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Aliases for GNPAT Gene

Aliases for GNPAT Gene

  • Glyceronephosphate O-Acyltransferase 2 3 5
  • Glycerone-Phosphate O-Acyltransferase 2 3 4
  • Acyl-CoA:Dihydroxyacetonephosphateacyltransferase 3 4
  • EC 2.3.1.42 4 63
  • DHAP-AT 3 4
  • DAP-AT 3 4
  • DHAPAT 3 4
  • DAPAT 3 4
  • Dihydroxyacetone Phosphate Acyltransferase 2
  • EC 2.3.1 63
  • RCDP2 3

External Ids for GNPAT Gene

Previous GeneCards Identifiers for GNPAT Gene

  • GC01P229823
  • GC01P227116
  • GC01P227850
  • GC01P228411
  • GC01P227683
  • GC01P229443
  • GC01P231376
  • GC01P201860

Summaries for GNPAT Gene

Entrez Gene Summary for GNPAT Gene

  • This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for GNPAT Gene

GNPAT (Glyceronephosphate O-Acyltransferase) is a Protein Coding gene. Diseases associated with GNPAT include chondrodysplasia punctata, rhizomelic, type 2 and rhizomelic chondrodysplasia punctata. Among its related pathways are Metabolism and Peroxisomal lipid metabolism. GO annotations related to this gene include receptor binding and palmitoyl-CoA hydrolase activity. An important paralog of this gene is GPAT2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNPAT Gene

Genomics for GNPAT Gene

Regulatory Elements for GNPAT Gene

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

ENSRs around GNPAT on UCSC Golden Path with GeneCards custom track

Genomic Location for GNPAT Gene

Chromosome:
1
Start:
231,241,173 bp from pter
End:
231,277,973 bp from pter
Size:
36,801 bases
Orientation:
Plus strand

Genomic View for GNPAT Gene

Genes around GNPAT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GNPAT Gene

Proteins for GNPAT Gene

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

    Protein Symbol:
    O15228-GNPAT_HUMAN
    Recommended name:
    Dihydroxyacetone phosphate acyltransferase
    Protein Accession:
    O15228
    Secondary Accessions:
    • B4DNM9
    • Q5TBH7
    • Q9BWC2

    Protein attributes for GNPAT Gene

    Size:
    680 amino acids
    Molecular mass:
    77188 Da
    Quaternary structure:
    • May be part of a heterotrimeric complex composed of DAP-AT, ADAP-S and a modified form of DAP-AT.

    Alternative splice isoforms for GNPAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNPAT Gene

Proteomics data for GNPAT Gene at MOPED

Selected DME Specific Peptides for GNPAT Gene

Post-translational modifications for GNPAT Gene

  • Ubiquitination at Lys 113
  • Modification sites at PhosphoSitePlus

Other Protein References for GNPAT Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GNPAT

Domains & Families for GNPAT Gene

Protein Domains for GNPAT Gene

Graphical View of Domain Structure for InterPro Entry

O15228

UniProtKB/Swiss-Prot:

GNPAT_HUMAN :
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
  • Belongs to the GPAT/DAPAT family.
Domain:
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
Family:
  • Belongs to the GPAT/DAPAT family.
genes like me logo Genes that share domains with GNPAT: view

No data available for Gene Families for GNPAT Gene

Function for GNPAT Gene

Molecular function for GNPAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + glycerone phosphate = CoA + acylglycerone phosphate.

Enzyme Numbers (IUBMB) for GNPAT Gene

Gene Ontology (GO) - Molecular Function for GNPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008374 O-acyltransferase activity IEA --
genes like me logo Genes that share ontologies with GNPAT: view
genes like me logo Genes that share phenotypes with GNPAT: view

Human Phenotype Ontology for GNPAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNPAT Gene

MGI Knock Outs for GNPAT:

Animal Model Products

miRNA for GNPAT Gene

miRTarBase miRNAs that target GNPAT

No data available for Transcription Factor Targets and HOMER Transcription for GNPAT Gene

Localization for GNPAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNPAT Gene

Peroxisome membrane; Peripheral membrane protein; Matrix side. Note=Exclusively localized to the lumenal side of the peroxisomal membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNPAT Gene COMPARTMENTS Subcellular localization image for GNPAT gene
Compartment Confidence
peroxisome 5
mitochondrion 3
cytoskeleton 2
cytosol 2
nucleus 2
extracellular 1
golgi apparatus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for GNPAT Gene

Pathways & Interactions for GNPAT Gene

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

Pathways by source for GNPAT Gene

UniProtKB/Swiss-Prot O15228-GNPAT_HUMAN

  • Pathway: Membrane lipid metabolism; glycerophospholipid metabolism.

Gene Ontology (GO) - Biological Process for GNPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007416 synapse assembly IEA --
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process IEA --
GO:0021587 cerebellum morphogenesis IEA --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with GNPAT: view

No data available for SIGNOR curated interactions for GNPAT Gene

Drugs & Compounds for GNPAT Gene

(3) Drugs for GNPAT Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Propionyl-CoA Experimental Pharma 0
Coenzyme A Nutra 0

(41) Additional Compounds for GNPAT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with GNPAT: view

Transcripts for GNPAT Gene

Unigene Clusters for GNPAT Gene

Glyceronephosphate O-acyltransferase:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6:
SP7: -
SP8:
SP9:
SP10: - - - -
SP11:
SP12:

ExUns: 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for GNPAT Gene

GeneLoc Exon Structure for
GNPAT
ECgene alternative splicing isoforms for
GNPAT

Expression for GNPAT Gene

mRNA expression in normal human tissues for GNPAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNPAT Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for GNPAT Gene

This gene is overexpressed in Breast (43.4) and Peripheral blood mononuclear cells (9.8).

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



SOURCE GeneReport for Unigene cluster for GNPAT Gene Hs.498028

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

Protein tissue co-expression partners for GNPAT Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GNPAT Gene

Orthologs for GNPAT Gene

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

Orthologs for GNPAT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GNPAT 35
  • 88.77 (n)
  • 90.27 (a)
GNPAT 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNPAT 35
  • 89.92 (n)
  • 90.57 (a)
GNPAT 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnpat 35
  • 81.48 (n)
  • 81.68 (a)
Gnpat 16
Gnpat 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNPAT 35
  • 99.36 (n)
  • 99.26 (a)
GNPAT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnpat 35
  • 81.43 (n)
  • 82.13 (a)
oppossum
(Monodelphis domestica)
Mammalia GNPAT 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPAT 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNPAT 35
  • 69.96 (n)
  • 67.12 (a)
GNPAT 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNPAT 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnpat 35
  • 63.29 (n)
  • 58.83 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4034 35
zebrafish
(Danio rerio)
Actinopterygii gnpat 35
  • 60.21 (n)
  • 56.92 (a)
gnpat 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001908 35
  • 42.74 (n)
  • 33.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dhap-at 35
  • 42.95 (n)
  • 32.69 (a)
Dhap-at 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y46G5A.21 37
  • 45 (a)
acl-7 35
  • 46.36 (n)
  • 33.04 (a)
acl-7 36
  • 29 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU11282 35
  • 43.13 (n)
  • 31.22 (a)
Species with no ortholog for GNPAT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 GNPAT Gene

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

Paralogs for GNPAT Gene

Paralogs for GNPAT Gene

(1) SIMAP similar genes for GNPAT Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for GNPAT Gene

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

Variants for GNPAT Gene

Sequence variations from dbSNP and Humsavar for GNPAT Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_006357 Rhizomelic chondrodysplasia punctata 2 (RCDP2)
VAR_006358 Rhizomelic chondrodysplasia punctata 2 (RCDP2)
rs11558492 Rhizomelic chondrodysplasia punctata 2 (RCDP2) 231,272,345(-) AAACA(A/C/T)CACGT reference, missense
VAR_030696 -
rs17849315 - 231,275,233(+) GCAAG(C/T)ACCTT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv873292 CNV Gain 21882294

Variation tolerance for GNPAT Gene

Residual Variation Intolerance Score: 25.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNPAT Gene

HapMap Linkage Disequilibrium report
GNPAT
Human Gene Mutation Database (HGMD)
GNPAT

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

Disorders for GNPAT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chondrodysplasia punctata, rhizomelic, type 2
  • rhizomelic chondrodysplasia punctata type 2
rhizomelic chondrodysplasia punctata
  • rcdp
chondrodysplasia punctata
  • chondrodysplasia calcificans congenita
peroxisomal disease
  • peroxisomal disorder
peroxisome disorders
  • peroxisomal disease
- elite association - COSMIC cancer census association via MalaCards
Search GNPAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNPAT_HUMAN
  • Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]: 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:9536089}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNPAT

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

No data available for Genatlas for GNPAT Gene

Publications for GNPAT Gene

  1. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (PMID: 9536089) Ofman R. … Wanders R.J.A. (Hum. Mol. Genet. 1998) 2 3 4 23 67
  2. A single nucleotide polymorphism fine mapping study of chromosome 1q42.1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention. (PMID: 16997000) Liu Y.L. … Hwu H.G. (Biol. Psychiatry 2006) 3 23
  3. Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids. (PMID: 15687349) Liu D. … Zoeller R.A. (J. Lipid Res. 2005) 3 23
  4. Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human GNPAT gene and its use in the identification of novel mutations. (PMID: 11237722) Ofman R. … Wanders R.J.A. (Biochem. Biophys. Res. Commun. 2001) 3 23
  5. Synthesis of plasmalogens in eye lens epithelial cells. (PMID: 10456321) Thai T.P. … Just W.W. (FEBS Lett. 1999) 3 23

Products for GNPAT Gene

Sources for GNPAT Gene

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