AutismKB 2.0

Annotation Details for USH1C


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Basic Information Top
Gene Symbol:USH1C ( AIE-75,DFNB18,NY-CO-37,NY-CO-38,PDZ-45,PDZ-73,PDZ-73/NY-CO-38,PDZ73,ush1cpst )
Gene Full Name: Usher syndrome 1C (autosomal recessive, severe)
Band: 11p15.1
Quick LinksEntrez ID:10083; OMIM: 605242; Uniprot ID:USH1C_HUMAN; ENSEMBL ID: ENSG00000006611; HGNC ID: 12597
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001750ISS-photoreceptor outer segment-
GO:0001917ISS-photoreceptor inner segment-
GO:0005737IDA-cytoplasm10209257
GO:0005829IDA-cytosol-
GO:0005856IEA-cytoskeleton-
GO:0005886ISS-plasma membrane-
GO:0005902IDA-microvillus24725409
GO:0005903IDA-brush border21330445
GO:0032420ISS-stereocilium-
GO:0032420TAS-stereocilium16464467
GO:0045177IDA-apical part of cell10209257
GO:0045202ISS-synapse-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding11311560
GO:0030507IDA-spectrin binding23704327
GO:0051015IEA-actin filament binding-
GO ID Evidence Qualifier GO_term References
GO:0000086IMP-G2/M transition of mitotic cell cycle15219944
GO:0007605IMP-sensory perception of sound11398101
GO:0030046ISS-parallel actin filament bundle assembly-
GO:0032532ISS-regulation of microvillus length-
GO:0042472ISS-inner ear morphogenesis-
GO:0042491ISS-auditory receptor cell differentiation-
GO:0043623IDA-cellular protein complex assembly26812018
GO:0045494IMP-photoreceptor cell maintenance11398101
GO:0050953IMP-sensory perception of light stimulus11398101
GO:0050957IMP-equilibrioception10973247
GO:0051017ISS-actin filament bundle assembly-
GO:0060122ISS-inner ear receptor stereocilium organization-
GO:1904106IMP-protein localization to microvillus24725409
GO:1904106ISS-protein localization to microvillus-
GO:1904970IMP-brush border assembly24725409
GO:1904970ISS-brush border assembly-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
USH1CMYO7A11073112485990 Reconstituted Complex
USH1CMYO7A11539212485990 Reconstituted Complex
USHBP1USH1C11539211311560 Reconstituted Complex; Two-hybrid
USHBP1USH1C12379111311560 Reconstituted Complex; Two-hybrid
CDH23USH1C12204212407180 12485990 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CDH23USH1C11539212407180 12485990 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
USH1CUSH1C11539212407180 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1919338
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-060312-41'