ENSG00000096872


Homo sapiens
transportciliumIFT74celldevelopmentregulationintraciliaryassemblybindingintraflagellarproteinprojectionkeratinocytenotchsignalingpathwaydeterminationleftrightsymmetryheartepidermisorganizationadhesionmediatedintegrininvolvedtranscriptionrnapolymeraseii

Features
Gene ID: ENSG00000096872
  
Biological name :IFT74
  
Synonyms : IFT74 / intraflagellar transport 74 / Q96LB3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: p21.2
Gene start: 26947039
Gene end: 27062930
  
Corresponding Affymetrix probe sets: 219174_at (Human Genome U133 Plus 2.0 Array)   61732_r_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000393907
Ensembl peptide - ENSP00000404122
Ensembl peptide - ENSP00000430742
Ensembl peptide - ENSP00000430526
Ensembl peptide - ENSP00000430096
Ensembl peptide - ENSP00000430004
Ensembl peptide - ENSP00000369402
Ensembl peptide - ENSP00000389224
NCBI entrez gene - 80173     See in Manteia.
OMIM - 608040
RefSeq - NM_025103
RefSeq - XM_017015163
RefSeq - XM_011518036
RefSeq - XM_011518035
RefSeq - NM_001099222
RefSeq - NM_001099223
RefSeq - NM_001099224
RefSeq Peptide - NP_001092692
RefSeq Peptide - NP_001092693
RefSeq Peptide - NP_001092694
RefSeq Peptide - NP_079379
swissprot - E5RIF0
swissprot - Q96LB3
swissprot - E5RJK3
swissprot - E5RGX6
swissprot - E5RH29
Ensembl - ENSG00000096872
  
Related genetic diseases (OMIM): 617119 - ?Bardet-Biedl syndrome 20, 617119
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
 ift74ENSDARG00000023495Danio rerio
 IFT74ENSGALG00000001801Gallus gallus
 Ift74ENSMUSG00000028576Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR029602  Intraflagellar transport protein 74


Gene Ontology (GO)
anatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomical structure developmentcellular developmental processcell communicationcellular response to stimuluscellular component organizationcell adhesioncellular component biogenesisestablishment of localizationmovement of cell or subcellular componentcellular localizationmicrotubule-based processprotein-containing complex localizationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processepithelial cell proliferationanatomianatomical structure developmentcellulacellular developmental processcell cocell communicationcellulacellular response to stimuluscellulacellular component organizationcell adcell adhesioncellulacellular component biogenesisestabliestablishment of localizationmovemenmovement of cell or subcellular componentcellulacellular localizationmicrotumicrotubule-based processproteinprotein-containing complex localizationnitrogenitrogen compound metabolic processbiosyntbiosynthetic processcellulacellular metabolic processprimaryprimary metabolic processorganicorganic substance metabolic processepithelepithelial cell proliferation
chromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingprotein bindingchromatin bindingchromatin bindingprotein bindingprotein binding
cellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellcellorganelleorganelleprotein-containing complexprotein-containing complex
TypeGO IDTermEv.Code
 biological_processGO:0003334 keratinocyte development IEA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0007368 determination of left/right symmetry IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008544 epidermis development IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0033630 positive regulation of cell adhesion mediated by integrin IEA
 biological_processGO:0035735 intraciliary transport involved in cilium assembly IMP
 biological_processGO:0042073 intraciliary transport IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005813 centrosome IBA
 cellular_componentGO:0005929 cilium IBA
 cellular_componentGO:0030992 intraciliary transport particle B IBA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031514 motile cilium ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097542 ciliary tip TAS
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0048487 beta-tubulin binding IDA


Pathways (from Reactome)
Pathway description
Intraflagellar transport


Phenotype (from MGI, Zfin or HPO)
Autosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recessive inheritanceGenitourinary abnormalityEndocrine abnormalityAbnormality of the musculoskeletal systemHead and neck abnormalityNeurological abnormalityAbnormality of the eyesGrowth abnormalityAbnormality of limbsAutosomal recesAutosomal recessive inheritanceGenitourinary aGenitourinary abnormalityEndocrine abnorEndocrine abnormalityAbnormality of Abnormality of the musculoskeletal systemHead and neck aHead and neck abnormalityNeurological abNeurological abnormalityAbnormality of Abnormality of the eyesGrowth abnormalGrowth abnormalityAbnormality of Abnormality of limbs
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000510 Retinitis pigmentosa "Hereditary degeneration and atrophy of the retina." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0010442 Polydactyly 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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