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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]
CGNL1 (Cingulin Like 1) is a Protein Coding gene. Diseases associated with CGNL1 include Aromatase Excess Syndrome and Estrogen Excess. Among its related pathways are Tight junction. Gene Ontology (GO) annotations related to this gene include motor activity. An important paralog of this gene is CGN.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003774 | motor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 22891260 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005923 | bicellular tight junction | IEA | -- |
GO:0016459 | myosin complex | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO:0032991 | protein-containing complex | IDA | 25753039 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tight junction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007015 | actin filament organization | IMP | 22891260 |
GO:0051058 | negative regulation of small GTPase mediated signal transduction | IMP | 22891260 |
GO:0051497 | negative regulation of stress fiber assembly | IMP | 25753039 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - |
ExUns: | 23 | ^ | 24 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CGNL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CGNL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CGNL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cgnl1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cgnl1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CGNL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | CGNL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CGNL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cgnl1 30 |
|
||
Str.15211 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7082 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cgnl1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ASF2 33 |
|
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
726907 | Likely Benign: not provided | 57,518,428(+) | C/T | SYNONYMOUS_VARIANT | |
735974 | Likely Benign: not provided | 57,439,317(+) | G/T | MISSENSE_VARIANT | |
735975 | Likely Benign: not provided | 57,544,499(+) | C/T | SYNONYMOUS_VARIANT | |
783056 | Benign: not provided | 57,523,584(+) | C/T | SYNONYMOUS_VARIANT | |
783057 | Benign: not provided | 57,544,562(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2607n100 | CNV | gain | 25217958 |
dgv4556n54 | CNV | gain | 21841781 |
esv2454508 | CNV | deletion | 19546169 |
esv2751536 | CNV | gain | 17911159 |
esv2761873 | CNV | gain | 21179565 |
esv2763103 | CNV | loss | 21179565 |
esv3636608 | CNV | gain | 21293372 |
esv3636609 | CNV | gain | 21293372 |
nsv1045611 | CNV | gain | 25217958 |
nsv1054547 | CNV | gain | 25217958 |
nsv1116074 | CNV | deletion | 24896259 |
nsv457166 | CNV | gain | 19166990 |
nsv516366 | CNV | gain+loss | 19592680 |
nsv569590 | CNV | loss | 21841781 |
nsv569591 | CNV | loss | 21841781 |
nsv569592 | CNV | gain | 21841781 |
nsv7266 | OTHER | inversion | 18451855 |
nsv833021 | CNV | gain | 17160897 |
nsv833022 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aromatase excess syndrome |
|
|
estrogen excess |
|
|