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Aliases for CGNL1 Gene

Aliases for CGNL1 Gene

  • Cingulin-Like 1 2 3 5
  • Junction-Associated Coiled-Coil Protein 3 4
  • Paracingulin 3 4
  • JACOP 3 4
  • KIAA1749 4

External Ids for CGNL1 Gene

Previous GeneCards Identifiers for CGNL1 Gene

  • GC15P055456
  • GC15P057668
  • GC15P034553

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. 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

Regulatory Elements for CGNL1 Gene

Enhancers for CGNL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CGNL1 on UCSC Golden Path with GeneCards custom track

Promoters for CGNL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CGNL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CGNL1 Gene

Chromosome:
15
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

Genes around CGNL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CGNL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CGNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 525 and Lys 681
  • Modification sites at PhosphoSitePlus

Other Protein References for CGNL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CGNL1 Gene

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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
cytoskeleton 4
nucleus 4
cytosol 3
golgi apparatus 2

No data available for Gene Ontology (GO) - Cellular Components for CGNL1 Gene

Pathways & Interactions for CGNL1 Gene

SuperPathways for CGNL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CGNL1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CGNL1 Gene

Drugs & Compounds for CGNL1 Gene

No Compound Related Data Available

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 differential expression in normal tissues according to GTEx for CGNL1 Gene

This gene is overexpressed in Kidney - Cortex (x5.2).

Protein differential expression in normal tissues from HIPED for CGNL1 Gene

This gene is overexpressed in Cervix (13.2), Adrenal (12.8), and Placenta (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with CGNL1: view

Primer Products

No data available for Protein tissue co-expression partners for CGNL1 Gene

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
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
chimpanzee
(Pan troglodytes)
Mammalia CGNL1 35
  • 99.41 (n)
  • 99.08 (a)
CGNL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cgnl1 35
  • 81.41 (n)
  • 82.34 (a)
oppossum
(Monodelphis domestica)
Mammalia CGNL1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
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
tropical clawed frog
(Silurana tropicalis)
Amphibia cgnl1 35
  • 65.75 (n)
  • 64.74 (a)
Str.15211 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7082 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

(1) 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
rs1280395 - 57,439,137(+) TTAAT(A/C)CAGAT reference, missense
rs7182648 - 57,439,375(+) CCACT(A/C/T)CAGGC reference, missense
rs1280396 - 57,439,530(-) TGCTG(C/T)TGCCC reference, missense
rs1620402 - 57,543,705(+) AGCAG(A/G/T)TGAGG reference, missense
rs16977594 - 57,547,389(+) ATGAC(A/G)TGGAT reference, missense

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

Variation tolerance for CGNL1 Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.93; 93.59% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CGNL1 Gene

Disorders for CGNL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CGNL1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
aromatase excess syndrome
  • aexs
- elite association - COSMIC cancer census association via MalaCards
Search CGNL1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CGNL1

Genetic Association Database (GAD)
CGNL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CGNL1
genes like me logo Genes that share disorders with CGNL1: view

No data available for Genatlas for CGNL1 Gene

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 67
  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. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. (PMID: 24163246) Rees E. … Kirov G. (Hum. Mol. Genet. 2014) 3
  4. MgcRacGAP interacts with cingulin and paracingulin to regulate Rac1 activation and development of the tight junction barrier during epithelial junction assembly. (PMID: 24807907) Guillemot L. … Citi S. (Mol. Biol. Cell 2014) 3
  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

Products for CGNL1 Gene

Sources for CGNL1 Gene

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