ENSG00000172361


Homo sapiens

Features
Gene ID: ENSG00000172361
  
Biological name :CFAP53
  
Synonyms : CFAP53 / cilia and flagella associated protein 53 / Q96M91
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.1
Gene start: 50227193
Gene end: 50266522
  
Corresponding Affymetrix probe sets: 1552325_at (Human Genome U133 Plus 2.0 Array)   1552326_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000381553
NCBI entrez gene - 220136     See in Manteia.
OMIM - 614759
RefSeq - NM_145020
RefSeq Peptide - NP_659457
swissprot - Q96M91
Ensembl - ENSG00000172361
  
Related genetic diseases (OMIM): 614779 - Heterotaxy, visceral, 6, autosomal recessive, 614779
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
 cfap53ENSDARG00000100892Danio rerio
 Cfap53ENSMUSG00000035394Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR033365  Cilia- and flagella-associated protein 53


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0060287 epithelial cilium movement involved in determination of left/right asymmetry ISS
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0001651 Dextrocardia "A left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side in stead of the left." [HPO:sdoelken]
Show

 HP:0001669 Transposition of the great vessels 
Show

 HP:0003363 Abdominal situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the abdominal organs." [HPO:curators]
Show

 HP:0003828 Variable expressivity 
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