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CGNL1 (cingulin like 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84952
Gene nameGene Name - the full gene name approved by the HGNC.
Cingulin like 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CGNL1
SynonymsGene synonyms aliases
JACOP, PCING
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
SummarySummary of gene provided in NCBI Entrez 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 chro
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs483352760 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018735 hsa-miR-335-5p Microarray 18185580
MIRT024620 hsa-miR-215-5p Microarray 19074876
MIRT026805 hsa-miR-192-5p Microarray 19074876
MIRT045751 hsa-miR-125a-5p CLASH 23622248
MIRT038313 hsa-miR-130b-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003774 Function Motor activity IEA
GO:0005515 Function Protein binding IPI 22891260, 25753039
GO:0005923 Component Bicellular tight junction IEA
GO:0007015 Process Actin filament organization IMP 22891260
GO:0016459 Component Myosin complex IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q0VF96
Protein name Cingulin-like protein 1 (Junction-associated coiled-coil protein) (Paracingulin)
Protein function May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01576 Myosin_tail_1
576 1042
Myosin tail
Coiled-coil
PF01576 Myosin_tail_1
1015 1257
Myosin tail
Coiled-coil
Sequence
MELYFGEYQHVQQEYGVHLRLASDDTQKSRSSQNSKAGSYGVSIRVQGIDGHPYIVLNNT
ERCLAGTSFSENGPPFPPPVINNLPLHSSNGSVPKENSEELQLPENPYAQPSPIRNLKQP
LLHEGKNGVLDRKDGSVKPSHLLNFQRHPELLQPYDPEKNELNLQNHQPSESNWLKTLTE
EGINNKKPWTCFPKPSNSQPTSPSLEDPAKSGVTAIRLCSSVVIEDPKKQTSVCVNVQSC
TKERVGEEALFTSGRPLTAHSPHAHPETKKTRPDVLPFRRQDSAGPVLDGARSRRSSSSS
TTPTSANSLYRFLLDDQECAIHADNVNRHENRRYIPFLPGTGRDIDTGSIPGVDQLIEKF
DQKPGLQRRGRSGKRNRINTDDRKRSRSVDSAFPFGLQGNSEYLIEFSRNLGKSSEHLLR
PSQVCPQRPLSQERRGKQSVGRTFAKLQGAAHGASCAHSRPPQPNIDGKVLETEGSQEST
VIRAPSLGAQSKKEEEVKTATATLMLQNRATATSPDSGAKKISVKTFPSASNTQATPDLL
KGQQELTQQTNEETAKQILYNYLKEGSTDNDDATKRKVNLVFEKIQTLKSRAAGSAQGNN
QACNSTSEVKDLLEQKSKLTIEVAELQRQLQLEVKNQQNIKEERERMRANLEELRSQHNE
KVEENSTLQQRLEESEGELRKNLEELFQVKMEREQHQTEIRDLQDQLSEMHDELDSAKRS
EDREKGALIEELLQAKQDLQDLLIAKEEQEDLLRKRERELTALKGALKEEVSSHDQEMDK
LKEQYDAELQALRESVEEATKNVEVLASRSNTSEQDQAGTEMRVKLLQEENEKLQGRSEE
LERRVAQLQRQIEDLKGDEAKAKETLKKYEGEIRQLEEALVHARKEEKEAVSARRALENE
LEAAQGNLSQTTQEQKQLSEKLKEESEQKEQLRRLKNEMENERWHLGKTIEKLQKEMADI
VEASRTSTLELQNQLDEYKEKNRRELAEMQRQLKEKTLEAEKSRLTAMKMQDEM
RLMEEE
LRDYQRAQDEALTKRQLLEQTL
KDLEYELEAKSHLKDDRSRLVKQMEDKVSQLEMELEEE
RNNSDLLSERISRSREQMEQLRNELLQERAARQDLECDKISLERQNKDLKSRIIHLEGSY
RSSKEGLVVQMEARIAELEDRLESEERDRANLQLSNRRLERKVKELVMQVDDEHLSLTDQ
KDQLSLRLKAMKRQVEEAEEEIDRLESSKKKLQRELEEQMDMNEHLQGQLNSMKKDL
RLK
KLPSKVLDDMDDDDDLSTDGGSLYEAPVSYTFSKDSTVASQI
Sequence length 1302
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Tight junction  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 24163246
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 21305692

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