ENSG00000078246


Homo sapiens

Features
Gene ID: ENSG00000078246
  
Biological name :TULP3
  
Synonyms : O75386 / tubby like protein 3 / TULP3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p13.33
Gene start: 2877223
Gene end: 2941140
  
Corresponding Affymetrix probe sets: 205854_at (Human Genome U133 Plus 2.0 Array)   221964_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000442631
Ensembl peptide - ENSP00000444110
Ensembl peptide - ENSP00000380321
Ensembl peptide - ENSP00000410051
Ensembl peptide - ENSP00000437899
Ensembl peptide - ENSP00000440364
Ensembl peptide - ENSP00000441319
Ensembl peptide - ENSP00000441599
NCBI entrez gene - 7289     See in Manteia.
OMIM - 604730
RefSeq - NM_003324
RefSeq - NM_001160408
RefSeq Peptide - NP_001153880
RefSeq Peptide - NP_003315
swissprot - F5GWL5
swissprot - O75386
swissprot - F5H7B9
swissprot - H0YFU8
swissprot - H0YG12
Ensembl - ENSG00000078246
  
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
 zmp:0000000711ENSDARG00000063672Danio rerio
 TULP3ENSGALG00000013424Gallus gallus
 Tulp3ENSMUSG00000001521Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TUB / P50607 / tubby bipartite transcription factorENSG0000016640248
TULP1 / O00294 / tubby like protein 1ENSG0000011204139
TULP2 / O00295 / tubby like protein 2ENSG0000010480434
TULP4 / Q9NRJ4 / tubby like protein 4ENSG0000013033823
WDR35 / Q9P2L0 / WD repeat domain 35ENSG0000011896518


Protein motifs (from Interpro)
Interpro ID Name
 IPR000007  Tubby, C-terminal
 IPR005398  Tubby, N-terminal
 IPR018066  Tubby, C-terminal, conserved site
 IPR025659  Tubby-like, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001841 neural tube formation IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated NAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway NAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0008277 regulation of G-protein coupled receptor protein signaling pathway IDA
 biological_processGO:0008589 regulation of smoothened signaling pathway IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0021904 dorsal/ventral neural tube patterning IEA
 biological_processGO:0021914 negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning IEA
 biological_processGO:0021915 neural tube development IEA
 biological_processGO:0021953 central nervous system neuron differentiation IEA
 biological_processGO:0031076 embryonic camera-type eye development IEA
 biological_processGO:0042733 embryonic digit morphogenesis IEA
 biological_processGO:0045879 negative regulation of smoothened signaling pathway IEA
 biological_processGO:0048702 embryonic neurocranium morphogenesis IEA
 biological_processGO:0060173 limb development IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060434 bronchus morphogenesis IEA
 biological_processGO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
 biological_processGO:0061548 ganglion development IEA
 biological_processGO:0097500 receptor localization to non-motile cilium IBA
 biological_processGO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
 biological_processGO:1903546 protein localization to photoreceptor outer segment IBA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005634 nucleus NAS
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0005929 cilium TAS
 cellular_componentGO:0005930 axoneme IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030991 intraciliary transport particle A IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097546 ciliary base IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding NAS
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0035091 phosphatidylinositol binding IDA
 molecular_functionGO:0044877 protein-containing complex binding IDA


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
 ENSG00000187535 IFT140 / Q96RY7 / intraflagellar transport 140  / complex / reaction
 ENSG00000163913 IFT122 / Q9HBG6 / intraflagellar transport 122  / reaction / complex
 ENSG00000157796 WDR19 / Q8NEZ3 / WD repeat domain 19  / reaction / complex
 ENSG00000123607 Q7Z4L5 / TTC21B / tetratricopeptide repeat domain 21B  / reaction / complex
 ENSG00000118965 WDR35 / Q9P2L0 / WD repeat domain 35  / complex / reaction
 ENSG00000143147 GPR161 / Q8N6U8 / G protein-coupled receptor 161  / complex / reaction






 

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