ENSG00000198561


Homo sapiens

Features
Gene ID: ENSG00000198561
  
Biological name :CTNND1
  
Synonyms : catenin delta 1 / CTNND1 / O60716
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q12.1
Gene start: 57753243
Gene end: 57819546
  
Corresponding Affymetrix probe sets: 1557944_s_at (Human Genome U133 Plus 2.0 Array)   208407_s_at (Human Genome U133 Plus 2.0 Array)   208862_s_at (Human Genome U133 Plus 2.0 Array)   211240_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435789
Ensembl peptide - ENSP00000435494
Ensembl peptide - ENSP00000436323
Ensembl peptide - ENSP00000437327
Ensembl peptide - ENSP00000437156
Ensembl peptide - ENSP00000437051
Ensembl peptide - ENSP00000436744
Ensembl peptide - ENSP00000436543
Ensembl peptide - ENSP00000351527
Ensembl peptide - ENSP00000354785
Ensembl peptide - ENSP00000354823
Ensembl peptide - ENSP00000354907
Ensembl peptide - ENSP00000382004
Ensembl peptide - ENSP00000403518
Ensembl peptide - ENSP00000409930
Ensembl peptide - ENSP00000413586
Ensembl peptide - ENSP00000431208
Ensembl peptide - ENSP00000431600
Ensembl peptide - ENSP00000432041
Ensembl peptide - ENSP00000432075
Ensembl peptide - ENSP00000432243
Ensembl peptide - ENSP00000432299
Ensembl peptide - ENSP00000432623
Ensembl peptide - ENSP00000433158
Ensembl peptide - ENSP00000433276
Ensembl peptide - ENSP00000433334
Ensembl peptide - ENSP00000434017
Ensembl peptide - ENSP00000434202
Ensembl peptide - ENSP00000434672
Ensembl peptide - ENSP00000434808
Ensembl peptide - ENSP00000434900
Ensembl peptide - ENSP00000434949
Ensembl peptide - ENSP00000435242
Ensembl peptide - ENSP00000435266
Ensembl peptide - ENSP00000435379
NCBI entrez gene - 1500     See in Manteia.
OMIM - 601045
RefSeq - NM_001085469
RefSeq - NM_001085458
RefSeq - NM_001085459
RefSeq - NM_001085460
RefSeq - NM_001085461
RefSeq - NM_001085462
RefSeq - NM_001085463
RefSeq - NM_001085464
RefSeq - NM_001085465
RefSeq - NM_001085466
RefSeq - NM_001085467
RefSeq - NM_001085468
RefSeq - NM_001206883
RefSeq - NM_001206884
RefSeq - NM_001206885
RefSeq - NM_001206886
RefSeq - NM_001206887
RefSeq - NM_001206888
RefSeq - NM_001206889
RefSeq - NM_001206890
RefSeq - NM_001206891
RefSeq - NM_001331
RefSeq Peptide - NP_001193815
RefSeq Peptide - NP_001193817
RefSeq Peptide - NP_001193818
RefSeq Peptide - NP_001193819
RefSeq Peptide - NP_001193820
RefSeq Peptide - NP_001322
RefSeq Peptide - NP_001078935
RefSeq Peptide - NP_001078936
RefSeq Peptide - NP_001078937
RefSeq Peptide - NP_001078938
RefSeq Peptide - NP_001193812
RefSeq Peptide - NP_001193813
RefSeq Peptide - NP_001193814
RefSeq Peptide - NP_001193816
RefSeq Peptide - NP_001078927
RefSeq Peptide - NP_001078928
RefSeq Peptide - NP_001078929
RefSeq Peptide - NP_001078930
RefSeq Peptide - NP_001078931
RefSeq Peptide - NP_001078932
RefSeq Peptide - NP_001078933
RefSeq Peptide - NP_001078934
swissprot - O60716
swissprot - H0YC95
swissprot - A0A024R4Y7
swissprot - E9PRE2
swissprot - E9PKY0
swissprot - E9PKL1
swissprot - C9JZR2
swissprot - A0A024R4Z0
Ensembl - ENSG00000198561
  
Related genetic diseases (OMIM): 617681 - Blepharocheilodontic syndrome 2, 617681
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ctnnd1ENSDARG00000078233Danio rerio
 CTNND1ENSGALG00000007330Gallus gallus
 Ctnnd1ENSMUSG00000034101Mus musculus
 P30999ENSMUSG00000101645Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ARVCF / O00192 / ARVCF, delta catenin family memberENSG0000009988946
CTNND2 / Q9UQB3 / catenin delta 2ENSG0000016986235
PKP4 / Q99569 / plakophilin 4ENSG0000014428334
PKP2 / Q99959 / plakophilin 2ENSG0000005729421
PKP3 / Q9Y446 / plakophilin 3ENSG0000018436319
PKP1 / Q13835 / plakophilin 1ENSG0000008127719


Protein motifs (from Interpro)
Interpro ID Name
 IPR000225  Armadillo
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR028435  Plakophilin/Delta catenin
 IPR028439  Catenin delta-1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007155 cell adhesion NAS
 biological_processGO:0007420 brain development IEA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0034332 adherens junction organization TAS
 biological_processGO:0035635 entry of bacterium into host cell TAS
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IMP
 biological_processGO:0098609 cell-cell adhesion IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IMP
 cellular_componentGO:0005886 plasma membrane IMP
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005915 zonula adherens IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0043197 dendritic spine IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0045296 cadherin binding IEA
 molecular_functionGO:0050839 cell adhesion molecule binding IEA


Pathways (from Reactome)
Pathway description
Adherens junctions interactions
VEGFR2 mediated vascular permeability
InlA-mediated entry of Listeria monocytogenes into host cells


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000316 Hypertelorism 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000504 Abnormality of vision "Abnormality of eyesight (visual perception)." [HPO:curators]
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 HP:0000670 Carious teeth 
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 HP:0000698 Conical teeth 
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 HP:0002023 Anal atresia "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators]
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 HP:0002744 Bilateral cleft lip/palate "Cleft lip/palate affecting both sides of the face." [HPO:curators]
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0007651 Mildly everted lower eyelids 
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 HP:0009743 Distichiasis "Distichiasis refers to ouble rows of eyelashes." [HPO:curators]
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 HP:0011362 Abnormal hair quantity "An abnormal amount of hair." [DDD:cmoss]
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 HP:0012905 Euryblepharon "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [HPO:probinson, pmid:15249382, pmid:15530943, pmid:24719364]
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 HP:0200040 Skin cysts "The presence of one or more `cysts` (MPATH:62) of the `skin` (FMA:7163)." [HPO:skoehler]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000077264 PAK3 / O75914 / p21 (RAC1) activated kinase 3  / reaction
 ENSG00000149269 PAK1 / Q13153 / p21 (RAC1) activated kinase 1  / reaction
 ENSG00000179776 CDH5 / P33151 / cadherin 5  / complex
 ENSG00000180370 PAK2 / Q13177 / p21 (RAC1) activated kinase 2  / reaction
 ENSG00000173801 JUP / P14923 / junction plakoglobin  / complex / reaction
 ENSG00000105879 CBLL1 / Q75N03 / Cbl proto-oncogene like 1  / reaction
 ENSG00000044115 CTNNA1 / P35221 / catenin alpha 1  / reaction / complex
 ENSG00000039068 CDH1 / P12830 / cadherin 1  / complex
 ENSG00000168036 CTNNB1 / P35222 / catenin beta 1  / complex






 

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