ENSG00000080572


Homo sapiens

Features
Gene ID: ENSG00000080572
  
Biological name :PIH1D3
  
Synonyms : PIH1D3 / PIH1 domain containing 3 / Q9NQM4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q22.3
Gene start: 107206632
Gene end: 107244243
  
Corresponding Affymetrix probe sets: 231389_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000337757
Ensembl peptide - ENSP00000361531
Ensembl peptide - ENSP00000441930
NCBI entrez gene - 139212     See in Manteia.
OMIM - 300933
RefSeq - XM_011530855
RefSeq - NM_001169154
RefSeq - NM_173494
RefSeq Peptide - NP_775765
RefSeq Peptide - NP_001162625
swissprot - Q9NQM4
Ensembl - ENSG00000080572
  
Related genetic diseases (OMIM): 300991 - Ciliary dyskinesia, primary, 36, X-linked, 300991
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
 pih1d3ENSDARG00000038612Danio rerio
 PIH1D3ENSGALG00000004870Gallus gallus
 Pih1d3ENSMUSG00000026063Mus musculus
 Pih1h3bENSMUSG00000042433Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR008978  HSP20-like chaperone
 IPR026697  PIH1 domain-containing protein 3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0030317 flagellated sperm motility ISS
 biological_processGO:0070286 axonemal dynein complex assembly ISS
 cellular_componentGO:0005737 cytoplasm ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0051087 chaperone binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000789 Infertility 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002643 Neonatal respiratory distress 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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