Format

Send to:

Choose Destination
    • Showing Current items.

    CDH1 cadherin 1 [ Homo sapiens (human) ]

    Gene ID: 999, updated on 25-Oct-2020

    Summary

    Official Symbol
    CDH1provided by HGNC
    Official Full Name
    cadherin 1provided by HGNC
    Primary source
    HGNC:HGNC:1748
    See related
    Ensembl:ENSG00000039068 MIM:192090
    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; BCDS1; CD324
    Summary
    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]
    Annotation information
    Note: CDH1 (GeneID 999) and FZR1 (GeneID 51343) share the CDH1 symbol. CDH1 is sometimes used as an abbreviation for 'CDC20 homolog 1' which is an alternate name for the FZR1 gene and thus can be confused with the official symbol for cadherin 1 (CDH1). [16 Jul 2018]
    Expression
    Broad expression in thyroid (RPKM 81.8), colon (RPKM 70.0) and 17 other tissues See more
    Orthologs

    Genomic context

    See CDH1 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (68737292..68835537)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (68771128..68869445)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene calponin 2 pseudogene Neighboring gene cadherin 3 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 5 Neighboring gene RNA, 5S ribosomal pseudogene 429 Neighboring gene Sharpr-MPRA regulatory region 4224 Neighboring gene ferritin light chain pseudogene 14 Neighboring gene transport and golgi organization 6 homolog Neighboring gene RNA, U7 small nuclear 42 pseudogene Neighboring gene RNA, U6 small nuclear 898, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Blepharocheilodontic syndrome 1
    MedGen: C4551988 OMIM: 119580 GeneReviews: Not available
    Compare labs
    Endometrial carcinoma
    MedGen: C0476089 OMIM: 608089 GeneReviews: Not available
    Compare labs
    Familial cancer of breast Compare labs
    Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
    GeneReviews: Not available
    Hereditary diffuse gastric cancer Compare labs
    Malignant tumor of prostate
    MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
    GeneReviews: Not available
    Neoplasm of ovary
    MedGen: C0919267 OMIM: 167000 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2020-04-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2020-04-10)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 inhibits the expression of E-cadherin and changes its localization from cell membrane to cytoplasm in polarized oral epithelial cells PubMed
    Tat tat HIV-1 Tat C treated human brain microvascular endothelial cells result in downregulation and dissociation of VE-PTP and SHP2 from VE-cadherin PubMed
    tat HIV-1 Tat C induces phosphorylation of adherens junction proteins VE-cadherin and beta-catenin in human brain microvascular endothelial cells PubMed
    tat HIV-1 Tat inhibits the expression of E-cadherin and changes its localization from cell membrane to cytoplasm in polarized oral epithelial cells PubMed
    Vpr 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 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 Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activating protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding HDA PubMed 
    cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell adhesion molecule binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cell adhesion molecule binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adherens junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adherens junction organization TAS
    Traceable Author Statement
    more info
     
    cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell adhesion via plasma-membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    entry of bacterium into host cell TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    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 protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein catabolic process at postsynapse, modulating synaptic transmission 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
     
    synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical junction complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    apical junction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    colocalizes_with cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    flotillin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    flotillin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    cadherin-1
    Names
    CAM 120/80
    E-cadherin 1
    cadherin 1, E-cadherin (epithelial)
    cadherin 1, type 1, E-cadherin (epithelial)
    calcium-dependent adhesion protein, epithelial
    cell-CAM 120/80
    epididymis secretory sperm binding protein
    epithelial cadherin
    uvomorulin

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_008021.1 RefSeqGene

      Range
      5001..103250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_301

    mRNA and Protein(s)

    1. NM_001317184.2NP_001304113.1  cadherin-1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AB025105, AK312551, EU709494
      Consensus CDS
      CCDS82005.1
      UniProtKB/Swiss-Prot
      P12830
      UniProtKB/TrEMBL
      B3GN61
      Related
      ENSP00000414946.2, ENST00000422392.6
      Conserved Domains (5) summary
      cd00031
      Location:158258
      CA_like; Cadherin repeat-like domain
      cd11304
      Location:431530
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam00028
      Location:537625
      Cadherin; Cadherin domain
      pfam01049
      Location:680816
      Cadherin_C; Cadherin cytoplasmic region
      pfam08758
      Location:27116
      Cadherin_pro; Cadherin prodomain like
    2. NM_001317185.2NP_001304114.1  cadherin-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an exon in its 5' UTR, resulting in a different 5' UTR and the use of a downstream start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AB025106, AC099314, AK312551, EU709494
      UniProtKB/Swiss-Prot
      P12830
      UniProtKB/TrEMBL
      B3GN61, Q9UII7
      Conserved Domains (3) summary
      cd11304
      Location:375
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam00028
      Location:82170
      Cadherin; Cadherin domain
      pfam01049
      Location:225361
      Cadherin_C; Cadherin cytoplasmic region
    3. NM_001317186.2NP_001304115.1  cadherin-1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in its 5' UTR, resulting in a different 5' UTR and the use of a downstream start site compared to variant 1. The encoded isoform (4) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AK312551, BC144283, EU709494
      UniProtKB/Swiss-Prot
      P12830
      UniProtKB/TrEMBL
      B3GN61
      Conserved Domains (1) summary
      pfam01049
      Location:83224
      Cadherin_C; Cadherin cytoplasmic region
    4. NM_004360.5NP_004351.1  cadherin-1 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_004351.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK290012, AK312551, EU709494
      Consensus CDS
      CCDS10869.1
      UniProtKB/Swiss-Prot
      P12830
      UniProtKB/TrEMBL
      A0A0U2ZQU7, B3GN61
      Related
      ENSP00000261769.4, ENST00000261769.10
      Conserved Domains (5) summary
      cd00031
      Location:158258
      CA_like; Cadherin repeat-like domain
      cd11304
      Location:492591
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:738879
      Cadherin_C; Cadherin cytoplasmic region
      pfam08758
      Location:27116
      Cadherin_pro; Cadherin prodomain like
      cl09101
      Location:598686
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      68737292..68835537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center