Entity Details

Primary name CLRN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP58418
EntryNameCLRN1_HUMAN
FullNameClarin-1
TaxID9606
Evidenceevidence at protein level
Length232
SequenceStatuscomplete
DateCreated2001-12-05
DateModified2021-06-02

Ontological Relatives

GenesCLRN1

GO terms

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GOName
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0007015 actin filament organization
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0010592 positive regulation of lamellipodium assembly
GO:0015630 microtubule cytoskeleton
GO:0016021 integral component of membrane
GO:0030027 lamellipodium
GO:0030140 trans-Golgi network transport vesicle
GO:0032420 stereocilium
GO:0045178 basal part of cell
GO:0045494 photoreceptor cell maintenance
GO:0048870 cell motility
GO:0050896 response to stimulus
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0060088 auditory receptor cell stereocilium organization

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR026748 ClarinFamilyFamily

Diseases

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Disease IDSourceNameDescription
276902 OMIMUsher syndrome 3A (USH3A)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). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. The disease is caused by variants affecting the gene represented in this entry.
614180 OMIMRetinitis pigmentosa 61 (RP61)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Interactions

28 interactions

InteractorPartnerSourcesPublicationsLink
CLRN1_HUMANFA24B_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANCTXN3_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTM239_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANNPT2C_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANSC22B_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTM140_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANCANT1_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANDRAM1_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTM147_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANC2C2L_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANMFSD5_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTMPPE_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANFUT9_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANCLD19_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANMGST3_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANALG8_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTM50B_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANNRM_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANITAM_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANBRID5_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTM86B_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANZDH15_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANCC4L_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTMPS4_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTM222_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANUNC50_HUMANBioGRID, IntAct32296183 details
CLRN1_HUMANTMM31_HUMANBioGRID32296183 details
CLRN1_HUMANTMIE_HUMANBioGRID32296183 details