ENSG00000091622


Homo sapiens

Features
Gene ID: ENSG00000091622
  
Biological name :PITPNM3
  
Synonyms : PITPNM3 / PITPNM family member 3 / Q9BZ71
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: p13.1
Gene start: 6451264
Gene end: 6556494
  
Corresponding Affymetrix probe sets: 221254_s_at (Human Genome U133 Plus 2.0 Array)   230076_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262483
Ensembl peptide - ENSP00000407882
Ensembl peptide - ENSP00000458901
NCBI entrez gene - 83394     See in Manteia.
OMIM - 608921
RefSeq - XM_011524017
RefSeq - NM_001165966
RefSeq - NM_031220
RefSeq - XM_011524015
RefSeq - XM_011524016
RefSeq Peptide - NP_001159438
RefSeq Peptide - NP_112497
swissprot - Q9BZ71
swissprot - I3L1K1
Ensembl - ENSG00000091622
  
Related genetic diseases (OMIM): 600977 - Cone-rod dystrophy 5, 600977
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
 PITPNM3ENSGALG00000006034Gallus gallus
 Q3UHE1ENSMUSG00000040543Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9BZ72 / PITPNM2 / phosphatidylinositol transfer protein membrane associated 2ENSG0000009097557
O00562 / PITPNM1 / phosphatidylinositol transfer protein membrane associated 1ENSG0000011069749
Q9UKF7 / PITPNC1 / phosphatidylinositol transfer protein, cytoplasmic 1ENSG000001542172
P48739 / PITPNB / phosphatidylinositol transfer protein betaENSG000001809571
PITPNA / Q00169 / phosphatidylinositol transfer protein alphaENSG000001742381


Protein motifs (from Interpro)
Interpro ID Name
 IPR004177  DDHD domain
 IPR023214  HAD superfamily
 IPR031315  LNS2/PITP
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006661 phosphatidylinositol biosynthetic process TAS
 biological_processGO:0015914 phospholipid transport IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0044297 cell body IEA
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0008526 phosphatidylinositol transporter activity TAS
 molecular_functionGO:0030971 receptor tyrosine kinase binding IMP
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Synthesis of PI


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000608 Macular degeneration 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007703 Abnormal retinal pigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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