CGNL1 - cingulin like 1 Gene

Homo sapiens

Also known as JACOP; PCING

Gene ID: 84952 | Gene type: protein coding

About CGNL1

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:57,376,505-57,550,717 (from NCBI)

This gene has 3 transcripts (splice variants), 251 orthologues and 43 paralogues. Broad expression in kidney (RPKM 42.7), prostate (RPKM 13.0) and 15 other tissues.

Summary

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]

CGNL1 Products(2)

mRNA	Protein	Name
NM_001252335.2	NP_001239264.1	cingulin-like protein 1
NM_032866.5	NP_116255.2	cingulin-like protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20936779	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in actin filament organization	IMP IMP: Inferred from mutant phenotype	22891260	GOA
involved in negative regulation of small GTPase mediated signal transduction	IMP IMP: Inferred from mutant phenotype	22891260	GOA
involved in negative regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	25753039	GOA
involved in protein localization to cell-cell junction	IMP IMP: Inferred from mutant phenotype	25753039	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	25753039	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CGNL1 Protein Structure

Myosin_tail_1

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600
800
1000
1200
1302 a.a.

Protein Preferred Names

Protein Names

cingulin-like protein 1

junction-associated coiled-coil protein

Related Diseases

Diseases

Alias

Aromatase Excess Syndrome

AEXS	Increased Aromatase Activity
Familial Hyperestrogenism	Hereditary Prepubertal Gynecomastia
Aromatase Activity, Increased	Familial Gynecomastia Due To Increased Aromatase Activity
Hereditary Gynecomastia	Gynecomastia, Familial
Familial Gynecomastia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02586	CGNL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CGNL1	RGD	RGD:1304623
Macaca mulatta	CGNL1	VGNC	VGNC:71106
Mus musculus	CGNL1	MGD	MGI:1915428
Canis familiaris	CGNL1	VGNC	VGNC:39184
Felis catus	CGNL1	VGNC	VGNC:60831
Bos taurus	CGNL1	VGNC	VGNC:27259

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