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FLASH GENE
Symbol CTNND1 contributors: mct/pgu - updated : 17-06-2015
HGNC name catenin (cadherin-associated protein), delta 1
HGNC id 2515
Location 11q12.1      Physical location : 57.529.233 - 57.586.651
Synonym name
  • cDNA sequence, expressed in brain, >100kDa, homolog to murine p120 protein
  • cadherin associated src substrate
  • p120 catenin
  • Synonym symbol(s) CTNND, K, IAA0384, P120CAS, P120CTN, CAS, p120
    DNA
    TYPE functioning gene
    STRUCTURE 57.42 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    AGTRL1 11q12 angiotensin II receptor-like 1 TNKS1BP1 11q12.2 tankyrase 1 binding protein 1, 182kDa SSRP1 11q12.1-q12.2 structure specific recognition protein 1 P2RX3 11q12 purinergic receptor P2X, ligand-gated ion channel, 3 PRG3 11q12 proteoglycan 3 PRG2 11q12 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) EEG1 11q11 likely ortholog of mouse embryonic epithelial gene 1 NGRH1 SLC43A1 11p11.2-p11.1 solute carrier family 43, member 1 TIMM10 11q12.1-q12.3 translocase of inner mitochondrial membrane 10 homolog (yeast) LOC219537 11q12.1 similar to RIKEN cDNA 1110030K22 UBE2L6 11q12 ubiquitin-conjugating enzyme E2L 6 LOC390183 11 similar to ribosomal protein S4, X-linked SERPING1 11q12.1 serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) FLJ30213 11q12.1 hypothetical protein FLJ30213 HEAB 11q12 hypothetical protein FLJ30213 ZDHHC5 11q12.2 zinc finger, DHHC domain containing 5 LCMR1 11q12.1 lung cancer metastasis-related protein 1 TMX2 11cen-q22.3 thioredoxin-related transmembrane protein 2 SELH 11q12.1 selenoprotein H CTNND1 11q11 catenin (cadherin-associated protein), delta 1 LOC390184 11 similar to seven transmembrane helix receptor LOC283193 11q12.1 similar to seven transmembrane helix receptor HCP26 11q12.1 cytochrome c, somatic pseudogene LOC219952 11q12.1 similar to Olfactory receptor 6Q1 LOC387771 11 LOC387771 LOC219953 11q12.1 similar to seven transmembrane helix receptor LOC219954 11q12.1 similar to Olfactory receptor 9I1 OR9I2P 11q13.1 olfactory receptor, family 9, subfamily I, member 2 pseudogene LOC219956 11q12.1 similar to Olfactory receptor 9Q1 LOC219957 11q12.1 similar to seven transmembrane helix receptor LOC219958 11q12.1 similar to Olfactory receptor 1S2 LOC219959 11q12.1 similar to Olfactory receptor 1S1 LOC219960 11q12.1 similar to Olfactory receptor 10Q1 LOC387772 11 similar to seven transmembrane helix receptor LOC219964 11q12.1 similar to Olfactory receptor 10Q1
    RNA
    TRANSCRIPTS type messenger
    text combination of different start codons (type 1->4) and alternative splicing of coding exons A(18), B(20), C(11) produced 32 isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 initiation site 6363 108.04 968 - 1998 9653641
  • variant 1 - type 1/ABC
  • promotes invasiveness (Yanagisawa 2008)
  • - initiation site 6012 - 914 - 1998 9653641
    including exons A, B, C
    19 initiation site 5882 96.6 867 - 1998 9653641
    including exons A, B, C
    - initiation site 5071 - 645 - 1998 9653641
    including exons A, B, C
    19 splicing 6258 104 933 most highly expressed isoforms in normal lung tissues 1998 9653641
    19 splicing 6282 105 941 - 1998 9653641
    variant 3 - type1B
    20 splicing 6345 107 962 - 1998 9653641
  • variant 2 - type 1AB
  • - splicing 6200 - 939 - 1998 9653641
    - splicing initiation site 5900 - 879 - 1998 9653641
    - splicing initiation site 5900 - 887 - 1998 9653641
    - splicing initiation site 6000 - 908 - 1998 9653641
    - splicing initiation site 5900 - 885 - 1998 9653641
    17 splicing initiation site 5850 92.5 832 most highly expressed isoforms in normal lung tissues 1998 9653641
    had a greater ability than isoform 1A in both inhibiting the cell cycle and reducing tumor cell proliferation (Liu 2009)
    17 splicing initiation site 5801 93.3 840 - 1998 9653641
    18 splicing initiation site 5864 95.7 861 - 1998 9653641
    18 splicing initiation site 5795 93.4 838 - 1998 9653641
    - splicing initiation site 5000 - 610 - 1998 9653641
    - splicing initiation site 5000 - 618 - 1998 9653641
    - splicing initiation site 5100 - 639 - 1998 9653641
    - splicing initiation site 5000 - 616 - 1998 9653641
    19 - 6185 - 933 most highly expressed isoforms in normal lung tissues 1998 9653641
    18 - 6066 - 933 most highly expressed isoforms in normal lung tissues 1998 9653641
    17 - 5777 - 832 most highly expressed isoforms in normal lung tissues 1998 9653641
    had a greater ability than isoform 1A in both inhibiting the cell cycle and reducing tumor cell proliferation (Liu 2009)
    16 - 5705 - 832 most highly expressed isoforms in normal lung tissues 1998 9653641
    had a greater ability than isoform 1A in both inhibiting the cell cycle and reducing tumor cell proliferation (Liu 2009)
    20 - 6276 - 939 - 1998 9653641
    19 - 6149 - 879 - 1998 9653641
    17 - 5799 - 832 - 1998 9653641
    20 - 6076 - 879 - 1998 9653641
    20 - 6062 - 914 - 1998 9653641
    19 - 5975 - 885 - 1998 9653641
    19 - 6044 - 908 - 1998 9653641
    19 - 5957 - 879 - 1998 9653641
    18 - 5981 - 887 - 1998 9653641
    18 - 5795
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     mouthpalate    Homo sapiensFetal
    Reproductivefemale systembreastmammary gland highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier lining    Homo sapiensFetal
    Epithelialbarrier liningendothelium  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal head domain
  • a potential coiled-coil forming alpha-helix segment
  • a central domain with ten repeats of the Armadillo motif (ARM domains)
  • a C terminal tail domain, with a minimal sequence responsible for the recruitment of ARHGAP5 (herein referred to as CRAD, catenin-RhoGAP association domain)
  • HOMOLOGY
    interspecies homolog to murine Ctnnd1 (97.8pc)
    Homologene
    FAMILY
  • beta-catenin family, Armadillo gene family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text nuclear in particular cells (localize in the nucleus, although the nuclear function of p120 is not fully understood)
    basic FUNCTION
  • involved in cell structure and adhesion
  • may associate with and regulate the cell adhesion properties of both c- and e-cadherins
  • involved in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors
  • in association with GRLF1, regulating cadherin function
  • critical E-cadherin binding partner that stabilizes adherens junction strength
  • codependent role in regulating Rac-depedent antagonism of Rho
  • cadherin-associated protein that regulates Rho GTPases and promotes the invasiveness of E-cadherin-deficient cancer cells
  • physical interaction between CTNND1 and Rho-associated protein kinase 1 (ROCK1), a major effector of RHOA
  • essential role for CTNND1 in mammary morphogenesis
  • CTNND1 signaling in motor neurons promotes nerve-muscle interaction and neuromuscular junction (NMJ) assembly
  • stabilizes cadherins and demonstrate that CDH5 endocytosis is crucial for endothelial cell migration in response to an angiogenic growth factor
  • CTNND1, CTNNB1 have distinct but complementary roles in strengthening cadherin-mediated adhesion
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • constituent of the E cadherin multiprotein complex
  • constituent of desmosomal plaque
  • component of adherens junctions
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cytoplasmic domain of cadherins
  • binding to and inhibiting the transcriptional repressor ZBTB33
  • interacting with GRLF1
  • interactor of the DSG proteins (DSG3), which may play a role in desmosome remodeling
  • directly binds to the intracytoplasmic domains of classical cadherins (promotes the stabilization of cadherin complexes on the plasma membrane and thus positively regulates the adhesive activity of cadherins)
  • interacting with GLIS2
  • ZNF703 interacting with CTNND1 (promotes expression of CTNND1 and alters CTNND1 localization upon cell contact with the extracellular matrix)
  • CTNNA1/CTNND1 contact within the cadherin-catenin complex can regulate cadherin trafficking
  • physical interaction between CTNND1 and Rho-associated protein kinase 1 (ROCK1), a major effector of RHOA
  • ubiquitination of CDH1 juxtamembrane domain inhibits CTNND1 binding, and targets CDH1 for degradation
  • binds to the cytoplasmic tails of classical cadherins and inhibits cadherin endocytosis
  • CDH5 interacts with CTNND1and CTNNB1 through its cytoplasmic tail
  • is a key effector of a RAS-PKCE oncogenic signaling axis
  • critical role for CTNND1 (AAs 820-843) domain in the CTNND1/ARHGAP5 signaling complex assembly, membrane targeting, and stimulation of ARHGAP5 activity toward inhibition of the Rho pathway
  • PLEKHA7 bound to MLLT4 in addition to CTNND1 and was associated with nectin by binding to MLLT4
  • interactions between CTNND1 and MUC1, and these interactions modulate dynamic properties of cell adhesion, motility, and metastasis of pancreatic cancer cells
  • interacts with CTNND1 and governs microtubule dynamics at adherens junctions
  • cell & other
    REGULATION
    activated by E2F1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in high-grade submandibular gland neoplasia
    tumoral        
    in skin squamous cell carcinomas (associated with NFKB activation )
    tumoral     --over  
    during tumor progression contributes to the invasive phenotype of cadherin-deficient carcinomas
    Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate (NS-CL/P)
    Variant & Polymorphism other
  • pathogenic variants identified in CTNND1 in cases of NS-CL/P
  • Candidate gene
    Marker
  • delocalization/loss of expression could be an independent prognostic marker in oral squamous cell carcinomas
  • cytoplasmic CTNND1, cytoplasmic ZBTB33, and nuclear MTA2 expression correlated directly with histological type and Masaoka stage and may thus be used as potential biomarkers to predict biological behavior of thymoma
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    N-terminal domain is a valid therapeutic target in cancer
    ANIMAL & CELL MODELS