Entity Details

Primary name CGNL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ0VF96
EntryNameCGNL1_HUMAN
FullNameCingulin-like protein 1
TaxID9606
Evidenceevidence at protein level
Length1302
SequenceStatuscomplete
DateCreated2007-12-04
DateModified2021-06-02

Ontological Relatives

GenesCGNL1

GO terms

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GOName
GO:0005923 bicellular tight junction
GO:0007015 actin filament organization
GO:0016459 myosin complex
GO:0032991 protein-containing complex
GO:0051058 negative regulation of small GTPase mediated signal transduction
GO:0051497 negative regulation of stress fiber assembly
GO:0150105 protein localization to cell-cell junction

Subcellular Location

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Subcellular Location
Cell junction

Domains

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DomainNameCategoryType
IPR002928 Myosin tailDomainDomain

Diseases

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Disease IDSourceNameDescription
139300 OMIMAromatase excess syndrome (AEXS)An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration inv(15)(q21.2;q21.3) has been found in patients with aromatase excess syndrome. The inversion moves the promoter of the CGNL1 gene into a 5-prime position in relation to the aromatase coding region.