Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8540
Gene name Gene Name - the full gene name approved by the HGNC.
Alkylglycerone phosphate synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGPS
Synonyms (NCBI Gene) Gene synonyms aliases
ADAP-S, ADAS, ADHAPS, ADPS, ALDHPSY, RCDP3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RCDP3
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs59535792 ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, 3 prime UTR variant
rs121434411 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121434412 C>A,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121434413 T>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs200039061 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027666 hsa-miR-98-5p Microarray 19088304
MIRT509995 hsa-miR-8485 HITS-CLIP 21572407
MIRT509996 hsa-miR-4643 HITS-CLIP 21572407
MIRT509992 hsa-miR-5689 HITS-CLIP 21572407
MIRT509994 hsa-miR-5580-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005730 Component Nucleolus IDA
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005777 Component Peroxisome IDA 9553082, 10415121
GO:0005778 Component Peroxisomal membrane HDA 21525035
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603051 327 ENSG00000018510
Protein
UniProt ID O00116
Protein name Alkyldihydroxyacetonephosphate synthase, peroxisomal (Alkyl-DHAP synthase) (EC 2.5.1.26) (Aging-associated gene 5 protein) (Alkylglycerone-phosphate synthase)
Protein function Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01565 FAD_binding_4 206 348 FAD binding domain Domain
PF02913 FAD-oxidase_C 384 657 FAD linked oxidases, C-terminal domain Domain
Sequence
Sequence length 658
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ether lipid metabolism
Metabolic pathways
Peroxisome
  Plasmalogen biosynthesis
Peroxisomal protein import
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Chondrodysplasia punctata Chondrodysplasia Punctata, Rhizomelic rs80338714, rs398122843, rs121434599, rs121434604, rs2107055197, rs2089231699 21990100, 8685243, 9090381, 7096336, 10215861, 24849933, 25197626, 11152660, 9553082, 21353609, 9114014
Congenital lipodystrophy Congenital Generalized Lipodystrophy Type 1 rs786205069, rs587777608, rs786205071, rs137852970, rs137852971, rs758843908, rs137852973, rs137852974, rs137852975, rs1427062799, rs1567776490, rs1567782465, rs1489315815, rs104894093, rs116807569
View all (34 more)
Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata, type 3, Rhizomelic chondrodysplasia punctata type 3 rs121434411, rs121434412, rs121434413, rs121434439, rs121434440, rs1558334625, rs1571950208, rs1571957148, rs1805137, rs121909151, rs121909152, rs121909153, rs63535662, rs148591292, rs121909154
View all (41 more)
24849933, 11152660, 27604308, 21990100, 9553082
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 24815474, 25755779, 37652516
Chondrodysplasia Punctata Rhizomelic Associate 25439727, 34110102
Cognitive Dysfunction Associate 30149449
Glioma Associate 24815474, 25755779
Mohr Tranebjaerg syndrome Associate 24815474
Neoplasms Associate 24815474, 25755779
Prostatic Neoplasms Inhibit 38200609
Rhizomelic chondrodysplasia punctata type 2 Associate 10972423