Gene Gene information from NCBI Gene database.
Entrez ID 8540
Gene name Alkylglycerone phosphate synthase
Gene symbol AGPS
Synonyms (NCBI Gene)
ADAP-SADASADHAPSADPSALDHPSYRCDP3
Chromosome 2
Chromosome location 2q31.2
Summary 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.
7
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.
449
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005777 Component Peroxisome IBA
GO:0005777 Component Peroxisome IDA 9553082, 10415121
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603051 327 ENSG00000018510
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
257
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Rhizomelic chondrodysplasia punctata Likely pathogenic rs121434412, rs2468138958 RCV006263620
RCV003230992
Rhizomelic chondrodysplasia punctata type 3 Likely pathogenic; Pathogenic rs2105675391, rs121434411, rs121434412, rs121434413, rs1685908703, rs2468138852, rs2468129774, rs2468548073, rs2468129580, rs2468548491, rs2468548402, rs2468525239, rs1686427549, rs1345538545, rs2468125860
View all (6 more)
RCV001449736
RCV000007024
RCV000007025
RCV000007026
RCV003459981
RCV003459985
RCV003459986
RCV003459987
RCV003475589
RCV003466240
RCV003467841
RCV003459994
RCV003459996
RCV003467859
RCV003467863
RCV003460002
RCV003467868
RCV004575687
RCV004575691
RCV000029144
RCV003469364
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Uncertain significance rs148111927, rs746449593 RCV005917829
RCV005922646
AGPS-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs1218586614, rs755836525, rs560217758, rs138280491, rs1201994217, rs368667324, rs753932510 RCV003930955
RCV003913636
RCV004757976
RCV003905945
RCV003920821
RCV003978007
RCV003938596
Cervical cancer Likely benign rs780000133 RCV005934850
Colon adenocarcinoma Benign rs115580413 RCV005886985
Associations from Text MiningDisease associations identified through Pubtator
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