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Aliases for AGPS Gene

Aliases for AGPS Gene

  • Alkylglycerone Phosphate Synthase 2 3 5
  • Alkylglycerone-Phosphate Synthase 3 4
  • Aging-Associated Gene 5 Protein 3 4
  • Alkyl-DHAP Synthase 3 4
  • EC 2.5.1.26 4 63
  • Aging-Associated Protein 5 3
  • ALDHPSY 3
  • ADAP-S 3
  • ADHAPS 3
  • RCDP3 3
  • ADAS 3
  • ADPS 3

External Ids for AGPS Gene

Previous GeneCards Identifiers for AGPS Gene

  • GC02P176320
  • GC02P176928
  • GC02P178221
  • GC02P178460
  • GC02P178083
  • GC02P177965
  • GC02P170128

Summaries for AGPS Gene

Entrez Gene Summary for AGPS 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 a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for AGPS Gene

AGPS (Alkylglycerone Phosphate Synthase) is a Protein Coding gene. Diseases associated with AGPS include Chondrodysplasia Punctata, Rhizomelic, Type 3 and Rhizomelic Chondrodysplasia Punctata. Among its related pathways are Metabolism and Peroxisome. GO annotations related to this gene include oxidoreductase activity and FAD binding. An important paralog of this gene is LDHD.

UniProtKB/Swiss-Prot for AGPS Gene

  • Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGPS Gene

Genomics for AGPS Gene

Regulatory Elements for AGPS Gene

Enhancers for AGPS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AGPS on UCSC Golden Path with GeneCards custom track

Promoters for AGPS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AGPS on UCSC Golden Path with GeneCards custom track

Genomic Location for AGPS Gene

Chromosome:
2
Start:
177,392,644 bp from pter
End:
177,543,836 bp from pter
Size:
151,193 bases
Orientation:
Plus strand

Genomic View for AGPS Gene

Genes around AGPS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGPS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGPS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGPS Gene

Proteins for AGPS Gene

  • Protein details for AGPS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00116-ADAS_HUMAN
    Recommended name:
    Alkyldihydroxyacetonephosphate synthase, peroxisomal
    Protein Accession:
    O00116
    Secondary Accessions:
    • A5D8U9
    • Q2TU35

    Protein attributes for AGPS Gene

    Size:
    658 amino acids
    Molecular mass:
    72912 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer.

neXtProt entry for AGPS Gene

Proteomics data for AGPS Gene at MOPED

Selected DME Specific Peptides for AGPS Gene

Post-translational modifications for AGPS Gene

  • Ubiquitination at Lys 92, Lys 108, Lys 456, and Lys 490
  • Modification sites at PhosphoSitePlus

Other Protein References for AGPS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AGPS Gene

Suggested Antigen Peptide Sequences for AGPS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00116

UniProtKB/Swiss-Prot:

ADAS_HUMAN :
  • Contains 1 FAD-binding PCMH-type domain.
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
Domain:
  • Contains 1 FAD-binding PCMH-type domain.
Family:
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
genes like me logo Genes that share domains with AGPS: view

No data available for Gene Families for AGPS Gene

Function for AGPS Gene

Molecular function for AGPS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-acyl-glycerone 3-phosphate + a long-chain alcohol = an alkyl-glycerone 3-phosphate + a long-chain acid anion.
UniProtKB/Swiss-Prot Function:
Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids.

Enzyme Numbers (IUBMB) for AGPS Gene

Gene Ontology (GO) - Molecular Function for AGPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0050660 flavin adenine dinucleotide binding IEA --
GO:0071949 FAD binding ISS --
genes like me logo Genes that share ontologies with AGPS: view
genes like me logo Genes that share phenotypes with AGPS: view

Human Phenotype Ontology for AGPS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AGPS Gene

Localization for AGPS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGPS Gene

Peroxisome membrane. Note=Localized to the inner aspect of the peroxisomal membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGPS Gene COMPARTMENTS Subcellular localization image for AGPS gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 5
cytosol 2
plasma membrane 2
extracellular 1
golgi apparatus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AGPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with AGPS: view

Pathways & Interactions for AGPS Gene

genes like me logo Genes that share pathways with AGPS: view

Pathways by source for AGPS Gene

UniProtKB/Swiss-Prot O00116-ADAS_HUMAN

  • Pathway: Glycerolipid metabolism; ether lipid biosynthesis.

Gene Ontology (GO) - Biological Process for AGPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044255 cellular lipid metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with AGPS: view

No data available for SIGNOR curated interactions for AGPS Gene

Drugs & Compounds for AGPS Gene

(6) Drugs for AGPS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Dodecanol Experimental Pharma 0

(13) Additional Compounds for AGPS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexadecanol
  • 1-Cetanol
  • 1-Hexadecanol
  • 1-Hexadecyl alc
  • 1-Hexadecyl alcohol
  • 1-Hexanedecanol
36653-82-4
1-Undecanol
  • 1-Hendecanol
  • 1-Undecanol
  • 1-Undecyl alcohol
  • Alcohol c-11
  • Alcohol C11
112-42-5
Arachidyl alcohol
  • 1-Eicosanol
  • 1-Icosanol
  • 1-Icosanol (ACD/Name 4.0)
  • 1-Prydroxyeicosane
  • Arachic alcohol
629-96-9
Decyl alcohol
  • 1-Decanol
  • 1-Decanol (ACD/Name 4.0)
  • Agent 504
  • Alcohol C-10
  • Alcohol C10
112-30-1
DHAP(18:0)
  • 1-Octadecanoyl DHAP
  • 1-Octadecanoyl Dihydroxyacetone phosphate
  • 1-Octadecanoyl-glycerone-3-phosphate
  • 1-Stearoylglycerone 3-phosphate
genes like me logo Genes that share compounds with AGPS: view

Transcripts for AGPS Gene

Unigene Clusters for AGPS Gene

Alkylglycerone phosphate synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGPS Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b
SP1: -
SP2: - - - - - - - - - - - - - - - - -
SP3:

Relevant External Links for AGPS Gene

GeneLoc Exon Structure for
AGPS
ECgene alternative splicing isoforms for
AGPS

Expression for AGPS Gene

mRNA expression in normal human tissues for AGPS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AGPS Gene

This gene is overexpressed in Bone (23.0), Peripheral blood mononuclear cells (8.2), and Breast (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AGPS Gene



SOURCE GeneReport for Unigene cluster for AGPS Gene Hs.516543

genes like me logo Genes that share expression patterns with AGPS: view

Protein tissue co-expression partners for AGPS Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AGPS Gene

Orthologs for AGPS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGPS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AGPS 35
  • 94.99 (n)
  • 97.28 (a)
AGPS 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGPS 35
  • 93.53 (n)
  • 94.01 (a)
AGPS 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Agps 35
  • 90.96 (n)
  • 93.1 (a)
Agps 16
Agps 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AGPS 35
  • 99.65 (n)
  • 99.85 (a)
AGPS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agps 35
  • 91.49 (n)
  • 92.3 (a)
oppossum
(Monodelphis domestica)
Mammalia AGPS 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGPS 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGPS 35
  • 80.5 (n)
  • 82.52 (a)
AGPS 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGPS 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agps 35
  • 76.6 (n)
  • 81.18 (a)
zebrafish
(Danio rerio)
Actinopterygii agps 35
  • 70.04 (n)
  • 75.65 (a)
wufd16e06 35
agps 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10253 37
  • 52 (a)
CG10253 35
  • 55.89 (n)
  • 55.24 (a)
CG10253 36
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004358 35
  • 53.73 (n)
  • 53.5 (a)
worm
(Caenorhabditis elegans)
Secernentea ads-1 37
  • 53 (a)
ads-1 35
  • 57.13 (n)
  • 54.21 (a)
ads-1 36
  • 51 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DLD1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13977 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToOne
Species with no ortholog for AGPS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGPS Gene

ENSEMBL:
Gene Tree for AGPS (if available)
TreeFam:
Gene Tree for AGPS (if available)

Paralogs for AGPS Gene

Paralogs for AGPS Gene

genes like me logo Genes that share paralogs with AGPS: view

Variants for AGPS Gene

Sequence variations from dbSNP and Humsavar for AGPS Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_005002 Rhizomelic chondrodysplasia punctata 3 (RCDP3)
VAR_025895 Rhizomelic chondrodysplasia punctata 3 (RCDP3)
VAR_025896 Rhizomelic chondrodysplasia punctata 3 (RCDP3)
VAR_066929 Rhizomelic chondrodysplasia punctata 3 (RCDP3)
VAR_066930 Rhizomelic chondrodysplasia punctata 3 (RCDP3)

Structural Variations from Database of Genomic Variants (DGV) for AGPS Gene

Variant ID Type Subtype PubMed ID
esv2433824 CNV Deletion 19546169
esv2084314 CNV Deletion 18987734
esv2721181 CNV Deletion 23290073
esv8338 CNV Loss 19470904
esv2665427 CNV Deletion 23128226
esv1528872 CNV Insertion 17803354
nsv507053 CNV Insertion 20534489
esv267553 CNV Insertion 20981092
esv272459 CNV Insertion 20981092
esv1690590 CNV Insertion 17803354
esv2660495 CNV Deletion 23128226

Variation tolerance for AGPS Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGPS Gene

Human Gene Mutation Database (HGMD)
AGPS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGPS Gene

Disorders for AGPS Gene

MalaCards: The human disease database

(8) MalaCards diseases for AGPS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia punctata, rhizomelic, type 3
  • rhizomelic chondrodysplasia punctata, type 3
rhizomelic chondrodysplasia punctata
  • rcdp
chondrodysplasia punctata
  • chondrodysplasia calcificans congenita
photoallergic dermatitis
  • photoallergic contact dermatitis
pneumonic tularemia
  • bronchopneumonic tularemia
- elite association - COSMIC cancer census association via MalaCards
Search AGPS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADAS_HUMAN
  • Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]: A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity. {ECO:0000269 PubMed:11152660, ECO:0000269 PubMed:21990100, ECO:0000269 PubMed:9553082}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGPS

Genetic Association Database (GAD)
AGPS
Human Genome Epidemiology (HuGE) Navigator
AGPS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGPS
genes like me logo Genes that share disorders with AGPS: view

No data available for Genatlas for AGPS Gene

Publications for AGPS Gene

  1. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. (PMID: 9553082) de Vet E.C.J.M. … van den Bosch H. (J. Biol. Chem. 1998) 2 3 4 67
  2. Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. (PMID: 10384985) Biermann J. … van den Bosch H. (Eur. J. Cell Biol. 1999) 3 23
  3. Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. (PMID: 10683770) Biermann J. … van den Bosch H. (IUBMB Life 1999) 3 23
  4. Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2. (PMID: 9187299) de Vet E.C.J.M. … van den Bosch H. (Biochim. Biophys. Acta 1997) 2 3
  5. Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. (PMID: 9266692) de Vet E.C. … van den Bosch H. (Eur. J. Biochem. 1997) 3 23

Products for AGPS Gene

Sources for AGPS Gene

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