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Aliases for CGNL1 Gene

Aliases for CGNL1 Gene

  • Cingulin-Like 1 2 3
  • Junction-Associated Coiled-Coil Protein 3 4
  • Paracingulin 3 4
  • KIAA1749 4 6
  • JACOP 3 4
  • Cingulin-Like Protein 1 3
  • FLJ14957 6

External Ids for CGNL1 Gene

Summaries for CGNL1 Gene

Entrez Gene Summary for CGNL1 Gene

  • 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]

GeneCards Summary for CGNL1 Gene

CGNL1 (Cingulin-Like 1) is a Protein Coding gene. Diseases associated with CGNL1 include aromatase excess syndrome and estrogen excess. GO annotations related to this gene include motor activity. An important paralog of this gene is CGN.

UniProtKB/Swiss-Prot for CGNL1 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CGNL1 Gene

Genomics for CGNL1 Gene

Genomic Location for CGNL1 Gene

Start:
57,375,967 bp from pter
End:
57,550,727 bp from pter
Size:
174,761 bases
Orientation:
Plus strand

Genomic View for CGNL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CGNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CGNL1 Gene

Regulatory Elements for CGNL1 Gene

Proteins for CGNL1 Gene

  • Protein details for CGNL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VF96-CGNL1_HUMAN
    Recommended name:
    Cingulin-like protein 1
    Protein Accession:
    Q0VF96
    Secondary Accessions:
    • Q05BZ4
    • Q52LR0
    • Q695C7
    • Q7Z2L3
    • Q96JV2
    • Q96MN6
    • Q9C0B4

    Protein attributes for CGNL1 Gene

    Size:
    1302 amino acids
    Molecular mass:
    149079 Da
    Quaternary structure:
    • Homodimer or oligomer.
    SequenceCaution:
    • Sequence=AAH30995.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for CGNL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CGNL1 Gene

Proteomics data for CGNL1 Gene at MOPED

Post-translational modifications for CGNL1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys525 and Lys681

Other Protein References for CGNL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CGNL1 Gene

Domains for CGNL1 Gene

Protein Domains for CGNL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CGNL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q0VF96

UniProtKB/Swiss-Prot:

CGNL1_HUMAN
Domain:
  • The head region is responsible for junction-based distribution.:
    • Q0VF96
Family:
  • Belongs to the cingulin family.:
    • Q0VF96
genes like me logo Genes that share domains with CGNL1: view

No data available for Gene Families for CGNL1 Gene

Function for CGNL1 Gene

Molecular function for CGNL1 Gene

UniProtKB/Swiss-Prot Function: May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.

Gene Ontology (GO) - Molecular Function for CGNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
genes like me logo Genes that share ontologies with CGNL1: view

Phenotypes for CGNL1 Gene

GenomeRNAi human phenotypes for CGNL1:
genes like me logo Genes that share phenotypes with CGNL1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CGNL1 Gene

Localization for CGNL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CGNL1 Gene

Cell junction, tight junction. Note=Localizes to the apical junction complex composed of tight and adherens junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CGNL1 Gene COMPARTMENTS Subcellular localization image for CGNL1 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for CGNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005923 bicellular tight junction IEA --
GO:0015629 actin cytoskeleton --
GO:0016459 myosin complex IEA --
GO:0043296 apical junction complex --
genes like me logo Genes that share ontologies with CGNL1: view

Pathways for CGNL1 Gene

SuperPathways for CGNL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CGNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with CGNL1: view

No data available for Pathways by source for CGNL1 Gene

Transcripts for CGNL1 Gene

Unigene Clusters for CGNL1 Gene

Cingulin-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CGNL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1:
SP2:
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7: - - - -

ExUns: 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CGNL1 Gene

GeneLoc Exon Structure for
CGNL1
ECgene alternative splicing isoforms for
CGNL1

Expression for CGNL1 Gene

mRNA expression in normal human tissues for CGNL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CGNL1 Gene

This gene is overexpressed in Kidney - Cortex (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for CGNL1 Gene

SOURCE GeneReport for Unigene cluster for CGNL1 Gene Hs.148989

mRNA Expression by UniProt/SwissProt for CGNL1 Gene

Q0VF96-CGNL1_HUMAN
Tissue specificity: Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain.
genes like me logo Genes that share expressions with CGNL1: view

Orthologs for CGNL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CGNL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CGNL1 35
  • 99.41 (n)
  • 99.08 (a)
CGNL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CGNL1 35
  • 85.29 (n)
  • 86.92 (a)
CGNL1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CGNL1 35
  • 86.12 (n)
  • 88.33 (a)
CGNL1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cgnl1 35
  • 82 (n)
  • 82.87 (a)
Cgnl1 16
Cgnl1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CGNL1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cgnl1 35
  • 81.41 (n)
  • 82.34 (a)
chicken
(Gallus gallus)
Aves CGNL1 35
  • 66.38 (n)
  • 63.74 (a)
CGNL1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CGNL1 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7082 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cgnl1 35
  • 65.75 (n)
  • 64.74 (a)
Str.15211 35
zebrafish
(Danio rerio)
Actinopterygii cgnl1 35
  • 58.26 (n)
  • 53.38 (a)
cgnl1 36
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ASF2 38
Species with no ortholog for CGNL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CGNL1 Gene

ENSEMBL:
Gene Tree for CGNL1 (if available)
TreeFam:
Gene Tree for CGNL1 (if available)

Paralogs for CGNL1 Gene

Paralogs for CGNL1 Gene

Selected SIMAP similar genes for CGNL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CGNL1: view

Variants for CGNL1 Gene

Sequence variations from dbSNP and Humsavar for CGNL1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs2071 -- 57,521,931(-) CAATC(C/T)GTGAA intron-variant
rs2555 -- 57,437,546(-) CATTT(C/G)AGAAC intron-variant
rs8784 -- 57,550,264(+) GTGAC(C/T)TTGAC utr-variant-3-prime
rs11517 -- 57,550,469(+) TATGT(A/G)AAAAC utr-variant-3-prime
rs11856 -- 57,550,243(+) GTCCC(A/G)GCTCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CGNL1 Gene

Variant ID Type Subtype PubMed ID
nsv833021 CNV Gain 17160897
nsv7266 OTHER Inversion 18451855
esv2751536 CNV Gain 17911159
dgv2387n71 CNV Gain 21882294
nsv457166 CNV Gain 19166990
nsv516366 CNV Gain+Loss 19592680
nsv833022 CNV Gain 17160897
nsv904254 CNV Gain 21882294
esv2454508 CNV Deletion 19546169
nsv904255 CNV Loss 21882294

Relevant External Links for CGNL1 Gene

HapMap Linkage Disequilibrium report
CGNL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CGNL1 Gene

Disorders for CGNL1 Gene

UniProtKB/Swiss-Prot

CGNL1_HUMAN
  • 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:0000269 PubMed: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.

(1) University of Copenhagen DISEASES for CGNL1 Gene

Relevant External Links for CGNL1

Genetic Association Database (GAD)
CGNL1
genes like me logo Genes that share disorders with CGNL1: view

Publications for CGNL1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. Paracingulin regulates the activity of Rac1 and RhoA GTPases by recruiting Tiam1 and GEF-H1 to epithelial junctions. (PMID: 18653465) Guillemot L. … Citi S. (Mol. Biol. Cell 2008) 3 23
  3. Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. (PMID: 12736278) Shozu M. … Bulun S.E. (N. Engl. J. Med. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder. (PMID: 21305692) Belmonte Mahon P. … Zandi P.P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011) 3 48

Products for CGNL1 Gene

Sources for CGNL1 Gene

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