ENSG00000114446


Homo sapiens

Features
Gene ID: ENSG00000114446
  
Biological name :IFT57
  
Synonyms : IFT57 / intraflagellar transport 57 / Q9NWB7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q13.13
Gene start: 108160812
Gene end: 108222570
  
Corresponding Affymetrix probe sets: 218100_s_at (Human Genome U133 Plus 2.0 Array)   222519_s_at (Human Genome U133 Plus 2.0 Array)   222520_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000264538
Ensembl peptide - ENSP00000417768
Ensembl peptide - ENSP00000417439
NCBI entrez gene - 55081     See in Manteia.
OMIM - 606621
RefSeq - NM_018010
RefSeq Peptide - NP_060480
swissprot - C9JB84
swissprot - F8WBM2
swissprot - Q9NWB7
Ensembl - ENSG00000114446
  
Related genetic diseases (OMIM): 617927 - ?Orofaciodigital syndrome XVIII, 617927
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
 ift57ENSDARG00000021022Danio rerio
 IFT57ENSGALG00000015356Gallus gallus
 Ift57ENSMUSG00000032965Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR019530  Intra-flagellar transport protein 57


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006915 apoptotic process IDA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0007224 smoothened signaling pathway IEA
 biological_processGO:0035735 intraciliary transport involved in cilium assembly TAS
 biological_processGO:0042073 intraciliary transport IBA
 biological_processGO:0042981 regulation of apoptotic process IDA
 biological_processGO:0044458 motile cilium assembly IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0060271 cilium assembly IBA
 biological_processGO:0060972 left/right pattern formation IEA
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IBA
 cellular_componentGO:0005930 axoneme IEA
 cellular_componentGO:0030992 intraciliary transport particle B IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IEA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0044292 dendrite terminus IEA
 cellular_componentGO:0097542 ciliary tip TAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Hedgehog off state
Intraflagellar transport


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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