• Gene id: 1500

Gene Summary

• Gene Symbol: CTNND1   Gene   UCSC   Ensembl
• Aliases: BCDS2, CAS, CTNND, P120CAS, P120CTN, p120, p120(CAS), p120(CTN)
• Gene name: catenin delta 1
• Alternate names: catenin delta-1, cadherin-associated Src substrate, catenin (cadherin-associated protein), delta 1, p120 catenin,
• Gene location: 11q12.1 (57761801: 57819539)     Exons: 21     NC_000011.10
• Gene summary(Entrez): 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 th
• OMIM: 601045

Protein Summary

• Protein general information: O60716  
  • Name: Catenin delta 1 (Cadherin associated Src substrate) (CAS) (p120 catenin) (p120(ctn)) (p120(cas))
  • Length: 968  
  • Mass: 108170
  • 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 me
• Sequence:

  MDDSEVESTASILASVKEQEAQFEKLTRALEEERRHVSAQLERVRVSPQDANPLMANGTLTRRHQNGRFVGDADL
  ERQKFSDLKLNGPQDHSHLLYSTIPRMQEPGQIVETYTEEDPEGAMSVVSVETSDDGTTRRTETTVKKVVKTVTT
  RTVQPVAMGPDGLPVDASSVSNNYIQTLGRDFRKNGNGGPGPYVGQAGTATLPRNFHYPPDGYSRHYEDGYPGGS
  DNYGSLSRVTRIEERYRPSMEGYRAPSRQDVYGPQPQVRVGGSSVDLHRFHPEPYGLEDDQRSMGYDDLDYGMMS
  DYGTARRTGTPSDPRRRLRSYEDMIGEEVPSDQYYWAPLAQHERGSLASLDSLRKGGPPPPNWRQPELPEVIAML
  GFRLDAVKSNAAAYLQHLCYRNDKVKTDVRKLKGIPVLVGLLDHPKKEVHLGACGALKNISFGRDQDNKIAIKNC
  DGVPALVRLLRKARDMDLTEVITGTLWNLSSHDSIKMEIVDHALHALTDEVIIPHSGWEREPNEDCKPRHIEWES
  VLTNTAGCLRNVSSERSEARRKLRECDGLVDALIFIVQAEIGQKDSDSKLVENCVCLLRNLSYQVHREIPQAERY
  QEAAPNVANNTGPHAASCFGAKKGKDEWFSRGKKPIEDPANDTVDFPKRTSPARGYELLFQPEVVRIYISLLKES
  KTPAILEASAGAIQNLCAGRWTYGRYIRSALRQEKALSAIADLLTNEHERVVKAASGALRNLAVDARNKELIGKH
  AIPNLVKNLPGGQQNSSWNFSEDTVISILNTINEVIAENLEAAKKLRETQGIEKLVLINKSGNRSEKEVRAAALV
  LQTIWGYKELRKPLEKEGWKKSDFQVNLNNASRSQSSHSYDDSTLPLIDRNQKSDKKPDREEIQMSNMGSNTKSL
  DNNYSTPNERGDHNRTLDRSGDLGDMEPLKGTTPLMQDEGQESLEEELDVLVLDDEGGQVSYPSMQKI

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000225  IPR028439  IPR028435  
  • Prosite: PS50176
  • PDB: 3L6X 3L6Y
  • PDBsum: 3L6X 3L6Y
  • DIP: 33850
  • STRING: ENSP00000382004
• Other Databases: GeneCards:  CTNND1  Malacards:  CTNND1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0045296	cadherin binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0005911	cell-cell junction	IBA	cellular component
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016342	catenin complex	IDA	cellular component
GO:0050821	protein stabilization	IMP	biological process
GO:0044331	cell-cell adhesion mediated by cadherin	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	IEA	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034332	adherens junction organization	TAS	biological process
GO:0035635	entry of bacterium into host cell	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098831	presynaptic active zone cytoplasmic component	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0005915	zonula adherens	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005829	cytosol	IMP	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005886	plasma membrane	IMP	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0045296	cadherin binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045296	cadherin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IMP	biological process
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IDA	biological process
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IDA	biological process
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04520	Adherens junction

Diseases

Associated diseases	References
oral squamous cell carcinoma	PMID:26464646
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq