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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. |
21. | Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. | Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717. |
22. | Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. | Zwaenepoel I, etal., Hum Mutat. 2001;17(1):34-41. |
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) |
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USH1C (Homo sapiens - human) |
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Ush1c (Mus musculus - house mouse) |
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Ush1c (Chinchilla lanigera - long-tailed chinchilla) |
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USH1C (Pan paniscus - bonobo/pygmy chimpanzee) |
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USH1C (Canis lupus familiaris - dog) |
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Ush1c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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USH1C (Sus scrofa - pig) |
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USH1C (Chlorocebus sabaeus - green monkey) |
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Ush1c (Heterocephalus glaber - naked mole-rat) |
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Variants in Ush1c
95 total Variants ![]() |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH132432 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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16 | 11 | 13 | 105 | 68 | 63 | 36 | 25 | 36 | 6 | 211 | 70 | 9 | 77 | 81 | 84 | 27 | 15 | 15 |
RefSeq Transcripts | NM_212521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006229221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006229222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC120807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF467854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY588414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC098641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000067392 ⟹ ENSRNOP00000061783 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000100210 ⟹ ENSRNOP00000080627 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000103742 ⟹ ENSRNOP00000077287 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000120175 ⟹ ENSRNOP00000086685 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_212521 ⟹ NP_997686 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006229222 ⟹ XP_006229284 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
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 | ||
ENSRNOP00000061783.1 | |||
ENSRNOP00000077287.1 | |||
ENSRNOP00000080627 | |||
ENSRNOP00000080627.1 | |||
ENSRNOP00000086685.1 |
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 |
Ensembl Acc Id: | ENSRNOP00000086685 ⟸ ENSRNOT00000120175 |
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: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1303329 | AgrOrtholog |
BioCyc Gene | G2FUF-59631 | BioCyc |
Ensembl Genes | ENSRNOG00000021149 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000067392 | ENTREZGENE |
ENSRNOT00000067392.3 | UniProtKB/TrEMBL | |
ENSRNOT00000100210 | ENTREZGENE | |
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 |
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 |
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gene_disease | mutation of the human homolog causes Usher syndrome type 1C, which is characterized by congenital deafness and prepubertal-onset retinitis pigmentosa | 1303964 |