Gene: CDH1

Basic information

Tag Content
Uniprot ID P12830; A8K1U7; Q13799; Q14216; Q15855; Q16194; Q4PJ14; Q9UII8;
Entrez ID 999
Genbank protein ID BAA08537.1; CAA84586.1; CAA78353.1; CAA36522.1; EAW83244.1; AAA61259.1; BAF82701.1; EAW83243.1; BAA88956.1; AAA21764.1; AAY68225.1; AAD14108.1; BAG35448.1; CAA79356.1; CAA31279.1;
Genbank nucleotide ID NM_001317185.1; NM_001317184.1; NM_004360.4; NM_001317186.1;
Ensembl protein ID ENSP00000261769; ENSP00000414946;
Ensembl nucleotide ID ENSG00000039068
Gene name Cadherin-1
Gene symbol CDH1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 26123647; 20880515; 28376813; 28151848; 24838934;
Functional description Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7.
Sequence
MGPWSRSLSA LLLLLQVSSW LCQEPEPCHP GFDAESYTFT VPRRHLERGR VLGRVNFEDC 60
TGRQRTAYFS LDTRFKVGTD GVITVKRPLR FHNPQIHFLV YAWDSTYRKF STKVTLNTVG 120
HHHRPPPHQA SVSGIQAELL TFPNSSPGLR RQKRDWVIPP ISCPENEKGP FPKNLVQIKS 180
NKDKEGKVFY SITGQGADTP PVGVFIIERE TGWLKVTEPL DRERIATYTL FSHAVSSNGN 240
AVEDPMEILI TVTDQNDNKP EFTQEVFKGS VMEGALPGTS VMEVTATDAD DDVNTYNAAI 300
AYTILSQDPE LPDKNMFTIN RNTGVISVVT TGLDRESFPT YTLVVQAADL QGEGLSTTAT 360
AVITVTDTND NPPIFNPTTY KGQVPENEAN VVITTLKVTD ADAPNTPAWE AVYTILNDDG 420
GQFVVTTNPV NNDGILKTAK GLDFEAKQQY ILHVAVTNVV PFEVSLTTST ATVTVDVLDV 480
NEAPIFVPPE KRVEVSEDFG VGQEITSYTA QEPDTFMEQK ITYRIWRDTA NWLEINPDTG 540
AISTRAELDR EDFEHVKNST YTALIIATDN GSPVATGTGT LLLILSDVND NAPIPEPRTI 600
FFCERNPKPQ VINIIDADLP PNTSPFTAEL THGASANWTI QYNDPTQESI ILKPKMALEV 660
GDYKINLKLM DNQNKDQVTT LEVSVCDCEG AAGVCRKAQP VEAGLQIPAI LGILGGILAL 720
LILILLLLLF LRRRAVVKEP LLPPEDDTRD NVYYYDEEGG GEEDQDFDLS QLHRGLDARP 780
EVTRNDVAPT LMSVPRYLPR PANPDEIGNF IDENLKAADT DPTAPPYDSL LVFDYEGSGS 840
EAASLSSLNS SESDKDQDYD YLNEWGNRFK KLADMYGGGE DD 882

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
CDH1c.760G>A; p.Asp254AsnNext-generation sequencing (NGS; exome or targeted gene sequencing) and Sanger sequencing (SS)26123647
CDH1rs1801552TaqMan genotyping24838934
CDH1rs16260PCR-RFLP20880515
CDH1rs1801552C>TGenotyping28151848
CDH1c.760G>A; p.Asp254Asnexome or targeted gene sequencing and Sanger sequencing 26123647
CDH1c.468G>C; pTrp156Cys (heterozygous)WES and Sanger sequencing3168429
CDH1g.68844164C>T; p.Thr251MetWES and Sanger sequencing29805042
CDH1g.68844172G>A; p.Asp254AsnWES and Sanger sequencing29805042
CDH1g.68844180T>A; p.Asn256LysWES and Sanger sequencing29805042
CDH1g.68849586G>A; p.Glu497LysWES and Sanger sequencing29805042
CDH1g.68855958A>T; p.Asn589IleWES and Sanger sequencing29805042
CDH1g.68863687_68863688del; p.Asn809Ilefs*3WES and Sanger sequencing29805042

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005509 calcium ion bindingIBA
GO:0005515 protein bindingIPI
GO:0008013 beta-catenin bindingIDA
GO:0008092 cytoskeletal protein bindingIBA
GO:0030506 ankyrin bindingIPI
GO:0032794 GTPase activating protein bindingIPI
GO:0042802 identical protein bindingIPI
GO:0042803 protein homodimerization activityIBA
GO:0045295 gamma-catenin bindingIPI
GO:0045296 cadherin bindingIBA
GO:0045296 cadherin bindingHDA
GO:0050839 cell adhesion molecule bindingNAS
GO:0050839 cell adhesion molecule bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000902 cell morphogenesisIBA
GO:0007043 cell-cell junction assemblyIBA
GO:0007156 homophilic cell adhesion via plasma membrane adhesion moleculesNAS
GO:0007156 homophilic cell adhesion via plasma membrane adhesion moleculesIBA
GO:0007275 multicellular organism developmentIBA
GO:0007416 synapse assemblyIBA
GO:0009636 response to toxic substanceIEA
GO:0010468 regulation of gene expressionIMP
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesIBA
GO:0021983 pituitary gland developmentIEA
GO:0022408 negative regulation of cell-cell adhesionIMP
GO:0030198 extracellular matrix organizationTAS
GO:0030336 negative regulation of cell migrationIMP
GO:0031175 neuron projection developmentIEA
GO:0034332 adherens junction organizationIMP
GO:0034332 adherens junction organizationIBA
GO:0034332 adherens junction organizationTAS
GO:0035635 entry of bacterium into host cellTAS
GO:0042307 positive regulation of protein import into nucleusIDA
GO:0044331 cell-cell adhesion mediated by cadherinIBA
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0071285 cellular response to lithium ionIDA
GO:0071681 cellular response to indole-3-methanolIDA
GO:0072659 protein localization to plasma membraneIDA
GO:0072659 protein localization to plasma membraneIMP
GO:0098609 cell-cell adhesionIDA
GO:0098609 cell-cell adhesionIBA
GO:0099576 regulation of protein catabolic process at postsynapse, modulating synaptic transmissionIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005737 cytoplasmIBA
GO:0005768 endosomeIEA
GO:0005802 trans-Golgi networkIMP
GO:0005886 plasma membraneIBA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005912 adherens junctionIDA
GO:0005912 adherens junctionIBA
GO:0009898 cytoplasmic side of plasma membraneIDA
GO:0009986 cell surfaceIBA
GO:0015629 actin cytoskeletonIDA
GO:0016021 integral component of membraneIDA
GO:0016328 lateral plasma membraneIDA
GO:0016342 catenin complexIDA
GO:0016342 catenin complexIBA
GO:0016600 flotillin complexIBA
GO:0016600 flotillin complexIDA
GO:0030027 lamellipodiumIDA
GO:0030054 cell junctionTAS
GO:0030054 cell junctionIDA
GO:0043296 apical junction complexIDA
GO:0043296 apical junction complexIBA
GO:0048471 perinuclear region of cytoplasmIDA
GO:0070062 extracellular exosomeHDA
GO:0098794 postsynapseIEA
GO:0098978 glutamatergic synapseIEA
GO:0030864 cortical actin cytoskeletonIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109581 ApoptosisTAS
R-HSA-111465 Apoptotic cleavage of cellular proteinsTAS
R-HSA-1280218 Adaptive Immune SystemIEA
R-HSA-1474228 Degradation of the extracellular matrixTAS
R-HSA-1474228 Degradation of the extracellular matrixIEA
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1474244 Extracellular matrix organizationIEA
R-HSA-1500931 Cell-Cell communicationTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
R-HSA-168256 Immune SystemIEA
R-HSA-194315 Signaling by Rho GTPasesTAS
R-HSA-195258 RHO GTPase EffectorsTAS
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellIEA
R-HSA-216083 Integrin cell surface interactionsTAS
R-HSA-351906 Apoptotic cleavage of cell adhesion proteinsTAS
R-HSA-418990 Adherens junctions interactionsTAS
R-HSA-421270 Cell-cell junction organizationTAS
R-HSA-446728 Cell junction organizationTAS
R-HSA-5357801 Programmed Cell DeathTAS
R-HSA-5626467 RHO GTPases activate IQGAPsTAS
R-HSA-5663205 Infectious diseaseTAS
R-HSA-75153 Apoptotic execution phaseTAS
R-HSA-8876384 Listeria monocytogenes entry into host cellsTAS
R-HSA-8876493 InlA-mediated entry of Listeria monocytogenes into host cellsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0106 Calcium
KW-0130 Cell adhesion
KW-0965 Cell junction
KW-1003 Cell membrane
KW-0165 Cleavage on pair of basic residues
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0038 Ectodermal dysplasia
KW-0967 Endosome
KW-0325 Glycoprotein
KW-0333 Golgi apparatus
KW-0472 Membrane
KW-0479 Metal-binding
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR039808 Cadherin
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR014868 Cadherin_pro_dom
IPR027397 Catenin_binding_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS00232 CADHERIN_1
PS50268 CADHERIN_2

Pfam

Pfam ID Pfam Term
PF00028 Cadherin
PF01049 Cadherin_C
PF08758 Cadherin_pro

Protein-protein interaction

Protein-miRNA interaction