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CDH1 cadherin 1, type 1, E-cadherin (epithelial) [ Homo sapiens (human) ]

Gene ID: 999, updated on 14-May-2013

Summary

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Official Symbol: CDH1provided by HGNC
Official Full Name: cadherin 1, type 1, E-cadherin (epithelial)provided by HGNC
Primary source: HGNC:1748
See related: Ensembl:ENSG00000039068; HPRD:01885; MIM:192090; Vega:OTTHUMG00000137561
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UVO; CDHE; ECAD; LCAM; Arc-1; CD324
Summary: This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein 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 is thought to contribute to progression in cancer 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. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 16q22.1

Sequence :: Chromosome: 16; NC_000016.9 (68771195..68869444)

See CDH1 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

these results suggest that E-cadherin expression in cancer cells is controlled by a balance between ZEB2 and KLF4 expression levels.
Title: Interplay between KLF4 and ZEB2/SIP1 in the regulation of E-cadherin expression.
CDH1 gene promoter methylation may lead to aberrant expression of E-cadherin and beta-catenin in colonic carcinoma, and may play an important role in promoting tumor invasion.
Title: [Effects of CDH1 gene promoter methylation on expression of E-cadherin and beta-catenin and its clinicopathological significance in colon carcinoma].
Results show a role for E- and P-cadherin co-expression in breast cancer progression and highlight the potential benefit of targeting P-cadherin in the aggressive tumours expressing high levels of this protein.
Title: P-cadherin functional role is dependent on E-cadherin cellular context: a proof of concept using the breast cancer model.
E-cadherin and alpha-catenin down-regulation might be associated with neoplastic transformation in laryngeal tissues and might be regarded as a risk factor for clinical recurrence.
Title: Expression of E-cadherin and α-catenin in T1 N0 laryngeal cancer.
The capacity of TFF1 to enhance prostate cancer cell migration/invasion is mediated by transcriptional repression of E-CADHERIN.
Title: Trefoil factor 1 suppression of E-CADHERIN enhances prostate carcinoma cell invasiveness and metastasis.
Snail interacted with Suv39H1 and recruited it to the E-cadherin promoter for transcriptional repression.
Title: Interaction with Suv39H1 is critical for Snail-mediated E-cadherin repression in breast cancer.
Loss of SARI expression initiates epithelial-to-mesenchymal transition (EMT), which is visualized by repression of E-cadherin and up-regulation of vimentin in lung adenocarcinoma cell lines and in clinical lung adenocarcinoma specimens.
Title: The function of SARI in modulating epithelial-mesenchymal transition and lung adenocarcinoma metastasis.
Recruitment of histone deacetylases by transcriptional repressors LEF-1 and Slug is responsible for E-cadherin suppression and epithelial-to-mesenchymal transition in cigarette smokers.
Title: Smoking induces epithelial-to-mesenchymal transition in non-small cell lung cancer through HDAC-mediated downregulation of E-cadherin.
the loss of CDH1/E2F4 may be associated with worse clinical and pathological findings in mammary ductal carcinoma.
Title: Covariation of copy number located at 16q22.1: new evidence in mammary ductal carcinoma.
Data suggest that pulmonary metastasis is corrected with levels of Geminin, cleaved caspase-3, CD44, E-cadherin, epidermal growth factor receptor, and CD204 in cancer cells within permeated lymphatic vessels.
Title: Morphophenotypic characteristics of intralymphatic cancer and stromal cells susceptible to lymphogenic metastasis.

Submit: New GeneRIF Correction See all (926)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A germline mutation in BRCA1 or BRCA2 predisposes to breast and ovarian cancer as well as other cancers. The risk of developing cancer that is associated with a germline BRCA1 or BRCA2 mutation, which has been derived from families with multiple affected individuals, families with few affected individuals, and from population-based studies, appears to be variable within families. Prognosis for breast and ovarian cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 mutations when compared to controls.

Diagnosis Testing

Molecular genetic testing for germline BRCA1 and BRCA2 mutations is available on a clinical basis for individuals who are identified to be at high risk based on their personal and/or family history and for at-risk relatives of an individual with an identified germline BRCA1 or BRCA2 mutation. No currently available technique can guarantee the identification of all cancer-predisposing mutations in BRCA1 or BRCA2. Furthermore, mutations of uncertain clinical significance may be identified.

Genetic Counseling

Germline mutations in BRCA1 and BRCA2 are inherited in an autosomal dominant manner. Each offspring of an individual with a BRCA1 or BRCA2 germline mutation has a 50% chance of inheriting the mutation. Molecular genetic testing of asymptomatic family members at risk of inheriting either a BRCA1 or BRCA2 germline mutation is feasible once the family-specific mutation has been identified. Prenatal testing is possible for pregnancies at increased risk if the cancer-predisposing mutation in the family is known; however, requests for prenatal diagnosis of adult-onset diseases are uncommon and require careful genetic counseling.

References

PMID: 20301425

Hereditary diffuse gastric cancer

MIM: 137215

Genetic Testing Registry

Summary from GeneReviews: Hereditary Diffuse Gastric Cancer

Disease Characteristics

Hereditary diffuse gastric cancer (HDGC) is autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass. Diffuse gastric cancer is also referred to as signet ring carcinoma or isolated cell-type carcinoma. The average age of onset of HDGC is 38 years, with a range of 14-69 years. The majority of the cancers in individuals with a CDH1 mutation occur before age 40 years. The estimated cumulative risk of gastric cancer by age 80 years is 80% for both men and women. Women also have a 39%-52% risk for lobular breast cancer.

Diagnosis Testing

The International Gastric Cancer Linkage Consortium defined HDGC as the presence of two or more documented cases of diffuse gastric cancer in first- or second-degree relatives with at least one case diagnosed prior to age 50 years OR three or more documented cases of diffuse gastric cancer in first- or second-degree relatives, regardless of age of onset. CDH1 is currently the only gene in which mutations are known to cause hereditary diffuse gastric cancer. Molecular genetic testing of CDH1 is available on a clinical basis.

Genetic Counseling

Hereditary diffuse gastric cancer is inherited in an autosomal dominant manner. The vast majority of individuals with a mutation predisposing to diffuse gastric cancer have inherited it from one parent. De novo mutations have not been reported. Each child of a proband has a 50% risk of inheriting the cancer-predisposing mutation. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family is known; however, requests for prenatal testing for conditions such as HDGC that do not affect intellect and have some treatment available are not common.

NHGRI GWAS Catalog

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Vpr, p15	vpr	HIV-1 Vpr-expressing Jurkat T cell clones showed upregulated expression of cadherin, suggesting a role of Vpr in modulating the cell adhesion process	PubMed
Vpu, p16	vpu	HIV-1 Vpu reduces the beta-catenin interaction with E-cadherin and the Vpu-mediated dissociation of beta-catenin with E-cadherin enhances particle release	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NC_000016.8	NP_110378.2	ZEB1	BIND	PubMed	TCF8 (deltaEF1) interacts with the CDH1 (E-cadherin) promoter.
NP_004351.1	NP_001744.2	CAV1	BIND	PubMed	E-cadherin interacts with caveolin-1.
NP_004351.1	NP_001895.1	CTNNB1	BIND	PubMed	Beta-catenin interacts with E-cadherin. This interaction was modelled on a demonstrated interaction between beta-catenin from an unspecified species and human E-cadherin.
NP_004351.1	NP_001895.1	CTNNB1	BIND	PubMed	Beta-catenin interacts with E-cadherin. This interaction was modelled on a demonstrated interaction between human beta-catenin and mouse E-cadherin.
NP_004351.1	NP_001895.1	CTNNB1	BIND	PubMed	E-cadherin interacts with beta-catenin.
NP_004351.1	AAC39822.1	CTNND1	BIND	PubMed	CDH1(Ecad) interacts with P120ctn 3AC. This interaction was modelled on a demonstrated interaction between mouse CDH1(Ecad) and human P120ctn 3AC.
NP_004351.1	NP_005219.2	EGFR	BIND	PubMed	EGFR interacts with E-cadherin
P12830	P61158	ACTR3	HPRD	PubMed
P12830	Q9UJX3	ANAPC7	HPRD	PubMed
P12830	RICS	ARHGAP32	HPRD	PubMed
P12830	O00192	ARVCF	HPRD	PubMed
P12830	Q16790	CA9	HPRD	PubMed
P12830	P42574	CASP3	HPRD	PubMed
P12830	Q14790	CASP8	HPRD	PubMed
P12830	E cadherin binding protein E7	CBLL1	HPRD	PubMed
P12830	P12830	CDH1	HPRD	PubMed
P12830	P55060	CSE1L	HPRD	PubMed
P12830	P68400	CSNK2A1	HPRD	PubMed
P12830	P35221	CTNNA1	HPRD	PubMed
P12830	P35222	CTNNB1	HPRD	PubMed
P12830	O60716	CTNND1	HPRD	PubMed
P12830	Q9UQB3	CTNND2	HPRD	PubMed
P12830	P00533	EGFR	HPRD	PubMed
P12830	Q96RT1	ERBB2IP	HPRD	PubMed
P12830	P15311	EZR	HPRD	PubMed
P12830	Q03113	GNA12	HPRD	PubMed
P12830	Q14344	GNA13	HPRD	PubMed
P12830	P49841	GSK3B	HPRD	PubMed
P12830	Q13547	HDAC1	HPRD	PubMed
P12830	Q92769	HDAC2	HPRD	PubMed
P12830	P46940	IQGAP1	HPRD	PubMed
P12830	P35568	IRS1	HPRD	PubMed
P12830	P38570	ITGAE	HPRD	PubMed
P12830	P26010	ITGB7	HPRD	PubMed
P12830	P14923	JUP	HPRD	PubMed
P12830	Q92597	NDRG1	HPRD	PubMed
P12830	Q14511	NEDD9	HPRD	PubMed
P12830	P98161	PKD1	HPRD	PubMed
P12830	P62136	PPP1CA	HPRD	PubMed
P12830	P49768	PSEN1	HPRD	PubMed
P12830	Q15678	PTPN14	HPRD	PubMed
P12830	P10586	PTPRF	HPRD	PubMed
P12830	P28827	PTPRM	HPRD	PubMed
P12830	Q92930	RAB8B	HPRD	PubMed
P12830	P31350	RRM2	HPRD	PubMed
P12830	P18206	VCL	HPRD	PubMed
BioGRID:107434	BioGRID:106555	ACADVL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:106586	ACTG1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:106602	ACTN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:106596	ACTN4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:114290	ADAM9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:121012	AJAP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:122229	ANAPC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:119591	ANAPC11	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:118982	ANAPC4	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:119537	ANAPC5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:119538	ANAPC7	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:115795	ANP32B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:115585	APC2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:115415	ARPC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:124859	BOC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:107169	C1QBP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:107223	CA9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:122960	CBLL1	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Two-hybrid
BioGRID:107434	BioGRID:107332	CCNB1	BioGRID	PubMed	Biochemical Activity
BioGRID:107434	BioGRID:114400	CDC16	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:114242	CDC23	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:107430	CDC25C	BioGRID	PubMed	Biochemical Activity
BioGRID:107434	BioGRID:128878	CDC26	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:107431	CDC27	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:107433	CDC42	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:107434	CDH1	BioGRID	PubMed	Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:107434	BioGRID:107436	CDH3	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:107434	BioGRID:119165	CDON	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:107470	CDR2	BioGRID	PubMed	Biochemical Activity
BioGRID:107434	BioGRID:107506	CFTR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:107800	CRYAB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:107821	CSE1L	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:107876	CTNNA1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107434	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure
BioGRID:107434	BioGRID:107881	CTNND1	BioGRID	PubMed	Affinity Capture-Western; Co-crystal Structure; Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:107434	BioGRID:108276	EGFR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:113271	EZR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:108532	FER	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:108594	FOXM1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:108810	FYN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:108901	GBAS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:109030	GNA12	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:115914	GNA13	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:107434	BioGRID:109316	HDAC2	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:107434	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:109541	HSPA5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:109544	HSPA8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:109545	HSPA9	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:109561	HSPD1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:109714	IGHA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:114353	IQGAP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:109888	ITGAE	BioGRID	PubMed	Co-purification
BioGRID:107434	BioGRID:109931	JUP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:110046	KRT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:110073	KRT18	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:110054	KRT8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:110055	KRT9	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:110186	LMNA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:115722	MAD2L2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:114655	MAGI1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:110358	MDM2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:110391	MET	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:110731	MYO7A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:115669	NDRG1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:110816	NEDD9	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:110826	NEK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:114080	NIPSNAP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:124517	NKD2	BioGRID	PubMed	Co-fractionation
BioGRID:107434	BioGRID:114074	PKP4	BioGRID	PubMed	Two-hybrid
BioGRID:107434	BioGRID:111362	PLK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:111430	POLR2E	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:111493	PPP1CA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:111642	PSEN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:114663	PTTG1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:119719	RAB8B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:111821	RAD17	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107434	BioGRID:112316	SET	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:112388	SKI	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:112393	SKP2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107434	BioGRID:110267	SMAD7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:115723	TACC3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107434	BioGRID:112910	TGM2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:119625	TRIM33	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:113123	TTK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107434	BioGRID:113867	USP9X	BioGRID	PubMed	Co-fractionation
BioGRID:107434	BioGRID:113257	VCL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:120736	VEZT	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107434	BioGRID:113353	XRCC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107434	BioGRID:113357	YES1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107434	BioGRID:119592	ZC3HC1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity

Pathways from BioSystems

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Adaptive Immune System, organism-specific biosystem (from REACTOME)
Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
Adherens junction, organism-specific biosystem (from KEGG)
Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
Adherens junction, conserved biosystem (from KEGG)
Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
Adherens junctions interactions, organism-specific biosystem (from REACTOME)
Adherens junctions interactions, organism-specific biosystemThe adherens junctions (AJ) are multiprotein complexes that promote homotypic cell adhesion in nearly all types of tissue by linking membrane and cytoskeletal components at discrete contact regions (...
Apoptosis, organism-specific biosystem (from REACTOME)
Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemApoptotic cells show dramatic rearrangements of tight junctions, adherens junctions, and desmosomes (Abreu et al., 2000). Desmosome-specific members of the cadherin superfamily of cell adhesion mole...
Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
Apoptotic execution phase, organism-specific biosystem (from REACTOME)
Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
Arf6 trafficking events, organism-specific biosystem
Arf6 trafficking events
Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
Bladder cancer, organism-specific biosystem (from KEGG)
Bladder cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
Bladder cancer, conserved biosystem (from KEGG)
Bladder cancer, conserved biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
CDC42 signaling events, organism-specific biosystem (from Pathway Interaction Database)
CDC42 signaling events, organism-specific biosystem
CDC42 signaling events
Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
Cell cycle, organism-specific biosystem (from WikiPathways)
Cell cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
Cell junction organization, organism-specific biosystem (from REACTOME)
Cell junction organization, organism-specific biosystem
Cell junction organization
Cell-Cell communication, organism-specific biosystem (from REACTOME)
Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
Cell-cell junction organization, organism-specific biosystem (from REACTOME)
Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
E-cadherin signaling events, organism-specific biosystem (from Pathway Interaction Database)
E-cadherin signaling events, organism-specific biosystem
E-cadherin signaling events
E-cadherin signaling in keratinocytes, organism-specific biosystem (from Pathway Interaction Database)
E-cadherin signaling in keratinocytes, organism-specific biosystem
E-cadherin signaling in keratinocytes
E-cadherin signaling in the nascent adherens junction, organism-specific biosystem (from Pathway Interaction Database)
E-cadherin signaling in the nascent adherens junction, organism-specific biosystem
E-cadherin signaling in the nascent adherens junction
Endometrial cancer, organism-specific biosystem (from KEGG)
Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
Endometrial cancer, conserved biosystem (from KEGG)
Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
FGF signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
FGF signaling pathway, organism-specific biosystem
FGF signaling pathway
Hippo signaling pathway, organism-specific biosystem (from KEGG)
Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Hippo signaling pathway, conserved biosystem (from KEGG)
Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
Melanoma, organism-specific biosystem (from KEGG)
Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
Melanoma, conserved biosystem (from KEGG)
Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
Nectin adhesion pathway, organism-specific biosystem (from Pathway Interaction Database)
Nectin adhesion pathway, organism-specific biosystem
Nectin adhesion pathway
Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
Pathogenic Escherichia coli infection, organism-specific biosystem (from KEGG)
Pathogenic Escherichia coli infection, organism-specific biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
Pathogenic Escherichia coli infection, organism-specific biosystem (from WikiPathways)
Pathogenic Escherichia coli infection, organism-specific biosystemSources: [http://www.genome.jp/kegg/pathway/hsa/hsa05130.html KEGG]
Pathogenic Escherichia coli infection, conserved biosystem (from KEGG)
Pathogenic Escherichia coli infection, conserved biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
RAC1 signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
RAC1 signaling pathway, organism-specific biosystem
RAC1 signaling pathway
Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
Regulation of Wnt-mediated beta catenin signaling and target gene transcription
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
Stabilization and expansion of the E-cadherin adherens junction
Thyroid cancer, organism-specific biosystem (from KEGG)
Thyroid cancer, organism-specific biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
Thyroid cancer, conserved biosystem (from KEGG)
Thyroid cancer, conserved biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
a6b1 and a6b4 Integrin signaling, organism-specific biosystem
a6b1 and a6b4 Integrin signaling

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

PMC84611P1 (e-PCR)
- UniSTS:273449

GDB:361044 (e-PCR)
- UniSTS:156724

GDB:361074 (e-PCR)
- UniSTS:156725

GDB:361084 (e-PCR)
- UniSTS:156726

GDB:361089 (e-PCR)
- UniSTS:156727

GDB:361093 (e-PCR)
- UniSTS:156728

GDB:361098 (e-PCR)
- UniSTS:156729

GDB:361103 (e-PCR)
- UniSTS:156730

GDB:361109 (e-PCR)
- UniSTS:156731

GDB:361113 (e-PCR)
- UniSTS:156732

SHGC-33499 (e-PCR)
- UniSTS:23613

GDB:361120 (e-PCR)
- UniSTS:156733

GDB:361125 (e-PCR)
- UniSTS:156734

GDB:361128 (e-PCR)
- UniSTS:156735

GDB:361131 (e-PCR)
- UniSTS:156736

Cdh1 (e-PCR), detects polymorphism
- UniSTS:472904

RH64967 (e-PCR)
- UniSTS:89433

CDH1_96.2 (e-PCR)
- UniSTS:277087

D1S1423 (e-PCR)
- UniSTS:149619

RH68244 (e-PCR)
- UniSTS:1912

RH64971 (e-PCR)
- UniSTS:91522

STS-T85105 (e-PCR)
- UniSTS:9091

RH91417 (e-PCR)
- UniSTS:88196

PMC134726P1 (e-PCR)
- UniSTS:270747

A008N17 (e-PCR)
- UniSTS:11680

PMC135805P1 (e-PCR)
- UniSTS:270774

PMC135805P2 (e-PCR)
- UniSTS:270775

PMC135805P3 (e-PCR)
- UniSTS:270776

PMC135805P4 (e-PCR)
- UniSTS:270777

PMC135805P5 (e-PCR)
- UniSTS:270778

RH65826 (e-PCR)
- UniSTS:19434

SHGC-149254 (e-PCR)
- UniSTS:176889

Genotypes

See CDH1 SNP Geneview Report
See CDH1 SNP Genotype Report
See CDH1 SNP Variation Viewer Report

Homology

Homologs of the CDH1 gene: The CDH1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GTPase activating protein binding	IPI Inferred from Physical Interaction more info
ankyrin binding	IPI Inferred from Physical Interaction more info	PubMed
beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
calcium ion binding	IEA Inferred from Electronic Annotation more info
cell adhesion molecule binding	NAS Non-traceable Author Statement more info	PubMed
gamma-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein domain specific binding	IEA Inferred from Electronic Annotation more info
protein phosphatase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
adherens junction organization	TAS Traceable Author Statement more info
apoptotic process	TAS Traceable Author Statement more info
cell junction assembly	TAS Traceable Author Statement more info
cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
cell-cell junction organization	TAS Traceable Author Statement more info
cellular component disassembly involved in execution phase of apoptosis	TAS Traceable Author Statement more info
cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
cellular response to indole-3-methanol	IDA Inferred from Direct Assay more info	PubMed
cellular response to lithium ion	IDA Inferred from Direct Assay more info	PubMed
cochlea development	IEA Inferred from Electronic Annotation more info
homophilic cell adhesion	NAS Non-traceable Author Statement more info	PubMed
negative regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
neuron projection development	IEA Inferred from Electronic Annotation more info
pituitary gland development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription factor import into nucleus	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
protein homooligomerization	IEA Inferred from Electronic Annotation more info
protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
protein metabolic process	IEA Inferred from Electronic Annotation more info
regulation of branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA Inferred from Electronic Annotation more info
regulation of immune response	TAS Traceable Author Statement more info
regulation of protein localization to cell surface	IEA Inferred from Electronic Annotation more info
regulation of water loss via skin	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to toxic substance	IEA Inferred from Electronic Annotation more info
salivary gland cavitation	IEA Inferred from Electronic Annotation more info
sensory perception of sound	IEA Inferred from Electronic Annotation more info
synapse assembly	IEA Inferred from Electronic Annotation more info
tight junction assembly	IEA Inferred from Electronic Annotation more info
trophectodermal cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Schmidt-Lanterman incisure	IEA Inferred from Electronic Annotation more info
actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
aggresome	IDA Inferred from Direct Assay more info
apical junction complex	IDA Inferred from Direct Assay more info	PubMed
apical part of cell	IEA Inferred from Electronic Annotation more info
axon terminus	IEA Inferred from Electronic Annotation more info
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
catenin complex	IDA Inferred from Direct Assay more info	PubMed
cell junction	IDA Inferred from Direct Assay more info	PubMed
cell junction	TAS Traceable Author Statement more info	PubMed
cell surface	IEA Inferred from Electronic Annotation more info
cell-cell adherens junction	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info
endosome	IEA Inferred from Electronic Annotation more info
focal adhesion	IDA Inferred from Direct Assay more info
integral to membrane	IDA Inferred from Direct Assay more info	PubMed
internal side of plasma membrane	IDA Inferred from Direct Assay more info
lateral loop	IEA Inferred from Electronic Annotation more info
lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
node of Ranvier	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info
plasma membrane	TAS Traceable Author Statement more info
trans-Golgi network	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: cadherin-1

Names: cadherin-1; CAM 120/80; E-Cadherin; uvomorulin; cell-CAM 120/80; epithelial cadherin; cadherin 1, E-cadherin (epithelial); calcium-dependent adhesion protein, epithelial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008021.1 RefSeqGene

Range

5001..103250

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_301

mRNA and Protein(s)

NM_004360.3 → NP_004351.1 cadherin-1 preproprotein

Status: REVIEWED

Source sequence(s)

AC099314, AK290012, AK312551

Consensus CDS

CCDS10869.1

UniProtKB/Swiss-Prot

P12830

Related

ENSP00000261769, OTTHUMP00000174868, ENST00000261769, OTTHUMT00000268897

Conserved Domains (5) summary

pfam08758
Location:27 – 116
Blast Score: 333

Cadherin_pro; Cadherin prodomain like

pfam01049
Location:732 – 879
Blast Score: 350

Cadherin_C; Cadherin cytoplasmic region

pfam00028
Location:598 – 686
Blast Score: 136

Cadherin; Cadherin domain

cd00031
Location:158 – 258
Blast Score: 315

CA_like; Cadherin repeat-like domain.

cd11304
Location:492 – 591
Blast Score: 214

Cadherin_repeat; Cadherin tandem repeat domain.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

68771195..68869444

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

54643861..54742830

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

69777742..69876090

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01025502.1 (1631..4318)	None
genomic	ABBA01025503.1	None
genomic	ABBA01025504.1	None
genomic	ABBA01025505.1	None
genomic	AC099314.3 (177204..179065)	None
genomic	AMYH01007762.1 (5829..56383)	None
genomic	AMYH01007763.1	None
genomic	CH471092.1	EAW83242.1
		EAW83243.1
		EAW83244.1
		EAW83245.1
genomic	D49685.1	BAA08537.1
genomic	DQ090940.1	AAY68225.1
genomic	L34545.1	AAA21764.1
genomic	L34789.1	None
genomic	S72492.1	AAD14108.1
genomic	Z35402.1	CAA84586.1
mRNA	AB025105.1	BAA88956.1
mRNA	AB025106.1	BAA88957.1
mRNA	AI890107.1	None
mRNA	AK290012.1	BAF82701.1
mRNA	AK297913.1	BAG60232.1
mRNA	AK309703.1	None
mRNA	AK311198.1	None
mRNA	AK312551.1	BAG35448.1
mRNA	BC013851.1	None
mRNA	BC141838.1	AAI41839.1
mRNA	BC144283.1	None
mRNA	BC146662.1	AAI46663.1
mRNA	EU709494.1	ACD87624.1
mRNA	L08599.1	AAA61259.1
mRNA	X12790.1	CAA31279.1
mRNA	X52279.1	CAA36522.1
mRNA	Z13009.1	CAA78353.1
mRNA	Z18923.1	CAA79356.1