Entity Details

Primary name CLCC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96S66
EntryNameCLCC1_HUMAN
FullNameChloride channel CLIC-like protein 1
TaxID9606
Evidenceevidence at protein level
Length551
SequenceStatuscomplete
DateCreated2007-08-21
DateModified2021-06-02

Ontological Relatives

GenesCLCC1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005254 chloride channel activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006821 chloride transport
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0034707 chloride channel complex
GO:0043231 intracellular membrane-bounded organelle
GO:0044233 mitochondria-associated endoplasmic reticulum membrane

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane
Nucleus membrane

Domains

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DomainNameCategoryType
IPR009231 Chloride channel CLIC-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
609913 OMIMRetinitis pigmentosa 32 (RP32)A form of retinitis pigmentosa, 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. RP32 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions