Entity Details

Primary name CSCL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO94886
EntryNameCSCL1_HUMAN
FullNameCSC1-like protein 1
TaxID9606
Evidenceevidence at protein level
Length807
SequenceStatuscomplete
DateCreated2007-03-20
DateModified2021-06-02

Ontological Relatives

GenesTMEM63A

GO terms

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GOName
GO:0003676 nucleic acid binding
GO:0005227 calcium activated cation channel activity
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0008381 mechanosensitive ion channel activity
GO:0016021 integral component of membrane
GO:0034451 centriolar satellite
GO:0035579 specific granule membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0043312 neutrophil degranulation
GO:0070062 extracellular exosome
GO:0070821 tertiary granule membrane
GO:1990760 osmolarity-sensing cation channel activity

Subcellular Location

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Subcellular Location
Cell membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR003864 Calcium-dependent channel, 7TM region, putative phosphateDomainDomain
IPR026957 CSC1-like protein 1FamilyFamily
IPR027815 10TM putative phosphate transporter, cytosolic domainDomainDomain
IPR032880 Calcium permeable stress-gated cation channel 1, N-terminal transmembrane domainDomainDomain
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618688 OMIMLeukodystrophy, hypomyelinating, 19, transient infantile (HLD19)An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions