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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
  • Alkyldihydroxyacetonephosphate Synthase, Peroxisomal 3
  • Alkylglycerone-Phosphate Synthase 4
  • Aging-Associated Protein 5 3
  • EC 2.5.1.26 4
  • 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 Rhizomelic Chondrodysplasia Punctata, Type 3 and Rhizomelic Chondrodysplasia Punctata. Among its related pathways are Metabolism and triacylglycerol biosynthesis. Gene Ontology (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.

Additional gene information for AGPS Gene

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

Genomics for AGPS Gene

GeneHancer (GH) Regulatory Elements for AGPS Gene

Promoters and enhancers for AGPS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J177391 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 656.8 +2.8 2772 7.2 MLX DMAP1 YY1 SLC30A9 ZNF143 NFYC MEF2D SSRP1 ZNF610 GLIS1 AGPS HNRNPA3 RBM45 LOC100130691 ENSG00000238295 ENSG00000237178 DNAJC19P5 NFE2L2 GC02P177449 GC02M177355
GH02J177349 Enhancer 0.8 Ensembl ENCODE 17.9 -40.9 -40943 3.8 SRF TFAP4 DACH1 TSC22D4 CBFA2T3 CDC5L FOXA1 ZFHX2 NONO EGR2 GC02P177352 LOC100130691 AGPS HNRNPA3 NFE2L2 DNAJC19P5 ENSG00000238295
GH02J177337 Enhancer 1 Ensembl ENCODE 11.8 -54.2 -54211 1.4 HDAC1 ATF1 FOXA2 ZNF766 FOS ATF7 CEBPB REST ZEB2 ZNF592 LOC100130691 AGPS NFE2L2 ENSG00000222043 LOC105373757 GC02P177337 ENSG00000237178
GH02J177350 Enhancer 0.7 ENCODE 12.9 -43.5 -43546 0.2 HDGF SOX5 GATAD2A TFAP4 SAP130 ARID4B HMG20A BATF RARA FOXA1 NFE2L2 AGPS LOC100130691 ENSG00000238295 GC02P177352
GH02J177551 Promoter/Enhancer 1.5 Ensembl ENCODE 5.7 +160.3 160343 2.2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 E2F8 ZNF207 PIR48086 TTC30B PIR37119 HNRNPA3 RBM45 DNAJC19P5 AGPS GC02M177472 GC02M177479 GC02M177488
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AGPS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGPS gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • GATA-2
  • LyF-1
  • Egr-2
  • MIF-1
  • C/EBPalpha
  • Evi-1
  • AREB6

Genomic Locations for AGPS Gene

Genomic Locations for AGPS Gene
chr2:177,392,644-177,559,299
(GRCh38/hg38)
Size:
166,656 bases
Orientation:
Plus strand
chr2:178,257,372-178,408,564
(GRCh37/hg19)
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

Post-translational modifications for AGPS Gene

  • Ubiquitination at posLast=490490, Lys456, Lys108, and Lys92
  • Modification sites at PhosphoSitePlus

Other Protein References for AGPS Gene

No data available for DME Specific Peptides for AGPS Gene

Domains & Families for AGPS Gene

Gene Families for AGPS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

Function for AGPS Gene

Molecular function for AGPS Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
1-acyl-glycerone 3-phosphate + a long-chain alcohol = an alkyl-glycerone 3-phosphate + a long-chain acid anion.

Enzyme Numbers (IUBMB) for AGPS Gene

Phenotypes From GWAS Catalog 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 IDA,IEA 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

Clone 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
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AGPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion HDA 20833797
GO:0005777 peroxisome IDA,IEA 9553082
GO:0005778 peroxisomal membrane HDA,IEA 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 TAS,IEA --
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
1-Hexadecanol Approved Pharma 0
FAD Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Undecanol
  • Undecan-1-ol
  • 1-Hendecanol
  • 1-Undecyl alcohol
  • Alcohol c-11
  • Alcohol C11
112-42-5
Arachidyl alcohol
  • 1-Eicosanol
  • Arachidic alcohol
  • Eicosan-1-ol
  • Eicosyl alcohol
  • 1-Icosanol
629-96-9
Decyl alcohol
  • 1-Decanol
  • Capric alcohol
  • Caprinic alcohol
  • Decyl alcohol
  • N-Decan-1-ol
112-30-1
DHAP(18:0)
  • 1-Octadecanoyl dhap
  • 1-Octadecanoyl dihydroxyacetone phosphate
  • 1-Octadecanoyl-glycerone-3-phosphate
  • 1-Stearoylglycerone 3-phosphate
DHAP(18:0e)
  • 1-Octadecyl dhap
  • 1-Octadecyl dihdroxyacetone phosphate
  • 1-Octadecyl-glycerone-3-phosphate
  • Octadecyldihydroxyacetone phosphate
genes like me logo Genes that share compounds with AGPS: view

Transcripts for AGPS Gene

mRNA/cDNA for AGPS Gene

Unigene Clusters for AGPS Gene

Alkylglycerone phosphate synthase:
Representative Sequences:

Clone 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 CGAP 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, 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

Evidence on tissue expression from TISSUES for AGPS Gene

  • Liver(4.4)
  • Nervous system(3.4)
  • Blood(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGPS Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Thorax:
  • clavicle
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
genes like me logo Genes that share expression patterns with AGPS: view

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 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AGPS 34 33
  • 94.99 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AGPS 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGPS 34 33
  • 93.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agps 33
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Agps 16 34 33
  • 90.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AGPS 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGPS 34 33
  • 80.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGPS 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agps 33
  • 76.6 (n)
zebrafish
(Danio rerio)
Actinopterygii agps 34 33
  • 70.04 (n)
OneToOne
wufd16e06 33
fruit fly
(Drosophila melanogaster)
Insecta CG10253 34 35 33
  • 55.89 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004358 33
  • 53.73 (n)
worm
(Caenorhabditis elegans)
Secernentea ads-1 34 35 33
  • 57.13 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DLD1 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToOne
Cin.13977 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13977 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for AGPS: view image

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 Variation AA Info Type
rs1007439470 uncertain-significance, Rhizomelic chondrodysplasia punctata 177,543,660(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1046980663 uncertain-significance, Rhizomelic chondrodysplasia punctata 177,538,573(+) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs10803912 benign, Rhizomelic chondrodysplasia punctata 177,542,448(+) C/A 3_prime_UTR_variant, non_coding_transcript_variant
rs10930795 benign, Rhizomelic chondrodysplasia punctata 177,540,061(+) A/G 3_prime_UTR_variant, non_coding_transcript_variant
rs112754713 likely-benign, Rhizomelic chondrodysplasia punctata 177,538,572(+) C/A/G/T 3_prime_UTR_variant, non_coding_transcript_variant

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)

Additional Variant Information for AGPS Gene

Human Gene Mutation Database (HGMD)
AGPS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGPS

SNP Genotyping and Copy Number Assay Products

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

Disorders for AGPS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
rhizomelic chondrodysplasia punctata, type 3
  • rcdp3
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic form
photoallergic dermatitis
  • photoallergic contact dermatitis
rhizomelic chondrodysplasia punctata, type 2
  • rcdp2
zellweger syndrome
  • zs
- 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.

Additional Disease Information for AGPS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EC … van den Bosch H (The Journal of biological chemistry 1998) 2 3 4 58
  2. Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2. (PMID: 9187299) de Vet EC … van den Bosch H (Biochimica et biophysica acta 1997) 2 3 4 58
  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 (Human mutation 2012) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for AGPS Gene

Sources for AGPS Gene

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