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]
Show

 HP:0001508 Failure to thrive 
Show

 HP:0003097 Short femur "An abnormal shortening of the thigh bones." [HPO:curators]
Show

 HP:0005792 Humeral hypoplasia 
Show

 HP:0008905 Rhizomelic short stature 
Show

 HP:0010655 Stippling of the epiphyses "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [HPO:curators]
Show

  


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  / complex / reaction
 ENSG00000157911 PEX10 / O60683 / peroxisomal biogenesis factor 10  / complex / reaction
 ENSG00000162928 PEX13 / Q92968 / peroxisomal biogenesis factor 13  / complex / reaction
 ENSG00000142655 PEX14 / O75381 / peroxisomal biogenesis factor 14  / complex / reaction
 ENSG00000164751 PEX2 / P28328 / peroxisomal biogenesis factor 2  / complex / reaction
 ENSG00000116906 GNPAT / O15228 / glyceronephosphate O-acyltransferase  / complex
 ENSG00000156521 Q2T9J0 / TYSND1 / trypsin domain containing 1  / reaction
 ENSG00000112357 PEX7 / O00628 / peroxisomal biogenesis factor 7  / complex / reaction






 

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 2007-2025
contact: otassy@igbmc.fr