Entity Details

Primary name CLIC5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NZA1
EntryNameCLIC5_HUMAN
FullNameChloride intracellular channel protein 5
TaxID9606
Evidenceevidence at protein level
Length410
SequenceStatuscomplete
DateCreated2002-03-27
DateModified2021-06-02

Ontological Relatives

GenesCLIC5

GO terms

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GOName
GO:0005244 voltage-gated ion channel activity
GO:0005254 chloride channel activity
GO:0005794 Golgi apparatus
GO:0005815 microtubule organizing center
GO:0005938 cell cortex
GO:0006749 glutathione metabolic process
GO:0006821 chloride transport
GO:0007565 female pregnancy
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0015629 actin cytoskeleton
GO:0016324 apical plasma membrane
GO:0034707 chloride channel complex
GO:0034765 regulation of ion transmembrane transport
GO:0050896 response to stimulus
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Apical cell membrane
Cytoplasm
Golgi apparatus
Membrane

Domains

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DomainNameCategoryType
IPR002946 Intracellular chloride channelFamilyFamily
IPR004045 Glutathione S-transferase, N-terminalDomainDomain
IPR010987 Glutathione S-transferase, C-terminal-likeDomainDomain
IPR030264 Chloride intracellular channel protein 5FamilyFamily
IPR036249 Thioredoxin-like superfamilyFamilyHomologous superfamily
IPR036282 Glutathione S-transferase, C-terminal domain superfamilyFamilyHomologous superfamily
IPR040079 Glutathione Transferase familyFamilyFamily
IPR042069 CLIC5, C-terminal GST domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616042 OMIMDeafness, autosomal recessive, 103 (DFNB103)A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. The disease is caused by variants affecting the gene represented in this entry.