2. Gene
  3. CGNL1 - cingulin like 1 Gene

CGNL1 - cingulin like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

CGNL1 Protein Structure

Myosin_tail_1

Myosin_tail_1: Myosin tail (1064 - 1256)

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  • 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 / 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