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This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]
CDH1 (Cadherin 1) is a Protein Coding gene. Diseases associated with CDH1 include Blepharocheilodontic Syndrome 1 and Gastric Cancer, Hereditary Diffuse. Among its related pathways are Endometrial cancer and Cell junction organization. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein phosphatase binding. An important paralog of this gene is CDH3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IBA,IEA | 21873635 |
GO:0005515 | protein binding | IPI | 11401320 |
GO:0008013 | beta-catenin binding | IDA | 17620337 |
GO:0008092 | cytoskeletal protein binding | IBA | 21873635 |
GO:0030506 | ankyrin binding | IPI | 17620337 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005768 | endosome | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005802 | trans-Golgi network | IMP | 17620337 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell junction organization | ||
2 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
3 | ERK Signaling |
Rho Family GTPases
.61
Molecular Mechanisms of Cancer
.51
|
ILK Signaling
.49
|
4 | Apoptotic cleavage of cellular proteins | ||
5 | Listeria monocytogenes entry into host cells |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IBA | 21873635 |
GO:0007043 | cell-cell junction assembly | IBA | 21873635 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IEA,NAS | 8033105 |
GO:0007416 | synapse assembly | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CDH1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CDH1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CDH1 32 |
|
||
E-CADHERIN 33 |
|
OneToOne | |||
rat (Rattus norvegicus) |
Mammalia | Cdh1 32 |
|
||
mouse (Mus musculus) |
Mammalia | Cdh1 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | CDH1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | CDH1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CDH1 33 32 |
|
ManyToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100485633 32 |
|
||
Str.3002 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7483 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cdh1 33 32 32 |
|
ManyToMany | |
si:ch211-206i14.2 33 |
|
ManyToMany | |||
si:dkey-173l11.5 33 |
|
ManyToMany | |||
si:dkey-30c15.12 33 |
|
ManyToMany | |||
si:dkey-173l11.3 33 |
|
ManyToMany |
SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1001200905 | uncertain-significance, Hereditary diffuse gastric cancer, not provided | 68,828,240(+) | C/T | coding_sequence_variant, missense_variant | |
rs1003012321 | uncertain-significance, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric cancer, Ectropion inferior cleft lip and or palate, Endometrial carcinoma, Familial cancer of breast, Malignant tumor of prostate, Neoplasm of ovary | 68,822,132(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs1005743424 | likely-benign, Hereditary cancer-predisposing syndrome, not specified | 68,738,428(+) | G/A/C/T | intron_variant | |
rs1017050648 | uncertain-significance, Hereditary diffuse gastric cancer | 68,811,744(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs1024244866 | likely-benign, not specified, Hereditary cancer-predisposing syndrome | 68,828,318(+) | A/G | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv847e212 | CNV | gain | 25503493 |
esv25425 | CNV | loss | 19812545 |
esv2661913 | CNV | deletion | 23128226 |
esv2714658 | CNV | deletion | 23290073 |
esv2761911 | CNV | loss | 21179565 |
esv29196 | CNV | gain | 19812545 |
esv3582281 | CNV | loss | 25503493 |
esv3638910 | CNV | loss | 21293372 |
esv3638911 | CNV | gain | 21293372 |
esv3638912 | CNV | gain | 21293372 |
esv3638913 | CNV | gain | 21293372 |
esv3638914 | CNV | gain | 21293372 |
esv3638915 | CNV | loss | 21293372 |
nsv103068 | CNV | deletion | 16902084 |
nsv457515 | CNV | gain | 19166990 |
nsv572908 | CNV | gain | 21841781 |
nsv572910 | CNV | loss | 21841781 |
nsv817735 | CNV | gain | 17921354 |
nsv833267 | CNV | gain | 17160897 |