Human Gene CTNND1 (ENST00000532787.5) from GENCODE V44
  Description: Homo sapiens catenin delta 1 (CTNND1), transcript variant 9, mRNA. (from RefSeq NM_001085465)
RefSeq Summary (NM_001085465): 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].
Gencode Transcript: ENST00000532787.5
Gencode Gene: ENSG00000198561.16
Transcript (Including UTRs)
   Position: hg38 chr11:57,761,797-57,819,178 Size: 57,382 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr11:57,795,613-57,816,308 Size: 20,696 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:57,761,797-57,819,178)mRNA (may differ from genome)Protein (840 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CTND1_HUMAN
DESCRIPTION: RecName: Full=Catenin delta-1; AltName: Full=Cadherin-associated Src substrate; Short=CAS; AltName: Full=p120 catenin; Short=p120(ctn); AltName: Full=p120(cas);
FUNCTION: Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). May associate with and regulate the cell adhesion properties of both C- and E-cadherins. 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.
SUBUNIT: Belongs to a multiprotein cell-cell adhesion complex that also contains E-cadherin, alpha-catenin, beta-catenin, and gamma- catenin. Binds to the C-terminal fragment of PSEN1 and mutually competes for E-cadherin. Interacts with ZBTB33. Interacts with GLIS2. Interacts with NANOS1 (via N-terminal region). Interacts with FER.
INTERACTION: P09803:Cdh1 (xeno); NbExp=3; IntAct=EBI-702059, EBI-984420;
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Expressed in vascular endothelium.
INDUCTION: Induced in vascular endothelium by wounding. This effect is potentiated by prior laminar shear stress, which enhances wound closure.
DOMAIN: A possible nuclear localization signal exists in all isoforms where Asp-626--631-Arg are deleted.
PTM: Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK7/PAK5. Dephosphorylated by PTPRJ.
SIMILARITY: Belongs to the beta-catenin family.
SIMILARITY: Contains 10 ARM repeats.
SEQUENCE CAUTION: Sequence=BAA20838.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ctnnd1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CTNND1
Diseases sorted by gene-association score: pulmonary sclerosing hemangioma (10), sclerosing hemangioma (8), colon adenocarcinoma (7), sarcomatoid renal cell carcinoma (7), hemangioma of lung (6), epithelial malignant thymoma (6), cardiomyopathy, dilated, 1e (5), lung cancer (2), prostate cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 102.01 RPKM in Esophagus - Mucosa
Total median expression: 1795.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.80358-0.270 Picture PostScript Text
3' UTR -749.902870-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000225 - Armadillo

Pfam Domains:
PF00514 - Armadillo/beta-catenin-like repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3L6X - X-ray MuPIT 3L6Y - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O60716
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0045296 cadherin binding
GO:0050839 cell adhesion molecule binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007155 cell adhesion
GO:0007420 brain development
GO:0016055 Wnt signaling pathway
GO:0034332 adherens junction organization
GO:0035635 entry of bacterium into host cell
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005915 zonula adherens
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0030426 growth cone
GO:0030496 midbody
GO:0043197 dendritic spine
GO:0045202 synapse
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB002382 - Homo sapiens mRNA for KIAA0384 gene.
AK292554 - Homo sapiens cDNA FLJ75502 complete cds, highly similar to Homo sapiens catenin (cadherin-associated protein), delta 1, mRNA.
CR749275 - Homo sapiens mRNA; cDNA DKFZp781O2021 (from clone DKFZp781O2021).
AF062317 - Homo sapiens p120 catenin isoform 1B (CTNND1) mRNA, alternatively spliced, complete cds.
AF062318 - Homo sapiens p120 catenin isoform 4AC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062319 - Homo sapiens p120 catenin isoform 2ABC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062320 - Homo sapiens p120 catenin isoform 2AC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062321 - Homo sapiens p120 catenin isoform 1AC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062322 - Homo sapiens p120 catenin isoform 2AB (CTNND1) mRNA, alternatively spliced, complete cds.
AF062323 - Homo sapiens p120 catenin isoform 3ABC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062324 - Homo sapiens p120 catenin isoform 1A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062325 - Homo sapiens p120 catenin isoform 2B (CTNND1) mRNA, alternatively spliced, complete cds.
AF062326 - Homo sapiens p120 catenin isoform 4AB (CTNND1) mRNA, alternatively spliced, complete cds.
AF062327 - Homo sapiens p120 catenin isoform 2A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062328 - Homo sapiens p120 catenin isoform 1AB (CTNND1) mRNA, alternatively spliced, complete cds.
AF062329 - Homo sapiens p120 catenin isoform 2A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062330 - Homo sapiens p120 catenin isoform 3A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062331 - Homo sapiens p120 catenin isoform 2A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062332 - Homo sapiens p120 catenin isoform 3B (CTNND1) mRNA, alternatively spliced, complete cds.
AF062333 - Homo sapiens p120 catenin isoform 4A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062334 - Homo sapiens p120 catenin isoform 3A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062335 - Homo sapiens p120 catenin isoform 3A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062336 - Homo sapiens p120 catenin isoform 3A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062337 - Homo sapiens p120 catenin isoform 3AC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062338 - Homo sapiens p120 catenin isoform 3AB (CTNND1) mRNA, alternatively spliced, complete cds.
AF062339 - Homo sapiens p120 catenin isoform 1A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062340 - Homo sapiens p120 catenin isoform 4A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062341 - Homo sapiens p120 catenin isoform 1ABC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062342 - Homo sapiens p120 catenin isoform 4ABC (CTNND1) mRNA, alternatively spliced, complete cds.
AF062343 - Homo sapiens p120 catenin isoform 1A (CTNND1) mRNA, alternatively spliced, complete cds.
AF062344 - Homo sapiens p120 catenin isoform 4B (CTNND1) mRNA, alternatively spliced, complete cds.
BC075795 - Homo sapiens catenin (cadherin-associated protein), delta 1, mRNA (cDNA clone MGC:87286 IMAGE:5269008), complete cds.
AB385320 - Synthetic construct DNA, clone: pF1KA0384, Homo sapiens CTNND1 gene for catenin delta-1, complete cds, without stop codon, in Flexi system.
BC010501 - Homo sapiens catenin (cadherin-associated protein), delta 1, mRNA (cDNA clone IMAGE:3450203), partial cds.
KJ901366 - Synthetic construct Homo sapiens clone ccsbBroadEn_10760 CTNND1 gene, encodes complete protein.
CU679729 - Synthetic construct Homo sapiens gateway clone IMAGE:100023475 5' read CTNND1 mRNA.
BT007333 - Homo sapiens catenin (cadherin-associated protein), delta 1 mRNA, complete cds.
KJ806762 - Homo sapiens clone pSCaP_33.6_T7 satellite sequence.
JD281344 - Sequence 262368 from Patent EP1572962.
JD308850 - Sequence 289874 from Patent EP1572962.
JD062366 - Sequence 43390 from Patent EP1572962.
JD563064 - Sequence 544088 from Patent EP1572962.
JD318823 - Sequence 299847 from Patent EP1572962.
JD558091 - Sequence 539115 from Patent EP1572962.
JD397618 - Sequence 378642 from Patent EP1572962.
JD555005 - Sequence 536029 from Patent EP1572962.
JD120323 - Sequence 101347 from Patent EP1572962.
JD270022 - Sequence 251046 from Patent EP1572962.
JD534169 - Sequence 515193 from Patent EP1572962.
JD307313 - Sequence 288337 from Patent EP1572962.
Z36799 - H.sapiens (xs148) mRNA, 250bp.
JD120222 - Sequence 101246 from Patent EP1572962.
JD453907 - Sequence 434931 from Patent EP1572962.
JD240700 - Sequence 221724 from Patent EP1572962.
JD111199 - Sequence 92223 from Patent EP1572962.
JD253550 - Sequence 234574 from Patent EP1572962.
JD555011 - Sequence 536035 from Patent EP1572962.
JD433160 - Sequence 414184 from Patent EP1572962.
JD439765 - Sequence 420789 from Patent EP1572962.
JD305951 - Sequence 286975 from Patent EP1572962.
JD159768 - Sequence 140792 from Patent EP1572962.
JD295980 - Sequence 277004 from Patent EP1572962.
JD040599 - Sequence 21623 from Patent EP1572962.
JD549221 - Sequence 530245 from Patent EP1572962.
JD326346 - Sequence 307370 from Patent EP1572962.
JD403741 - Sequence 384765 from Patent EP1572962.
JD553807 - Sequence 534831 from Patent EP1572962.
JD172488 - Sequence 153512 from Patent EP1572962.
JD075604 - Sequence 56628 from Patent EP1572962.
JD145511 - Sequence 126535 from Patent EP1572962.
JD239577 - Sequence 220601 from Patent EP1572962.
JD330039 - Sequence 311063 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04520 - Adherens junction
hsa04670 - Leukocyte transendothelial migration

Reactome (by CSHL, EBI, and GO)

Protein O60716 (Reactome details) participates in the following event(s):

R-HSA-419002 Interaction of cadherin with Beta/gamma catenin, alpha catenin and p120 catenin
R-HSA-8876993 CBLL1 binds SRC-phosphorylated CDH1 complex
R-HSA-5357477 PAK1-3 phosphorylates VE-cadherin
R-HSA-8876497 InlA binds CDH1
R-HSA-418990 Adherens junctions interactions
R-HSA-8876493 InlA-mediated entry of Listeria monocytogenes into host cells
R-HSA-5218920 VEGFR2 mediated vascular permeability
R-HSA-421270 Cell-cell junction organization
R-HSA-8876384 Listeria monocytogenes entry into host cells
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-446728 Cell junction organization
R-HSA-5663205 Infectious disease
R-HSA-194138 Signaling by VEGF
R-HSA-1500931 Cell-Cell communication
R-HSA-1643685 Disease
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K939, CTND1_HUMAN, ENST00000532787.1, ENST00000532787.2, ENST00000532787.3, ENST00000532787.4, KIAA0384, NM_001085465, O15088, O60713, O60714, O60715, O60716, O60935, Q6DHZ7, Q6RBX8, Q9UP71, Q9UP72, Q9UP73, uc001nls.1, uc001nls.2, uc001nls.3, uc001nls.4, uc001nls.5
UCSC ID: ENST00000532787.5
RefSeq Accession: NM_001085465
Protein: O60716 (aka CTND1_HUMAN or CTD1_HUMAN)
CCDS: CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.