ENSG00000164066


Homo sapiens

Features
Gene ID: ENSG00000164066
  
Biological name :INTU
  
Synonyms : INTU / inturned planar cell polarity protein / Q9ULD6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q28.1
Gene start: 127623271
Gene end: 127726737
  
Corresponding Affymetrix probe sets: 228946_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427150
Ensembl peptide - ENSP00000426171
Ensembl peptide - ENSP00000426287
Ensembl peptide - ENSP00000334003
Ensembl peptide - ENSP00000421995
Ensembl peptide - ENSP00000422550
NCBI entrez gene - 27152     See in Manteia.
OMIM - 610621
RefSeq - XM_017008025
RefSeq - XM_011531845
RefSeq - XM_011531846
RefSeq - XM_011531847
RefSeq - XM_011531848
RefSeq - XM_011531849
RefSeq - NM_015693
RefSeq - XM_011531844
RefSeq Peptide - NP_056508
swissprot - H0YAI1
swissprot - J3QTA5
swissprot - H0YA54
swissprot - Q9ULD6
Ensembl - ENSG00000164066
  
Related genetic diseases (OMIM): 617925 - ?Short-rib throacic dysplasia 20 with polydactyly, 617925
  617926 - ?Orofaciodigital syndrome XVII, 617926
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
 intuENSDARG00000077639Danio rerio
 INTUENSGALG00000010170Gallus gallus
 IntuENSMUSG00000060798Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development ISS
 biological_processGO:0008589 regulation of smoothened signaling pathway ISS
 biological_processGO:0010839 negative regulation of keratinocyte proliferation IEA
 biological_processGO:0021513 spinal cord dorsal/ventral patterning IEA
 biological_processGO:0021915 neural tube development IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030216 keratinocyte differentiation IEA
 biological_processGO:0030278 regulation of ossification IEA
 biological_processGO:0031069 hair follicle morphogenesis IEA
 biological_processGO:0042733 embryonic digit morphogenesis IEA
 biological_processGO:0044458 motile cilium assembly IEA
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IEA
 biological_processGO:0051782 negative regulation of cell division IEA
 biological_processGO:0060173 limb development ISS
 biological_processGO:0060271 cilium assembly ISS
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0031514 motile cilium IDA
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Hedgehog off state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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