Seroatlas · Human Serome Atlas

CGNL1

Cingulin-like protein 1

Also known as: CGNL1_HUMAN, FLJ14957, JACOP, KIAA1749, PCING

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q0VF96
Gene: CGNL1
Ensembl: ENSG00000128849
Chromosome: 15
Canonical length: 1302 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Cell Junctions
Quaternary structure: Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1302 residues, UniProt reviewed canonical sequence.

>Q0VF96|CGNL1
     1  MELYFGEYQH VQQEYGVHLR LASDDTQKSR SSQNSKAGSY GVSIRVQGID GHPYIVLNNT
    61  ERCLAGTSFS ENGPPFPPPV INNLPLHSSN GSVPKENSEE LQLPENPYAQ PSPIRNLKQP
   121  LLHEGKNGVL DRKDGSVKPS HLLNFQRHPE LLQPYDPEKN ELNLQNHQPS ESNWLKTLTE
   181  EGINNKKPWT CFPKPSNSQP TSPSLEDPAK SGVTAIRLCS SVVIEDPKKQ TSVCVNVQSC
   241  TKERVGEEAL FTSGRPLTAH SPHAHPETKK TRPDVLPFRR QDSAGPVLDG ARSRRSSSSS
   301  TTPTSANSLY RFLLDDQECA IHADNVNRHE NRRYIPFLPG TGRDIDTGSI PGVDQLIEKF
   361  DQKPGLQRRG RSGKRNRINT DDRKRSRSVD SAFPFGLQGN SEYLIEFSRN LGKSSEHLLR
   421  PSQVCPQRPL SQERRGKQSV GRTFAKLQGA AHGASCAHSR PPQPNIDGKV LETEGSQEST
   481  VIRAPSLGAQ SKKEEEVKTA TATLMLQNRA TATSPDSGAK KISVKTFPSA SNTQATPDLL
   541  KGQQELTQQT NEETAKQILY NYLKEGSTDN DDATKRKVNL VFEKIQTLKS RAAGSAQGNN
   601  QACNSTSEVK DLLEQKSKLT IEVAELQRQL QLEVKNQQNI KEERERMRAN LEELRSQHNE
   661  KVEENSTLQQ RLEESEGELR KNLEELFQVK MEREQHQTEI RDLQDQLSEM HDELDSAKRS
   721  EDREKGALIE ELLQAKQDLQ DLLIAKEEQE DLLRKREREL TALKGALKEE VSSHDQEMDK
   781  LKEQYDAELQ ALRESVEEAT KNVEVLASRS NTSEQDQAGT EMRVKLLQEE NEKLQGRSEE
   841  LERRVAQLQR QIEDLKGDEA KAKETLKKYE GEIRQLEEAL VHARKEEKEA VSARRALENE
   901  LEAAQGNLSQ TTQEQKQLSE KLKEESEQKE QLRRLKNEME NERWHLGKTI EKLQKEMADI
   961  VEASRTSTLE LQNQLDEYKE KNRRELAEMQ RQLKEKTLEA EKSRLTAMKM QDEMRLMEEE
  1021  LRDYQRAQDE ALTKRQLLEQ TLKDLEYELE AKSHLKDDRS RLVKQMEDKV SQLEMELEEE
  1081  RNNSDLLSER ISRSREQMEQ LRNELLQERA ARQDLECDKI SLERQNKDLK SRIIHLEGSY
  1141  RSSKEGLVVQ MEARIAELED RLESEERDRA NLQLSNRRLE RKVKELVMQV DDEHLSLTDQ
  1201  KDQLSLRLKA MKRQVEEAEE EIDRLESSKK KLQRELEEQM DMNEHLQGQL NSMKKDLRLK
  1261  KLPSKVLDDM DDDDDLSTDG GSLYEAPVSY TFSKDSTVAS QI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CGNL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 64 nTPM

Expression across tissuesHPA

Tissue

kidney: 64 nTPM
liver: 34 nTPM
salivary gland: 30 nTPM
cervix: 30 nTPM
placenta: 27 nTPM
choroid plexus: 27 nTPM

Single-cell type

distal convoluted tubule cells: 974 nCPM
loop of henle epithelial cells: 964 nCPM
renal collecting duct intercalated cells: 655 nCPM
podocytes: 590 nCPM
proximal tubule cells: 512 nCPM
esophageal apical cells: 382 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 86 nTPM
thalamus: 49 nTPM
medulla oblongata: 46 nTPM
midbrain: 45 nTPM
pons: 44 nTPM
hypothalamus: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CGNL1.

Disease | AllUniProt

Conditions CGNL1 is implicated in, by any mechanism.

Aromatase excess syndrome (AEXS) MIM:139300

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.24
gnomAD pLI: 0
gnomAD missense Z: -2.01
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CGNL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CGNL1 as an antibody target. Whether an autoantibody or antibody against CGNL1 could matter depends on whether native CGNL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CGNL1 is annotated at the cell surface, where native CGNL1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CGNL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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