Entity Details

Primary name USH1C_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y6N9
EntryNameUSH1C_HUMAN
FullNameHarmonin
TaxID9606
Evidenceevidence at protein level
Length552
SequenceStatuscomplete
DateCreated2002-01-23
DateModified2021-06-02

Ontological Relatives

GenesUSH1C

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

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR001478 PDZ domainDomainDomain
IPR030237 HarmoninFamilyFamily
IPR036034 PDZ superfamilyFamilyHomologous superfamily

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

30 interactions

InteractorPartnerSourcesPublicationsLink
USH1C_HUMANUSBP1_HUMANBioGRID, HPRD, MINT11311560 details
USH1C_HUMANUSH1C_HUMANBioGRID, HPRD, MINT12407180 12485990 details
USH1C_HUMANUSH1G_HUMANBioGRID, DIP, HPRD, IntAct, MINT12588794 20142502 25502805 26264872 27173435 28514442 29997244 31515488 32814053 unassigned1312 details
USH1C_HUMANQKI_HUMANBioGRID, HPRD, IntAct16713569 details
USH1C_HUMANRAC1_HUMANBioGRID, IntAct25416956 details
USH1C_HUMANMIPO1_HUMANBioGRID, IntAct25416956 details
USH1C_HUMANCTNL1_HUMANBioGRID, IntAct25416956 details
USH1C_HUMANUSH2A_HUMANIntAct16301216 details
USH1C_HUMANS4A7_HUMANIntAct16301216 details
USH1C_HUMANAGRV1_HUMANIntAct16301216 details
USH1C_HUMANPCDBC_HUMANBioGRID, IntAct32296183 details
USH1C_HUMANANS4B_HUMANBioGRID, HPRD, IntAct15461667 32296183 details
USH1C_HUMANENKD1_HUMANBioGRID, IntAct32296183 details
USH1C_HUMANAAPK2_HUMANBioGRID, IntAct32296183 details
USH1C_HUMANCAD23_HUMANBioGRID, DIP, HPRD12407180 12485990 12588794 19297620 details
USH1C_HUMANMYO7A_HUMANBioGRID, HPRD12485990 12588794 details
USH1C_HUMANFBX7_HUMANBioGRID27503909 details
USH1C_HUMANCDHR5_HUMANIntAct24725409 details
USH1C_HUMANCDHR2_HUMANIntAct24725409 details
USH1C_HUMANMYO7B_HUMANIntAct24725409 details
USH1C_HUMANWDR20_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANUBP46_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANWDR48_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANLTV1_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANTBB1_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANNHRF2_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANCSN8_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANCSN1_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANTBA3C_HUMANBioGRID, IntAct27173435 unassigned1312 details
USH1C_HUMANTBA3D_HUMANBioGRID, IntAct27173435 unassigned1312 details