This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]
Function:
May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.
Subcellular Location:
Cell junction > tight junction. Localizes to the apical junction complex composed of tight and adherens junctions.
Tissue Specificity:
Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain.
DISEASE:
A chromosomal aberration involving CGNL1 is a cause of aromatase excess syndrome [MIM:139300]. This is characterized by an estrogen excess due to an increased aromatase activity. An inversion on inv(15)(q21.2;q21.3) moves the promoter of the CGNL1 gene into a 5-prime position in relation to the aromatase coding region.
Similarity:
Belongs to the cingulin family.
SWISS:
Q0VF96
Gene ID:
84952
Database links:
Entrez Gene: 84952 Human
Omim: 607856 Human
SwissProt: Q0VF96 Human
Unigene: 148989 Human
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