Entity Details

Primary name USH1C
Entity type gene
Source Source Link

Details

PrimaryID10083
RefseqGeneNG_011883
SymbolUSH1C
NameUSH1 protein network component harmonin
Chromosome11
Location11p15.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-05-25
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsUSH1C_HUMAN

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0002142 stereocilia ankle link complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0005903 brush border
GO:0007605 sensory perception of sound
GO:0030046 parallel actin filament bundle assembly
GO:0030507 spectrin binding
GO:0032420 stereocilium
GO:0032426 stereocilium tip
GO:0032532 regulation of microvillus length
GO:0034622 cellular protein-containing complex assembly
GO:0042472 inner ear morphogenesis
GO:0042491 inner ear auditory receptor cell differentiation
GO:0045177 apical part of cell
GO:0045202 synapse
GO:0045494 photoreceptor cell maintenance
GO:0046549 retinal cone cell development
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0051015 actin filament binding
GO:0051017 actin filament bundle assembly
GO:0060122 inner ear receptor cell stereocilium organization
GO:1904106 protein localization to microvillus
GO:1904970 brush border assembly

Diseases

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Disease IDSourceNameDescription
276904 OMIMUsher syndrome 1C (USH1C)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. The disease is caused by variants affecting the gene represented in this entry.
602092 OMIMDeafness, autosomal recessive, 18A (DFNB18A)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. The disease is caused by variants affecting the gene represented in this entry.
276900 OMIMUsher syndrome 1B (USH1B)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.

Interactions

36 interactions

InteractorPartnerSourcesPublicationsLink
USH1CUSHBP1BioGRID, HPRD, MINT11311560 details
USH1CUSH1CBioGRID, HPRD, MINT12407180 12485990 details
USH1CUSH1GBioGRID, DIP, HPRD, IntAct, MINT12588794 20142502 25502805 26264872 27173435 28514442 29997244 31515488 32814053 unassigned1312 details
USH1CQKIBioGRID, HPRD, IntAct16713569 details
USH1CRAC1BioGRID, IntAct25416956 details
USH1CMIPOL1BioGRID, IntAct25416956 details
USH1CCTNNAL1BioGRID, IntAct25416956 details
USH1CUSH2AIntAct16301216 details
USH1CSLC4A7IntAct16301216 details
USH1CADGRV1IntAct16301216 details
USH1CPCDHB12BioGRID, IntAct32296183 details
USH1CANKS4BBioGRID, HPRD, IntAct15461667 32296183 details
USH1CENKD1BioGRID, IntAct32296183 details
USH1CPRKAA2BioGRID, IntAct32296183 details
USH1CCDH23BioGRID, DIP, HPRD12407180 12485990 12588794 19297620 details
USH1CMYO7ABioGRID, HPRD12485990 12588794 details
USH1CFBXO7BioGRID27503909 details
USH1CCDHR5IntAct24725409 details
USH1CCDHR2IntAct24725409 details
USH1CMYO7BIntAct24725409 details
USH1CWDR20BioGRID, IntAct27173435 unassigned1312 details
USH1CUSP46BioGRID, IntAct27173435 unassigned1312 details
USH1CWDR48BioGRID, IntAct27173435 unassigned1312 details
USH1CLTV1BioGRID, IntAct27173435 unassigned1312 details
USH1CTUBB1BioGRID, IntAct27173435 unassigned1312 details
USH1CSLC9A3R2BioGRID, IntAct27173435 unassigned1312 details
USH1CCOPS8BioGRID, IntAct27173435 unassigned1312 details
USH1CGPS1BioGRID, IntAct27173435 unassigned1312 details
USH1CTUBA3DIntActunassigned1312 details
USH1CTUBA3CBioGRID, IntAct27173435 unassigned1312 details
USH1CMARS1BioGRID, IntAct30021884 details
USH1CH3-4BioGRID, IntAct30021884 details
USH1CH2BC9BioGRID, IntAct30021884 details
USH1CWDR61BioGRID22939629 details
USH1CSAAL1BioGRID22939629 details
USH1CUBA1BioGRID22939629 details