Entity Details

Primary name USH1G_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ495M9
EntryNameUSH1G_HUMAN
FullNameUsher syndrome type-1G protein
TaxID9606
Evidenceevidence at protein level
Length461
SequenceStatuscomplete
DateCreated2005-11-08
DateModified2021-06-02

Ontological Relatives

GenesUSH1G

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007605 sensory perception of sound
GO:0015629 actin cytoskeleton
GO:0030507 spectrin binding
GO:0032391 photoreceptor connecting cilium
GO:0036064 ciliary basal body
GO:0042472 inner ear morphogenesis
GO:0042802 identical protein binding
GO:0045494 photoreceptor cell maintenance
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0060122 inner ear receptor cell stereocilium organization

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR001660 Sterile alpha motif domainDomainDomain
IPR002110 Ankyrin repeatRepeatRepeat
IPR013761 Sterile alpha motif/pointed domain superfamilyFamilyHomologous superfamily
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily
IPR037602 USH1G, SAM domainDomainDomain

Diseases

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Disease IDSourceNameDescription
606943 OMIMUsher syndrome 1G (USH1G)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.
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.