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Aliases for CTNND1 Gene

Aliases for CTNND1 Gene

  • Catenin Delta 1 2 3 5
  • Catenin (Cadherin-Associated Protein), Delta 1 2 3
  • Cadherin-Associated Src Substrate 3 4
  • P120 Catenin 3 4
  • P120(CAS) 3 4
  • P120(CTN) 3 4
  • CAS 3 4
  • Catenin Delta-1 3
  • KIAA0384 4
  • P120CAS 3
  • P120CTN 3
  • CTNND 3
  • P120 3

External Ids for CTNND1 Gene

Previous HGNC Symbols for CTNND1 Gene

  • CTNND

Previous GeneCards Identifiers for CTNND1 Gene

  • GC11P059875
  • GC11P059042
  • GC11P057304
  • GC11P057237
  • GC11P057286
  • GC11P057240
  • GC11P057287
  • GC11P057531
  • GC11P053877

Summaries for CTNND1 Gene

Entrez Gene Summary for CTNND1 Gene

  • This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for CTNND1 Gene

CTNND1 (Catenin Delta 1) is a Protein Coding gene. Diseases associated with CTNND1 include Pulmonary Sclerosing Hemangioma and Sclerosing Hemangioma. Among its related pathways are Adhesion and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. GO annotations related to this gene include binding and receptor binding. An important paralog of this gene is ARVCF.

UniProtKB/Swiss-Prot for CTNND1 Gene

  • Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage.

Gene Wiki entry for CTNND1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTNND1 Gene

Genomics for CTNND1 Gene

Regulatory Elements for CTNND1 Gene

Enhancers for CTNND1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F057740 0.5 ENCODE 20.8 -11.4 -11354 2.7 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 TNKS1BP1 SSRP1 CTNND1 RPS4XP13 OR5AZ1P OR9Q2 OR5B15P OR5B1P OR5B21 MED19
GH11F057973 0.8 ENCODE 20.5 +220.9 220873 0.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TNKS1BP1 SSRP1 CTNND1 OR5AZ1P OR9Q2 RPS4XP13 OR5B1P OR5B15P OR5B21 BTBD18
GH11F058572 1 FANTOM5 ENCODE 20.4 +824.2 824243 9.5 CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 PPARGC1A MEF2D ENSG00000255008 LPXN CTNND1 OR5B21 ENSG00000197254 ENSG00000269570 CNTF ZDHHC5 ZFP91 GC11M058554
GH11F057773 1.6 FANTOM5 Ensembl ENCODE 12.5 +28.6 28627 16.1 PKNOX1 MLX WRNIP1 SIN3A FEZF1 FOS KLF13 SP5 NFYC ZHX2 YPEL4 TIMM10 MED19 SELENOH BTBD18 CTNND1 ENSG00000254732 CLP1 ENSG00000254602 SMTNL1
GH11F057797 1.2 Ensembl ENCODE 12.3 +47.4 47394 5.6 HDGF PKNOX1 MLX ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF143 FOS MED19 YPEL4 SSRP1 CTNND1 BTBD18 ENSG00000254732 SELENOH ENSG00000269570 ZDHHC5 TIMM10
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CTNND1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CTNND1 Gene

Chromosome:
11
Start:
57,753,243 bp from pter
End:
57,819,546 bp from pter
Size:
66,304 bases
Orientation:
Plus strand

Genomic View for CTNND1 Gene

Genes around CTNND1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNND1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNND1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNND1 Gene

Proteins for CTNND1 Gene

neXtProt entry for CTNND1 Gene

Post-translational modifications for CTNND1 Gene

  • Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK5. Dephosphorylated by PTPRJ.
  • Ubiquitination at Lys 710
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CTNND1 (CTNND1)

No data available for DME Specific Peptides for CTNND1 Gene

Domains & Families for CTNND1 Gene

Gene Families for CTNND1 Gene

Protein Domains for CTNND1 Gene

Suggested Antigen Peptide Sequences for CTNND1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60716

UniProtKB/Swiss-Prot:

CTND1_HUMAN :
  • A possible nuclear localization signal exists in all isoforms where Asp-626--631-Arg are deleted.
  • Belongs to the beta-catenin family.
  • Contains 10 ARM repeats.
Domain:
  • A possible nuclear localization signal exists in all isoforms where Asp-626--631-Arg are deleted.
  • ARM repeats 1 to 5 mediate interaction with cadherins.
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • Contains 10 ARM repeats.
genes like me logo Genes that share domains with CTNND1: view

Function for CTNND1 Gene

Molecular function for CTNND1 Gene

GENATLAS Biochemistry:
catenin delta 1,120kDa,multiple isoforms,desmosomal plaque component regulating cell adhesion (component of E cadherin multiprotein complex, homologous to Drosophila Armadillo segment polarity gene)
UniProtKB/Swiss-Prot Function:
Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage.
UniProtKB/Swiss-Prot Induction:
Induced in vascular endothelium by wounding. This effect is potentiated by prior laminar shear stress, which enhances wound closure.

Gene Ontology (GO) - Molecular Function for CTNND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 19332538
GO:0005515 protein binding IPI 12370829
GO:0019901 protein kinase binding IEA --
GO:0045296 cadherin binding IEA,IPI 12734196
GO:0050839 cell adhesion molecule binding IEA --
genes like me logo Genes that share ontologies with CTNND1: view
genes like me logo Genes that share phenotypes with CTNND1: view

Animal Model Products

miRNA for CTNND1 Gene

miRTarBase miRNAs that target CTNND1

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CTNND1 Gene

Localization for CTNND1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNND1 Gene

Cytoplasm. Nucleus. Cell membrane. Note=Interaction with GLIS2 promotes nuclear translocation (By similarity). Detected at cell-cell contacts. NANOS1 induces its translocation from sites of cell-cell contact to the cytoplasm. Isoforms 4A and 1AB are excluded from the nucleus. {ECO:0000250}.
Isoform 1A: Nucleus.
Isoform 2A: Nucleus.
Isoform 3A: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTNND1 Gene COMPARTMENTS Subcellular localization image for CTNND1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for CTNND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20123964
GO:0005737 cytoplasm IEA,IDA 17047063
GO:0005829 cytosol IMP 20123964
GO:0005886 plasma membrane IEA,TAS --
GO:0005911 cell-cell junction IDA 12370829
genes like me logo Genes that share ontologies with CTNND1: view

Pathways & Interactions for CTNND1 Gene

genes like me logo Genes that share pathways with CTNND1: view

SIGNOR curated interactions for CTNND1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CTNND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007155 cell adhesion IEA,NAS 8808291
GO:0007420 brain development IEA --
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with CTNND1: view

Drugs & Compounds for CTNND1 Gene

(14) Drugs for CTNND1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CTNND1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTNND1: view

Transcripts for CTNND1 Gene

Unigene Clusters for CTNND1 Gene

Catenin (cadherin-associated protein), delta 1:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTNND1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - -
SP6: - -
SP7: - - -
SP8: - - - - -
SP9: - - - - - -
SP10: - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - - -
SP14: - - - - - - -
SP15: - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - - - -
SP19: - - - - - - - - - - -
SP20: - - - - - - - - -
SP21:
SP22: - -
SP23:
SP24: - -
SP25:
SP26:
SP27:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: - - -
SP10: - - -
SP11: - -
SP12: - - -
SP13: - - -
SP14: - - -
SP15: - - -
SP16: - - -
SP17: - -
SP18: - - -
SP19: - - -
SP20: - - -
SP21:
SP22:
SP23: -
SP24:
SP25:
SP26:
SP27:

Relevant External Links for CTNND1 Gene

GeneLoc Exon Structure for
CTNND1
ECgene alternative splicing isoforms for
CTNND1

Expression for CTNND1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTNND1 Gene

Protein differential expression in normal tissues from HIPED for CTNND1 Gene

This gene is overexpressed in Breast (9.9) and Islet of Langerhans (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CTNND1 Gene



Protein tissue co-expression partners for CTNND1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTNND1 Gene:

CTNND1

SOURCE GeneReport for Unigene cluster for CTNND1 Gene:

Hs.166011

mRNA Expression by UniProt/SwissProt for CTNND1 Gene:

O60716-CTND1_HUMAN
Tissue specificity: Expressed in vascular endothelium. Melanocytes and melanoma cells primarily express the long isoform 1A, whereas keratinocytes express shorter isoforms, especially 3A. The shortest isoform 4A, is detected in normal keratinocytes and melanocytes, and generally lost from cells derived from squamous cell carcinomas or melanomas. The C-terminal alternatively spliced exon B is present in the p120ctn transcripts in the colon, intestine and prostate, but lost in several tumor tissues derived from these organs.
genes like me logo Genes that share expression patterns with CTNND1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CTNND1 Gene

Orthologs for CTNND1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTNND1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTNND1 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia ZDHHC5 35
  • 98 (a)
OneToOne
CTNND1 34
  • 93.83 (n)
oppossum
(Monodelphis domestica)
Mammalia CTNND1 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctnnd1 34
  • 91.61 (n)
mouse
(Mus musculus)
Mammalia Ctnnd1 34 16 35
  • 90.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CTNND1 34 35
  • 87.99 (n)
chicken
(Gallus gallus)
Aves CTNND1 34 35
  • 78.05 (n)
lizard
(Anolis carolinensis)
Reptilia CTNND1 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnd1 34
  • 60.46 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334714 34
  • 62.72 (n)
ctnnd1 35 35
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 36 35
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea jac-1 36 35
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
Species where no ortholog for CTNND1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTNND1 Gene

ENSEMBL:
Gene Tree for CTNND1 (if available)
TreeFam:
Gene Tree for CTNND1 (if available)

Paralogs for CTNND1 Gene

Paralogs for CTNND1 Gene

(6) SIMAP similar genes for CTNND1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CTNND1: view

Variants for CTNND1 Gene

Sequence variations from dbSNP and Humsavar for CTNND1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10444364 -- 57,761,194(+) AGATC(A/G)CACCA intron-variant, upstream-variant-2KB
rs10444365 -- 57,761,298(+) CCTCA(A/G)ATATC intron-variant, upstream-variant-2KB
rs1057299 -- 57,817,306(+) AACTA(A/T)AGGAC nc-transcript-variant, utr-variant-3-prime
rs1057318 -- 57,817,618(+) GATTT(G/T)GCAAA nc-transcript-variant, utr-variant-3-prime
rs1057428 -- 57,818,002(+) CCCCT(C/T)TACTC nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CTNND1 Gene

Variant ID Type Subtype PubMed ID
nsv1070037 CNV deletion 25765185
nsv1136036 CNV deletion 24896259
nsv1153289 CNV deletion 26484159
nsv327 CNV deletion 18451855
nsv508633 CNV deletion 20534489
nsv832164 CNV loss 17160897
nsv975931 CNV duplication 23825009

Variation tolerance for CTNND1 Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTNND1 Gene

Human Gene Mutation Database (HGMD)
CTNND1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNND1 Gene

Disorders for CTNND1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CTNND1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pulmonary sclerosing hemangioma
  • pneumocytoma
sclerosing hemangioma
  • cutaneous fibrous histiocytoma
colon adenocarcinoma
  • adenocarcinoma of colon
epithelial malignant thymoma
  • squamoid thymoma
hemangioma of lung
  • pulmonary hemangioma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CTNND1

Tumor Gene Database (TGDB):
CTNND1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTNND1
genes like me logo Genes that share disorders with CTNND1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTNND1 Gene

Publications for CTNND1 Gene

  1. Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion. (PMID: 20371349) Ishiyama N. … Ikura M. (Cell 2010) 3 4 22 64
  2. The transcriptional repressor Glis2 is a novel binding partner for p120 catenin. (PMID: 17344476) Hosking C.R. … Fujita Y. (Mol. Biol. Cell 2007) 3 4 22 64
  3. Laminar shear stress differentially modulates gene expression of p120 catenin, Kaiso transcription factor, and vascular endothelial cadherin in human coronary artery endothelial cells. (PMID: 14699141) Kondapalli J. … Albuquerque M.L.C. (J. Biol. Chem. 2004) 3 4 22 64
  4. Molecular cloning of the human p120ctn catenin gene (CTNND1): expression of multiple alternatively spliced isoforms. (PMID: 9653641) Keirsebilck A. … van Roy F. (Genomics 1998) 3 4 22 64
  5. The gene encoding p120cas, a novel catenin, localizes on human chromosome 11q11 (CTNND) and mouse chromosome 2 (Catns). (PMID: 8808291) Reynolds A.B. … Daniel J.M. (Genomics 1996) 2 3 22 64

Products for CTNND1 Gene

Sources for CTNND1 Gene