Version 5.4
Homo sapiens Protein: CGNL1
Summary
InnateDB Protein IDBP-13707.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CGNL1
Protein Name cingulin-like 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000281282
InnateDB Gene IDBG-13705 (CGNL1)
Protein Structure
UniProt Annotation
Function May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons. {ECO:0000250}.
Subcellular Localization Cell junction, tight junction {ECO:0000250}. Note=Localizes to the apical junction complex composed of tight and adherens junctions. {ECO:0000250}.
Disease Associations Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. {ECO:0000269PubMed:12736278}. Note=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.
Tissue Specificity Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain. {ECO:0000269PubMed:11214970}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003774 motor activity
Biological Process
GO:0008152 metabolic process
Cellular Component
GO:0005923 tight junction
GO:0015629 actin cytoskeleton
GO:0016459 myosin complex
GO:0043296 apical junction complex
Protein Structure and Domains
PDB ID
InterPro IPR000533 Tropomyosin
IPR002928 Myosin tail
PFAM PF00261
PF12718
PF01576
PRINTS PR00194
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q0VF96
PhosphoSite PhosphoSite-Q0VF96
TrEMBL
UniProt Splice Variant
Entrez Gene 84952
UniGene Hs.596241
RefSeq NP_116255
HUGO HGNC:25931
OMIM 607856
CCDS CCDS10161
HPRD 09708
IMGT
EMBL AB051536 AK027863 AK056673 AY274808 AY610514 BC030995 BC093827 BC112049 BC118918 CH471082
GenPept AAH30995 AAH93827 AAI12050 AAI18919 AAP42073 AAT37906 BAB21840 BAB55415 BAB71249 EAW77521

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca