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Aliases for AGPS Gene

Aliases for AGPS Gene

  • Alkylglycerone Phosphate Synthase 2 3 5
  • Aging-Associated Gene 5 Protein 3 4
  • Alkyl-DHAP Synthase 3 4
  • EC 2.5.1.26 4 61
  • Alkyldihydroxyacetonephosphate Synthase, Peroxisomal 3
  • Alkylglycerone-Phosphate Synthase 4
  • 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F177350 1 Ensembl ENCODE 17.9 -41.2 -41243 4.4 HDGF TFAP4 SAP130 ARID4B YBX1 CDC5L RARA ZNF316 ZFHX2 GATA2 LOC100130691 AGPS NFE2L2 GC02P177352 ENSG00000238295
GH02F177337 1.1 Ensembl ENCODE 11.8 -54.2 -54212 1.4 HDAC1 ATF1 DDX20 JUN ZNF175 ZNF26 PRDM10 NR2F6 TRIM24 FOS LOC100130691 AGPS NFE2L2 ENSG00000222043 LOC105373757 GC02P177337 ENSG00000237178
GH02F177391 1.5 FANTOM5 ENCODE 6.8 +2.8 2773 7.2 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 LOC100130691 ENSG00000238295 ENSG00000237178 DNAJC19P5 AGPS NFE2L2 GC02P177449
GH02F177349 0.7 ENCODE 12.9 -43.5 -43547 0.2 HDGF GATAD2A SOX5 TFAP4 SAP130 ARID4B HMG20A MNT FOXA1 RARA AGPS NFE2L2 LOC100130691 ENSG00000238295 GC02P177352
GH02F177403 1.3 Ensembl ENCODE 6.8 +12.1 12126 1.9 PKNOX1 ARNT ARID4B YY1 GATA2 NCOA1 MIER2 REST PPARG KAT8 ENSG00000238295 ENSG00000237178 AGPS NFE2L2 GC02P177449
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000603082 656 3001 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207

Genomic Location for AGPS Gene

Chromosome:
2
Start:
177,392,644 bp from pter
End:
177,559,299 bp from pter
Size:
166,656 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

Selected DME Specific Peptides for AGPS Gene

O00116:
  • GGSLSHHHGVG
  • TRASGMKKN
  • CRVTQTYDAGACIYFYF
  • ELTGKRYPLSG
  • IIPIGGGTSV
  • YGNIEDLVV
  • AFPNFEQGV

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

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:0008609 alkylglycerone-phosphate synthase activity IEA,IDA 9553082
GO:0016491 oxidoreductase activity IEA --
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors IEA --
GO:0016740 transferase activity IEA --
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

Inhibitory RNA Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGPS gene
Compartment Confidence
mitochondrion 5
peroxisome 5
nucleus 5
plasma membrane 2
extracellular 2
cytosol 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AGPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA 20833797
GO:0005777 peroxisome IEA,IDA 9553082
GO:0005778 peroxisomal membrane IEA,IDA 21525035
GO:0005782 peroxisomal matrix TAS --
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

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:0006629 lipid metabolic process IEA --
GO:0008610 lipid biosynthetic process IEA,IDA 9553082
GO:0008611 ether lipid biosynthetic process ISS,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

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

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

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

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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AGPS Gene



Protein tissue co-expression partners for AGPS Gene

NURSA nuclear receptor signaling pathways regulating expression of AGPS Gene:

AGPS

SOURCE GeneReport for Unigene cluster for AGPS Gene:

Hs.516543
genes like me logo Genes that share expression patterns with AGPS: view

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
chimpanzee
(Pan troglodytes)
Mammalia AGPS 34 35
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia AGPS 34 35
  • 94.99 (n)
oppossum
(Monodelphis domestica)
Mammalia AGPS 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGPS 34 35
  • 93.53 (n)
rat
(Rattus norvegicus)
Mammalia Agps 34
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Agps 34 16 35
  • 90.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AGPS 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGPS 34 35
  • 80.5 (n)
lizard
(Anolis carolinensis)
Reptilia AGPS 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agps 34
  • 76.6 (n)
zebrafish
(Danio rerio)
Actinopterygii agps 34 35
  • 70.04 (n)
wufd16e06 34
fruit fly
(Drosophila melanogaster)
Insecta CG10253 36 34 35
  • 55.89 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004358 34
  • 53.73 (n)
worm
(Caenorhabditis elegans)
Secernentea ads-1 36 34 35
  • 57.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DLD1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13977 34
Species where no ortholog for AGPS was found in the sources mined by GeneCards:
  • 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
rs121434411 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121], Pathogenic 177,493,170(+) TATTC(A/G)CCTCA nc-transcript-variant, reference, missense
rs121434412 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121], Pathogenic 177,461,948(+) CAGTA(C/T)TGTAG nc-transcript-variant, reference, missense
rs121434413 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121], Pathogenic 177,499,661(+) ATTAC(C/T)GTTTG nc-transcript-variant, reference, missense
rs387907214 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121], Pathogenic 177,521,274(+) GGTGA(C/T)GCAGA nc-transcript-variant, reference, missense
VAR_066929 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]

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

Variant ID Type Subtype PubMed ID
nsv961533 CNV duplication 23825009
nsv954702 CNV deletion 24416366
nsv953527 CNV duplication 24416366
nsv507053 OTHER sequence alteration 20534489
nsv1129401 OTHER inversion 24896259
nsv1070340 CNV deletion 25765185
esv8338 CNV loss 19470904
esv3593464 CNV loss 21293372
esv3593461 CNV loss 21293372
esv3560597 CNV deletion 23714750
esv2840680 CNV deletion 24192839
esv2721181 CNV deletion 23290073
esv2665427 CNV deletion 23128226
esv2660495 CNV deletion 23128226
esv2433824 CNV deletion 19546169
esv2084314 CNV deletion 18987734
esv1690590 CNV insertion 17803354
esv1528872 CNV insertion 17803354
dgv2099n106 CNV deletion 24896259

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGPS

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

Disorders for AGPS Gene

MalaCards: The human disease database

(7) 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
  • chondrodysplasia punctata, rhizomelic
photoallergic dermatitis
  • photoallergic contact dermatitis
pneumonic tularemia
  • bronchopneumonic tularemia
fungal meningitis
  • meningitis, fungal
- 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 64
  2. 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 4 64
  3. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (PMID: 21990100) Itzkovitz B. … Braverman N. (Hum. Mutat. 2012) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for AGPS Gene

Sources for AGPS Gene

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