CGNL1 - cingulin like 1 Gene

Also Known as JACOP; PCING

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84952

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20936779 GOA
Biological Process GO Annotation Evidence References 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 References 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

Myosin_tail_1: Myosin tail (1064 - 1256)

  • 0
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  • 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

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 Set / 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
Others CGNL1 NCBI