CTNND1
entrez
1500
canonical
uniprot
O60716
canonical
ensembl
ENSG00000198561
resolver
ensp
ENSP00000351527
resolver
ensp
ENSP00000354785
resolver
ensp
ENSP00000354823
resolver
ensp
ENSP00000354907
resolver
ensp
ENSP00000382004
resolver
ensp
ENSP00000403518
resolver
ensp
ENSP00000409930
resolver
ensp
ENSP00000413586
resolver
ensp
ENSP00000432075
resolver
ensp
ENSP00000432243
resolver
ensp
ENSP00000433276
resolver
ensp
ENSP00000433334
resolver
ensp
ENSP00000434017
resolver
ensp
ENSP00000434949
resolver
ensp
ENSP00000435266
resolver
ensp
ENSP00000435379
resolver
ensp
ENSP00000435494
resolver
ensp
ENSP00000436323
resolver
ensp
ENSP00000436744
resolver
ensp
ENSP00000437156
resolver
ensp
ENSP00000437327
resolver
ensp
ENSP00000571476
resolver
genesymbol
CTNND1
resolver
genesymbol_syn
KIAA0384
resolver
hgnc
HGNC:2515
resolver
uniprot
A8K939
resolver
uniprot
O15088
resolver
uniprot
O60713
resolver
uniprot
O60714
resolver
uniprot
O60715
resolver
uniprot
O60935
resolver
uniprot
Q6DHZ7
resolver
uniprot
Q6RBX8
resolver
uniprot
Q9UP71
resolver
uniprot
Q9UP72
resolver
uniprot
Q9UP73
resolver
uniprot_entry
CTND1_HUMAN
resolver
uniprot_sec
A8K939
resolver
uniprot_sec
O15088
resolver
uniprot_sec
O60713
resolver
uniprot_sec
O60714
resolver
uniprot_sec
O60715
resolver
uniprot_sec
O60935
resolver
uniprot_sec
Q6DHZ7
resolver
uniprot_sec
Q6RBX8
resolver
uniprot_sec
Q9UP71
resolver
uniprot_sec
Q9UP72
resolver
uniprot_sec
Q9UP73
resolver
amino_acid_sequence
MDDSEVESTASILASVKEQEAQFEKLTRALEEERRHVSAQLERVRVSPQDANPLMANGTLTRRHQNGRFVGDADLERQKFSDLKLNGPQDHSHLLYSTIPRMQEPGQIVETYTEEDPEGAMSVVSVETSDDGTTRRTETTVKKVVKTVTTRTVQPVAMGPDGLPVDASSVSNNYIQTLGRDFRKNGNGGPGPYVGQAGTATLPRNFHYPPDGYSRHYEDGYPGGSDNYGSLSRVTRIEERYRPSMEGYRAPSRQDVYGPQPQVRVGGSSVDLHRFHPEPYGLEDDQRSMGYDDLDYGMMSDYGTARRTGTPSDPRRRLRSYEDMIGEEVPSDQYYWAPLAQHERGSLASLDSLRKGGPPPPNWRQPELPEVIAMLGFRLDAVKSNAAAYLQHLCYRNDKVKTDVRKLKGIPVLVGLLDHPKKEVHLGACGALKNISFGRDQDNKIAIKNCDGVPALVRLLRKARDMDLTEVITGTLWNLSSHDSIKMEIVDHALHALTDEVIIPHSGWEREPNEDCKPRHIEWESVLTNTAGCLRNVSSERSEARRKLRECDGLVDALIFIVQAEIGQKDSDSKLVENCVCLLRNLSYQVHREIPQAERYQEAAPNVANNTGPHAASCFGAKKGKDEWFSRGKKPIEDPANDTVDFPKRTSPARGYELLFQPEVVRIYISLLKESKTPAILEASAGAIQNLCAGRWTYGRYIRSALRQEKALSAIADLLTNEHERVVKAASGALRNLAVDARNKELIGKHAIPNLVKNLPGGQQNSSWNFSEDTVISILNTINEVIAENLEAAKKLRETQGIEKLVLINKSGNRSEKEVRAAALVLQTIWGYKELRKPLEKEGWKKSDFQVNLNNASRSQSSHSYDDSTLPLIDRNQKSDKKPDREEIQMSNMGSNTKSLDNNYSTPNERGDHNRTLDRSGDLGDMEPLKGTTPLMQDEGQESLEEELDVLVLDDEGGQVSYPSMQKI
uniprot
proteins
disease_involvement
DISEASE: Blepharocheilodontic syndrome 2 (BCDS2) [MIM:617681]: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269|PubMed:28301459}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability (PubMed:14610055, PubMed:20371349). Promotes localization and retention of DSG3 at cell-cell junctions, via its interaction with DSG3 (PubMed:18343367). Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics (PubMed:10207085, PubMed:20371349). Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors (PubMed:17344476). {ECO:0000269|PubMed:10207085, ECO:0000269|PubMed:14610055, ECO:0000269|PubMed:17344476, ECO:0000269|PubMed:18343367, ECO:0000269|PubMed:20371349}.
uniprot
proteins
mass_dalton
108170
uniprot
proteins
mutagenesis
MUTAGEN 363; /note="W->A: Severely disrupts cadherin interaction."; /evidence="ECO:0000269|PubMed:20371349"; MUTAGEN 401; /note="K->M: Complete loss of cadherin interaction."; /evidence="ECO:0000269|PubMed:20371349"; MUTAGEN 444; /note="K->M: Severely disrupts cadherin interaction."; /evidence="ECO:0000269|PubMed:20371349"; MUTAGEN 477; /note="W->A: Severely disrupts cadherin interaction."; /evidence="ECO:0000269|PubMed:20371349"; MUTAGEN 478; /note="N->A: Complete loss of cadherin interaction."; /evidence="ECO:0000269|PubMed:20371349
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK5. Dephosphorylated by PTPRJ. {ECO:0000269|PubMed:12370829, ECO:0000269|PubMed:17194753, ECO:0000269|PubMed:20564219, ECO:0000269|PubMed:7623846}.
uniprot
proteins
protein_family
Beta-catenin family
uniprot
proteins
pubmed
10207085
uniprot
proteins
pubmed
11896187
uniprot
proteins
pubmed
12370829
uniprot
proteins
pubmed
14610055
uniprot
proteins
pubmed
14699141
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15240885
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17047063
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17115030
uniprot
proteins
pubmed
17194753
uniprot
proteins
pubmed
17344476
uniprot
proteins
pubmed
17487921
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18343367
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20123964
uniprot
proteins
pubmed
20371349
uniprot
proteins
pubmed
20564219
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25009281
uniprot
proteins
pubmed
28051089
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28301459
uniprot
proteins
pubmed
7623846
uniprot
proteins
pubmed
9205841
uniprot
proteins
pubmed
9653641
uniprot
proteins
sequence_length
968
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000269|PubMed:11896187}. Cytoplasm {ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:17047063}. Nucleus {ECO:0000269|PubMed:11896187, ECO:0000269|PubMed:17115030}. Cell membrane {ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:17047063}. Cell junction {ECO:0000269|PubMed:18343367}. Note=Interaction with GLIS2 promotes nuclear translocation (By similarity). Detected at cell-cell contacts (PubMed:15240885, PubMed:17047063). NANOS1 induces its translocation from sites of cell-cell contact to the cytoplasm (PubMed:17047063). CDH1 enhances cell membrane localization (PubMed:15240885). Localizes to cell-cell contacts as keratinocyte differentiation progresses (By similarity). {ECO:0000250|UniProtKB:P30999, ECO:0000269|PubMed:11896187, ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:17047063}.; SUBCELLULAR LOCATION: [Isoform 1A]: Nucleus {ECO:0000269|PubMed:11896187}.; SUBCELLULAR LOCATION: [Isoform 2A]: Nucleus {ECO:0000269|PubMed:11896187}.; SUBCELLULAR LOCATION: [Isoform 3A]: Nucleus {ECO:0000269|PubMed:11896187}.; SUBCELLULAR LOCATION: [Isoform 4A]: Cytoplasm {ECO:0000269|PubMed:11896187}.; SUBCELLULAR LOCATION: [Isoform 1AB]: Cytoplasm {ECO:0000269|PubMed:11896187}.
uniprot
proteins