CGNL1

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]

Description

Cingulin like 1

Tissue specificity

Tissue enhanced (kidney)

Subcell location

Nuclear bodies, Cell Junctions

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (57375967 - 57550717)

Ensembl ID

ENSG00000128849  (ver. 103.38)

Orthologs

Mouse Cgnl1: ENSMUSG00000032232

UniProt

Q0VF96

neXtProt

NX_Q0VF96

Human splice variants
Mouse splice variants

Protein structure