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CGNL1 cingulin like 1 [ Homo sapiens (human) ]

Gene ID: 84952, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (57376505..57550717)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (55179333..55353561)
105.20220307 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. Cgnl1, an endothelial junction complex protein, regulates GTPase mediated angiogenesis. Chrifi I, et al. Cardiovasc Res, 2017 Dec 1. PMID 29016873, Free PMC Article
  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. 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
  4. 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
  5. Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. Demura M, et al. Hum Mol Genet, 2007 Nov 1. PMID 17584767

See all (36) 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)

Genotypes

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_2023_10

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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