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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 Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Preimplantation Embryo. 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 | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 11401320 |
GO:0008013 | beta-catenin binding | IDA | 17620337 |
GO:0008092 | cytoskeletal protein binding | IBA | -- |
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 | Apoptotic execution phase |
.31
|
|
2 | Cell junction organization | ||
3 | ERK Signaling |
Rho Family GTPases
.61
Molecular Mechanisms of Cancer
.51
|
ILK Signaling
.49
|
4 | Listeria monocytogenes entry into host cells | ||
5 | Bladder cancer |
.66
|
.66
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IBA | -- |
GO:0007043 | cell-cell junction assembly | IBA | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IEA,NAS | 8033105 |
GO:0007275 | multicellular organism development | IBA | -- |
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 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CDH1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CDH1 30 |
|
||
E-CADHERIN 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Cdh1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cdh1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CDH1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CDH1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CDH1 30 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485633 30 |
|
||
Str.3002 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7483 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cdh1 30 31 |
|
ManyToMany | |
si:ch211-206i14.2 31 |
|
ManyToMany | |||
si:dkey-173l11.5 31 |
|
ManyToMany | |||
si:dkey-30c15.12 31 |
|
ManyToMany | |||
si:dkey-173l11.3 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
12248 | Pathogenic: Gastric cancer, familial diffuse, and cleft lip with or without cleft palate | 68,808,569(+) | T/A | SPLICE_DONOR_VARIANT | |
220300 | Uncertain Significance: Hereditary diffuse gastric cancer; Hereditary cancer-predisposing syndrome | 68,823,538(+) | TG/CA | MISSENSE_VARIANT | |
489853 | Uncertain Significance: Hereditary diffuse gastric cancer; Hereditary cancer-predisposing syndrome | 68,823,601(+) | TC/GA | MISSENSE_VARIANT | |
628358 | Uncertain Significance: Hereditary cancer-predisposing syndrome | 68,737,444(+) | CGCTGCTGCT/C | INFRAME_DELETION,FIVE_PRIME_UTR_VARIANT | |
629435 | Pathogenic: Hereditary cancer-predisposing syndrome | 68,815,584(+) | GTC/G | FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
blepharocheilodontic syndrome 1 |
|
|
gastric cancer, hereditary diffuse |
|
|
ovarian cancer |
|
|
endometrial cancer |
|
|
prostate cancer |
|