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Aliases for CGNL1 Gene

Aliases for CGNL1 Gene

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

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 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

Regulatory Elements for CGNL1 Gene

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

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

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

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.

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for CGNL1 Gene

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for CGNL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CGNL1 Gene:

CGNL1

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 34
  • 85.29 (n)
  • 86.92 (a)
CGNL1 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CGNL1 34
  • 86.12 (n)
  • 88.33 (a)
CGNL1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cgnl1 34
  • 82 (n)
  • 82.87 (a)
Cgnl1 16
Cgnl1 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CGNL1 34
  • 99.41 (n)
  • 99.08 (a)
CGNL1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cgnl1 34
  • 81.41 (n)
  • 82.34 (a)
oppossum
(Monodelphis domestica)
Mammalia CGNL1 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 60 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves CGNL1 34
  • 66.38 (n)
  • 63.74 (a)
CGNL1 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CGNL1 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cgnl1 34
  • 65.75 (n)
  • 64.74 (a)
Str.15211 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7082 34
zebrafish
(Danio rerio)
Actinopterygii cgnl1 34
  • 58.26 (n)
  • 53.38 (a)
cgnl1 35
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ASF2 37
Species where no ortholog for CGNL1 was found in the sources mined by GeneCards:
  • 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
dgv2607n100 CNV gain 25217958
dgv4556n54 CNV gain 21841781
esv2454508 CNV deletion 19546169
esv2751536 CNV gain 17911159
esv2761873 CNV gain 21179565
esv2763103 CNV loss 21179565
esv3636608 CNV gain 21293372
esv3636609 CNV gain 21293372
nsv1045611 CNV gain 25217958
nsv1054547 CNV gain 25217958
nsv1116074 CNV deletion 24896259
nsv457166 CNV gain 19166990
nsv516366 CNV gain+loss 19592680
nsv569590 CNV loss 21841781
nsv569591 CNV loss 21841781
nsv569592 CNV gain 21841781
nsv7266 OTHER inversion 18451855
nsv833021 CNV gain 17160897
nsv833022 CNV gain 17160897

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)

Relevant External Links for CGNL1 Gene

Human Gene Mutation Database (HGMD)
CGNL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CGNL1

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

Disorders for CGNL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
aromatase excess syndrome
  • familial hyperestrogenism
estrogen excess
  • hyperestrogenism
- 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 65
  2. Distinct domains of paracingulin are involved in its targeting to the actin cytoskeleton and regulation of apical junction assembly. (PMID: 22315225) Paschoud S. … Citi S. (J. Biol. Chem. 2012) 2 3 65
  3. 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 46 65
  4. 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 22 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for CGNL1 Gene

Sources for CGNL1 Gene

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