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    CGNL1 cingulin like 1 [ Homo sapiens (human) ]

    Gene ID: 84952, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CGNL1provided by HGNC
    Official Full Name
    cingulin like 1provided by HGNC
    Primary source
    HGNC:HGNC:25931
    See related
    Ensembl:ENSG00000128849 MIM:607856; AllianceGenome:HGNC:25931
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JACOP; PCING
    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]
    Expression
    Broad expression in kidney (RPKM 42.7), prostate (RPKM 13.0) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CGNL1 in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (57376505..57550717)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (55179333..55353561)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57668703..57842915)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57615704-57616211 Neighboring gene long intergenic non-protein coding RNA 1413 Neighboring gene NADH:ubiquinone oxidoreductase subunit B10 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:57647689-57648410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57663634-57664134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:57679772-57680356 Neighboring gene RNA, U6 small nuclear 844, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:57719640-57720216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:57720308-57720808 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:57725388-57725888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57767361-57767860 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:57777650-57778849 Neighboring gene 2-iminobutanoate/2-iminopropanoate deaminase-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57788782-57789624 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:57819488-57820071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57838138-57838766 Neighboring gene Sharpr-MPRA regulatory region 1731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:57846311-57846886 Neighboring gene ribosomal protein S13 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:57896294-57896868 Neighboring gene myocardial zonula adherens protein Neighboring gene GCOM1, MYZAP-POLR2M combined locus Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6474 Neighboring gene uncharacterized LOC124903589

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. Shozu M, et al. N Engl J Med, 2003 May 8. PMID 12736278
    2. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Rees E, et al. Hum Mol Genet, 2014 Mar 15. PMID 24163246, Free PMC Article
    3. Cgnl1, an endothelial junction complex protein, regulates GTPase mediated angiogenesis. Chrifi I, et al. Cardiovasc Res, 2017 Dec 1. PMID 29016873, Free PMC Article
    4. Distinct domains of paracingulin are involved in its targeting to the actin cytoskeleton and regulation of apical junction assembly. Paschoud S, et al. J Biol Chem, 2012 Apr 13. PMID 22315225, Free PMC Article
    5. Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder. Belmonte Mahon P, et al. Am J Med Genet B Neuropsychiatr Genet, 2011 Apr. PMID 21305692, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. demonstrate in a postnatal retinal vascular development model in mice that Cgnl1 function is crucial for sustaining neovascular growth and stability
      Title: Cgnl1, an endothelial junction complex protein, regulates GTPase mediated angiogenesis.
    2. MgcRacGAP colocalizes with CGN and CGNL1 at TJs and forms a complex and interacts directly in vitro with CGN and CGNL1.
      Title: MgcRacGAP interacts with cingulin and paracingulin to regulate Rac1 activation and development of the tight junction barrier during epithelial junction assembly.
    3. Results indentify plausible candidates include non-recurrent deletions at the glutamate transporter gene SLC1A1, a CNV locus recently suggested to be involved in schizophrenia through linkage analysis, and duplications at 1p36.33 and CGNL1.
      Title: CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.
    4. ZO-1 and PLEKHA7 are paracingulin-interacting proteins that are involved in its recruitment to epithelial tight and adherens junctions, respectively
      Title: A role for ZO-1 and PLEKHA7 in recruiting paracingulin to tight and adherens junctions of epithelial cells.
    5. Paracingulin regulates the activity of Rac1 and RhoA GTPases by recruiting Tiam1 and GEF-H1 to epithelial junctions
      Title: Paracingulin regulates the activity of Rac1 and RhoA GTPases by recruiting Tiam1 and GEF-H1 to epithelial junctions.
    6. This paper studied the mouse JACOP protein and found that the JACOP protein has structural and functional similarities to cingulin.
      Title: JACOP, a novel plaque protein localizing at the apical junctional complex with sequence similarity to cingulin.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14957, KIAA1749, MGC138254

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of small GTPase mediated signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cell-cell junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cingulin-like protein 1
    Names
    junction-associated coiled-coil protein
    paracingulin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030584.2 RefSeqGene

      Range
      5001..179213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252335.2 → NP_001239264.1  cingulin-like protein 1

      See identical proteins and their annotated locations for NP_001239264.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA661765, AC016525, AY274808, AY610514, DA272287
      Consensus CDS
      CCDS10161.1
      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4
      Conserved Domains (4) summary
      pfam00261
      Location:843 → 1089
      Tropomyosin; Tropomyosin
      pfam09728
      Location:608 → 943
      Taxilin; Myosin-like coiled-coil protein
      pfam13863
      Location:839 → 924
      DUF4200; Domain of unknown function (DUF4200)
      cl02488
      Location:694 → 856
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    2. NM_032866.5 → NP_116255.2  cingulin-like protein 1

      See identical proteins and their annotated locations for NP_116255.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA661765, AY274808, DC415862
      Consensus CDS
      CCDS10161.1
      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4
      Related
      ENSP00000281282.5, ENST00000281282.6
      Conserved Domains (4) summary
      pfam00261
      Location:843 → 1089
      Tropomyosin; Tropomyosin
      pfam09728
      Location:608 → 943
      Taxilin; Myosin-like coiled-coil protein
      pfam13863
      Location:839 → 924
      DUF4200; Domain of unknown function (DUF4200)
      cl02488
      Location:694 → 856
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      57376505..57550717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433184.1 → XP_047289140.1  cingulin-like protein 1 isoform X1

    2. XM_047433186.1 → XP_047289142.1  cingulin-like protein 1 isoform X1

    3. XM_011522121.3 → XP_011520423.1  cingulin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011520423.1

      Conserved Domains (4) summary
      pfam00261
      Location:843 → 1089
      Tropomyosin; Tropomyosin
      pfam09728
      Location:608 → 943
      Taxilin; Myosin-like coiled-coil protein
      pfam13863
      Location:839 → 924
      DUF4200; Domain of unknown function (DUF4200)
      cl02488
      Location:694 → 856
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    4. XM_047433185.1 → XP_047289141.1  cingulin-like protein 1 isoform X1

    5. XM_047433182.1 → XP_047289138.1  cingulin-like protein 1 isoform X1

    6. XM_047433187.1 → XP_047289143.1  cingulin-like protein 1 isoform X1

    7. XM_047433180.1 → XP_047289136.1  cingulin-like protein 1 isoform X1

    8. XM_047433190.1 → XP_047289146.1  cingulin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4

    9. XM_011522120.2 → XP_011520422.1  cingulin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011520422.1

      Conserved Domains (4) summary
      pfam00261
      Location:843 → 1089
      Tropomyosin; Tropomyosin
      pfam09728
      Location:608 → 943
      Taxilin; Myosin-like coiled-coil protein
      pfam13863
      Location:839 → 924
      DUF4200; Domain of unknown function (DUF4200)
      cl02488
      Location:694 → 856
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    10. XM_047433188.1 → XP_047289144.1  cingulin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4

    11. XM_047433178.1 → XP_047289134.1  cingulin-like protein 1 isoform X1

    12. XM_005254726.5 → XP_005254783.1  cingulin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005254783.1

      Conserved Domains (4) summary
      pfam00261
      Location:843 → 1089
      Tropomyosin; Tropomyosin
      pfam09728
      Location:608 → 943
      Taxilin; Myosin-like coiled-coil protein
      pfam13863
      Location:839 → 924
      DUF4200; Domain of unknown function (DUF4200)
      cl02488
      Location:694 → 856
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    13. XM_047433181.1 → XP_047289137.1  cingulin-like protein 1 isoform X1

    14. XM_005254727.6 → XP_005254784.1  cingulin-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005254784.1

      Conserved Domains (4) summary
      pfam00261
      Location:843 → 1089
      Tropomyosin; Tropomyosin
      pfam09728
      Location:608 → 943
      Taxilin; Myosin-like coiled-coil protein
      pfam13863
      Location:839 → 924
      DUF4200; Domain of unknown function (DUF4200)
      cl02488
      Location:694 → 856
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    15. XM_047433191.1 → XP_047289147.1  cingulin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4

    16. XM_047433183.1 → XP_047289139.1  cingulin-like protein 1 isoform X1

    17. XM_047433189.1 → XP_047289145.1  cingulin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4

    18. XM_017022686.2 → XP_016878175.1  cingulin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4
      Conserved Domains (4) summary
      pfam00261
      Location:843 → 1089
      Tropomyosin; Tropomyosin
      pfam09728
      Location:608 → 943
      Taxilin; Myosin-like coiled-coil protein
      pfam13863
      Location:839 → 924
      DUF4200; Domain of unknown function (DUF4200)
      cl02488
      Location:694 → 856
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    19. XM_047433179.1 → XP_047289135.1  cingulin-like protein 1 isoform X1

    20. XM_047433192.1 → XP_047289148.1  cingulin-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q05BZ4, Q0VF96, Q52LR0, Q695C7, Q7Z2L3, Q96JV2, Q96MN6, Q9C0B4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      55179333..55353561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379020.1 → XP_054234995.1  cingulin-like protein 1 isoform X1

    2. XM_054379018.1 → XP_054234993.1  cingulin-like protein 1 isoform X1

    3. XM_054379021.1 → XP_054234996.1  cingulin-like protein 1 isoform X1

    4. XM_054379016.1 → XP_054234991.1  cingulin-like protein 1 isoform X1

    5. XM_054379011.1 → XP_054234986.1  cingulin-like protein 1 isoform X1

    6. XM_054379014.1 → XP_054234989.1  cingulin-like protein 1 isoform X1

    7. XM_054379012.1 → XP_054234987.1  cingulin-like protein 1 isoform X1

    8. XM_054379025.1 → XP_054235000.1  cingulin-like protein 1 isoform X2

    9. XM_054379023.1 → XP_054234998.1  cingulin-like protein 1 isoform X2

    10. XM_054379022.1 → XP_054234997.1  cingulin-like protein 1 isoform X1

    11. XM_054379017.1 → XP_054234992.1  cingulin-like protein 1 isoform X1

    12. XM_054379013.1 → XP_054234988.1  cingulin-like protein 1 isoform X1

    13. XM_054379010.1 → XP_054234985.1  cingulin-like protein 1 isoform X1

    14. XM_054379027.1 → XP_054235002.1  cingulin-like protein 1 isoform X2

    15. XM_054379019.1 → XP_054234994.1  cingulin-like protein 1 isoform X1

    16. XM_054379024.1 → XP_054234999.1  cingulin-like protein 1 isoform X2

    17. XM_054379026.1 → XP_054235001.1  cingulin-like protein 1 isoform X2

    18. XM_054379015.1 → XP_054234990.1  cingulin-like protein 1 isoform X1

    19. XM_054379028.1 → XP_054235003.1  cingulin-like protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VF96.2 GenPept UniProtKB/Swiss-Prot:Q0VF96

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