cingulin-like protein 1; junction-associated coiled-coil protein; paracingulin (CGNL1, JACOP, KIAA1749)

Function

• may be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons

Structure

• homodimer or oligomer (putative)
• head region is responsible for junction-based distribution (putative)
• belongs to the cingulin family

Compartment

• cell junction, tight junction
• localizes to the apical junction complex composed of tight junctions & adherens junctions (putative)

Alternative splicing

named isoforms=2

Expression

• mooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus & subthalamic nucleus of adult brain

Pathology

• chromosomal inv(15)(q21.2;q21.3) involving CGNL1 is a cause of aromatase excess syndrome

More general terms

• phosphoprotein
• human longevity protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=84952
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:84952
• OMIM: https://mirror.omim.org/entry/139300
• OMIM: https://mirror.omim.org/entry/607856
• UniProt: http://www.uniprot.org/uniprot/Q0VF96.html