ENSG00000122970


Homo sapiens

Features
Gene ID: ENSG00000122970
  
Biological name :IFT81
  
Synonyms : IFT81 / intraflagellar transport 81 / Q8WYA0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q24.11
Gene start: 110124335
Gene end: 110218797
  
Corresponding Affymetrix probe sets: 219372_at (Human Genome U133 Plus 2.0 Array)   223736_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449718
Ensembl peptide - ENSP00000446950
Ensembl peptide - ENSP00000449964
Ensembl peptide - ENSP00000242591
Ensembl peptide - ENSP00000355372
Ensembl peptide - ENSP00000446895
NCBI entrez gene - 28981     See in Manteia.
OMIM - 605489
RefSeq - XM_017019218
RefSeq - NM_001143779
RefSeq - NM_014055
RefSeq - NM_031473
RefSeq - XM_011538232
RefSeq - XM_017019217
RefSeq Peptide - NP_001334875
RefSeq Peptide - NP_054774
RefSeq Peptide - NP_113661
RefSeq Peptide - NP_001137251
swissprot - A0A024RBJ1
swissprot - Q8WYA0
swissprot - F8W1J4
swissprot - H0YHE2
swissprot - H0YIR4
Ensembl - ENSG00000122970
  
Related genetic diseases (OMIM): 617895 - Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
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
 ift81ENSDARG00000007444Danio rerio
 IFT81ENSGALG00000003854Gallus gallus
 Ift81ENSMUSG00000029469Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR029600  Intraflagellar transport protein 81


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007283 spermatogenesis ISS
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0035735 intraciliary transport involved in cilium assembly IMP
 biological_processGO:0042073 intraciliary transport IEA
 biological_processGO:0060271 cilium assembly IEA
 cellular_componentGO:0005813 centrosome IBA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0030992 intraciliary transport particle B IEA
 cellular_componentGO:0031514 motile cilium ISS
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097225 sperm midpiece IEA
 cellular_componentGO:0097228 sperm principal piece IEA
 cellular_componentGO:0097542 ciliary tip TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015631 tubulin binding IEA


Pathways (from Reactome)
Pathway description
Intraflagellar transport


Phenotype (from MGI, Zfin or HPO)
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]
Show

 HP:0000268 Dolichocephaly 
Show

 HP:0000269 Prominent occiput 
Show

 HP:0000343 Long philtrum 
Show

 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
Show

 HP:0000773 Short ribs 
Show

 HP:0000888 Short, horizontal ribs 
Show

 HP:0000946 Hypoplastic ilia 
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
Show

 HP:0002089 Pulmonary hypoplasia 
Show

 HP:0002098 Respiratory distress 
Show

 HP:0002878 Early respiratory failure 
Show

 HP:0002983 Micromelia 
Show

 HP:0002984 Hypoplasia of the radius "Underdevelopment of the radius." [HPO:curators]
Show

 HP:0004482 Relative macrocephaly "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators]
Show

 HP:0005257 Thoracic hypoplasia 
Show

 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
Show

 HP:0100259 Postaxial polydactyly "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson]
Show

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr