ENSG00000018510


Homo sapiens

Features
Gene ID: ENSG00000018510
  
Biological name :AGPS
  
Synonyms : AGPS / alkylglycerone phosphate synthase / O00116
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q31.2
Gene start: 177392644
Gene end: 177559299
  
Corresponding Affymetrix probe sets: 205401_at (Human Genome U133 Plus 2.0 Array)   225108_at (Human Genome U133 Plus 2.0 Array)   225113_at (Human Genome U133 Plus 2.0 Array)   225114_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000386688
Ensembl peptide - ENSP00000494433
Ensembl peptide - ENSP00000490844
Ensembl peptide - ENSP00000264167
NCBI entrez gene - 8540     See in Manteia.
OMIM - 603051
RefSeq - XM_011512041
RefSeq - XM_011512042
RefSeq - XM_011512043
RefSeq - NM_003659
RefSeq Peptide - NP_003650
swissprot - O00116
swissprot - A0A1B0GWA2
swissprot - B8ZZ81
Ensembl - ENSG00000018510
  
Related genetic diseases (OMIM): 600121 - Rhizomelic chondrodysplasia punctata, type 3, 600121
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
 agpsENSDARG00000042821Danio rerio
 AGPSENSGALG00000009236Gallus gallus
 AgpsENSMUSG00000042410Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LDHD / Q86WU2 / lactate dehydrogenase DENSG0000016681617


Protein motifs (from Interpro)
Interpro ID Name
 IPR004113  FAD-linked oxidase, C-terminal
 IPR006094  FAD linked oxidase, N-terminal
 IPR016164  FAD-linked oxidase-like, C-terminal
 IPR016166  FAD-binding, type 2
 IPR016167  FAD-binding, type 2, subdomain 1
 IPR016171  Vanillyl-alcohol oxidase, C-terminal subdomain 2
 IPR025650  Alkyldihydroxyacetonephosphate synthase
 IPR036318  FAD-binding, type 2-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008610 lipid biosynthetic process IEA
 biological_processGO:0008611 ether lipid biosynthetic process IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005739 mitochondrion HDA
 cellular_componentGO:0005777 peroxisome IEA
 cellular_componentGO:0005778 peroxisomal membrane IEA
 cellular_componentGO:0005782 peroxisomal matrix TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008609 alkylglycerone-phosphate synthase activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016614 oxidoreductase activity, acting on CH-OH group of donors IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IEA
 molecular_functionGO:0071949 FAD binding ISS


Pathways (from Reactome)
Pathway description
Plasmalogen biosynthesis
Peroxisomal protein import
TYSND1 cleaves peroxisomal proteins


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]
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 HP:0001508 Failure to thrive 
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 HP:0003097 Short femur "An abnormal shortening of the thigh bones." [HPO:curators]
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 HP:0005792 Humeral hypoplasia 
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 HP:0008905 Rhizomelic short stature 
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 HP:0010655 Stippling of the epiphyses "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108733 PEX12 / O00623 / peroxisomal biogenesis factor 12  / complex / reaction
 ENSG00000139197 PEX5 / P50542 / peroxisomal biogenesis factor 5  / reaction / complex
 ENSG00000142655 PEX14 / O75381 / peroxisomal biogenesis factor 14  / complex / reaction
 ENSG00000162928 PEX13 / Q92968 / peroxisomal biogenesis factor 13  / complex / reaction
 ENSG00000157911 PEX10 / O60683 / peroxisomal biogenesis factor 10  / reaction / complex
 ENSG00000164751 PEX2 / P28328 / peroxisomal biogenesis factor 2  / reaction / complex
 ENSG00000116906 GNPAT / O15228 / glyceronephosphate O-acyltransferase  / complex
 ENSG00000156521 Q2T9J0 / TYSND1 / trypsin domain containing 1  / reaction
 ENSG00000112357 PEX7 / O00628 / peroxisomal biogenesis factor 7  / reaction / complex






 

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