Format

Send to:

Choose Destination

CGNL1 cingulin like 1 [ Homo sapiens (human) ]

Gene ID: 84952, updated on 1-Jun-2020

Summary

Official Symbol
CGNL1provided by HGNC
Official Full Name
cingulin like 1provided by HGNC
Primary source
HGNC:HGNC:25931
See related
Ensembl:ENSG00000128849 MIM:607856
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

Genomic context

See CGNL1 in Genome Data Viewer
Location:
15q21.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (57376458..57550723)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57668703..57842925)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1413 Neighboring gene NADH:ubiquinone oxidoreductase subunit B10 pseudogene 1 Neighboring gene RNA, U6 small nuclear 844, pseudogene Neighboring gene 2-iminobutanoate/2-iminopropanoate deaminase pseudogene Neighboring gene ribosomal protein S13 pseudogene 7 Neighboring gene myocardial zonula adherens protein Neighboring gene GRINL1A complex locus 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14957, KIAA1749, MGC138254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
motor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of small GTPase mediated signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
myosin complex IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001252335.2NP_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
    Q0VF96
    Conserved Domains (4) summary
    pfam00261
    Location:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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_032866.5NP_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
    Q0VF96
    Related
    ENSP00000281282.5, ENST00000281282.5
    Conserved Domains (4) summary
    pfam00261
    Location:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    57376458..57550723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254726.4XP_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:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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. XM_011522120.1XP_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:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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; ...
  3. XM_011522121.2XP_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:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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_005254727.5XP_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:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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; ...
  5. XM_017022685.1XP_016878174.1  cingulin-like protein 1 isoform X1

    Conserved Domains (4) summary
    pfam00261
    Location:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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; ...
  6. XM_017022686.1XP_016878175.1  cingulin-like protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q0VF96
    Conserved Domains (4) summary
    pfam00261
    Location:8431089
    Tropomyosin; Tropomyosin
    pfam09728
    Location:608943
    Taxilin; Myosin-like coiled-coil protein
    pfam13863
    Location:839924
    DUF4200; Domain of unknown function (DUF4200)
    cl02488
    Location:694856
    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; ...
Support Center