characterized by congenital deafness and prepubertal-onset retinitis pigmentosa 1303964