CDH1
Cadherin-1
Also known as: CADH1_HUMAN, CD324, UVO, uvomorulin
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P12830
- Gene
- CDH1
- Ensembl
- ENSG00000039068
- Chromosome
- 16
- Canonical length
- 882 aa
- Protein class
- Cancer-related genes, CD markers, Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Golgi apparatus,Plasma membrane,Cell Junctions
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
882 residues, UniProt reviewed canonical sequence.
>P12830|CDH1
1 MGPWSRSLSA LLLLLQVSSW LCQEPEPCHP GFDAESYTFT VPRRHLERGR VLGRVNFEDC
61 TGRQRTAYFS LDTRFKVGTD GVITVKRPLR FHNPQIHFLV YAWDSTYRKF STKVTLNTVG
121 HHHRPPPHQA SVSGIQAELL TFPNSSPGLR RQKRDWVIPP ISCPENEKGP FPKNLVQIKS
181 NKDKEGKVFY SITGQGADTP PVGVFIIERE TGWLKVTEPL DRERIATYTL FSHAVSSNGN
241 AVEDPMEILI TVTDQNDNKP EFTQEVFKGS VMEGALPGTS VMEVTATDAD DDVNTYNAAI
301 AYTILSQDPE LPDKNMFTIN RNTGVISVVT TGLDRESFPT YTLVVQAADL QGEGLSTTAT
361 AVITVTDTND NPPIFNPTTY KGQVPENEAN VVITTLKVTD ADAPNTPAWE AVYTILNDDG
421 GQFVVTTNPV NNDGILKTAK GLDFEAKQQY ILHVAVTNVV PFEVSLTTST ATVTVDVLDV
481 NEAPIFVPPE KRVEVSEDFG VGQEITSYTA QEPDTFMEQK ITYRIWRDTA NWLEINPDTG
541 AISTRAELDR EDFEHVKNST YTALIIATDN GSPVATGTGT LLLILSDVND NAPIPEPRTI
601 FFCERNPKPQ VINIIDADLP PNTSPFTAEL THGASANWTI QYNDPTQESI ILKPKMALEV
661 GDYKINLKLM DNQNKDQVTT LEVSVCDCEG AAGVCRKAQP VEAGLQIPAI LGILGGILAL
721 LILILLLLLF LRRRAVVKEP LLPPEDDTRD NVYYYDEEGG GEEDQDFDLS QLHRGLDARP
781 EVTRNDVAPT LMSVPRYLPR PANPDEIGNF IDENLKAADT DPTAPPYDSL LVFDYEGSGS
841 EAASLSSLNS SESDKDQDYD YLNEWGNRFK KLADMYGGGE DDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDH1 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
- 1
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 186 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 186 nTPM
- thyroid gland: 153 nTPM
- duodenum: 126 nTPM
- rectum: 123 nTPM
- small intestine: 120 nTPM
- colon: 120 nTPM
Single-cell type
- urothelial cells: 1,359 nCPM
- endometrial glandular cells: 1,175 nCPM
- ocular epithelial cells: 1,009 nCPM
- pancreatic acinar cells: 822 nCPM
- endometrial luminal cells: 764 nCPM
- epididymal basal cells: 612 nCPM
Immune cell
- plasmacytoid DC: 4.7 nTPM
- myeloid DC: 1.7 nTPM
- memory CD8 T-cell: 0.2 nTPM
- NK-cell: 0.2 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- choroid plexus: 43 nTPM
- white matter: 5.7 nTPM
- thalamus: 4.8 nTPM
- cerebral cortex: 4.6 nTPM
- medulla oblongata: 4.6 nTPM
- spinal cord: 4.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CDH1.
Disease | AllUniProt
Conditions CDH1 is implicated in, by any mechanism.
- Diffuse gastric and lobular breast cancer syndrome (DGLBC) MIM:137215
- Endometrial cancer (ENDMC) MIM:608089
- Ovarian cancer (OC) MIM:167000
- Breast cancer, lobular (LBC) MIM:137215
- Blepharocheilodontic syndrome 1 (BCDS1) MIM:119580
Disease | GeneticClinVar
647 pathogenic / likely-pathogenic of 5,147 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hereditary diffuse gastric adenocarcinoma
- Hereditary cancer-predisposing syndrome
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Familial cancer of breast
- Gastric cancer
Disease | ImmuneIEDB
Conditions an epitope on CDH1 was assayed in.
- type 1 diabetes mellitus T cell
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)
- 0.43
- gnomAD pLI
- 0.15
- gnomAD missense Z
- 0.71
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adherens junction organization
- calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
- cell migration
- cell morphogenesis
- cell-cell adhesion
- cell-cell adhesion mediated by cadherin
- cell-cell junction assembly
- cellular response to indole-3-methanol
- cellular response to lithium ion
- desmosome assembly
- homophilic cell adhesion via plasma membrane adhesion molecules
- negative regulation of axon extension
- negative regulation of cell migration
- negative regulation of cell-cell adhesion
- neuron projection development
- pituitary gland development
- positive regulation of DNA-templated transcription
- positive regulation of protein import into nucleus
- positive regulation of protein localization
- protein localization to plasma membrane
- regulation of gene expression
- regulation of protein catabolic process at postsynapse, modulating synaptic transmission
- response to Gram-positive bacterium
- response to heparin
- response to toxic substance
- response to xenobiotic stimulus
- synapse assembly
Molecular functions
- ankyrin binding
- beta-catenin binding
- cadherin binding
- calcium ion binding
- cell adhesion mediator activity
- cell adhesion molecule binding
- gamma-catenin binding
- GTPase activating protein binding
- identical protein binding
- protein tyrosine kinase binding
Cellular components
- actin cytoskeleton
- adherens junction
- apical junction complex
- catenin complex
- cell junction
- cytoplasm
- cytoplasmic side of plasma membrane
- desmosome
- early endosome membrane
- endoplasmic reticulum lumen
- endoplasmic reticulum membrane
- extracellular exosome
- extracellular region
- flotillin complex
- glutamatergic synapse
- Golgi lumen
- Golgi membrane
- lamellipodium
- lateral plasma membrane
- lysosomal membrane
- membrane
- perinuclear region of cytoplasm
- plasma membrane
- postsynapse
- trans-Golgi network
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CDH1 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 CDH1 as an antibody target. Whether an autoantibody or antibody against CDH1 could matter depends on whether native CDH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDH1 is annotated at the cell surface, where native CDH1 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 CDH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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