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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
  • Dihydroxyacetone Phosphate Acyltransferase 2 3
  • EC 2.3.1.42 4 61
  • DHAP-AT 3 4
  • DAP-AT 3 4
  • DHAPAT 3 4
  • DAPAT 3 4
  • EC 2.3.1 61
  • 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 Peroxisome and triacylglycerol biosynthesis. GO annotations related to this gene include receptor binding and palmitoyl-CoA hydrolase activity. An important paralog of this gene is GPAM.

No data available for CIViC summary , 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

Enhancers for GNPAT 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
GH01G231240 1.1 ENCODE 24.9 +0.4 360 2.9 PKNOX1 FOXA2 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GNPAT C1orf131 GC01P231282
GH01G231210 1.6 FANTOM5 Ensembl ENCODE 16.8 -29.2 -29237 2.0 ARID4B SIN3A ZNF2 ZNF48 GLIS2 ELK1 ZNF143 ZNF263 SP3 REST GNPAT C1orf131 FAM89A MIR1182 LOC644006 LOC101927604 C1orf198 COG2 SPRTN LOC149373
GH01G230641 1.1 ENCODE 10.8 -597.7 -597738 3.2 HDGF CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF766 GNPAT C1orf198 LOC101927604 AGT GC01P230645 COG2
GH01G230842 1.1 dbSUPER 10.8 -396.8 -396800 3.9 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 FEZF1 YY1 SLC30A9 ZNF766 LOC101927604 C1orf198 GNPAT ENSG00000244137 ENSG00000225656
GH01G231603 1.2 Ensembl ENCODE 9.8 +363.0 362985 1.2 HDAC1 PKNOX1 RB1 ZSCAN4 ARID4B KLF17 SIN3A ZNF2 ZBTB40 RAD21 DISC1 EGLN1 GNPAT C1orf131 SPRTN LINC00582 GC01P231590 GC01P231591
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNPAT on UCSC Golden Path with GeneCards custom track

Promoters for GNPAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000021699 227 2401 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

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

Selected DME Specific Peptides for GNPAT Gene

O15228:
  • LLPSHRSYIDFLMLSF
  • LFKPFVESYQ
  • FLEGTRSR

Post-translational modifications for GNPAT Gene

  • Ubiquitination at posLast=113113
  • Modification sites at PhosphoSitePlus

Other Protein References for GNPAT Gene

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:0005102 receptor binding IPI 20178365
GO:0008374 O-acyltransferase activity IEA --
GO:0016287 glycerone-phosphate O-acyltransferase activity IEA,TAS --
GO:0016290 palmitoyl-CoA hydrolase activity IDA 8186247
GO:0016740 transferase 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

CRISPR Products

miRNA for GNPAT Gene

miRTarBase miRNAs that target GNPAT

Inhibitory RNA Products

Clone Products

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
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 GNPAT gene
Compartment Confidence
peroxisome 5
mitochondrion 3
cytoskeleton 2
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GNPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IEA,NAS 9459311
GO:0005778 peroxisomal membrane TAS --
GO:0005782 peroxisomal matrix TAS --
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with GNPAT: view

Pathways & Interactions for GNPAT Gene

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

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:0006650 glycerophospholipid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0007416 synapse assembly IEA --
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process 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

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

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

(40) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GNPAT Gene



Protein tissue co-expression partners for GNPAT Gene

NURSA nuclear receptor signaling pathways regulating expression of GNPAT Gene:

GNPAT

SOURCE GeneReport for Unigene cluster for GNPAT Gene:

Hs.498028

Evidence on tissue expression from TISSUES for GNPAT Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Liver(2.2)
  • Kidney(2.1)
  • Skin(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GNPAT: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia GNPAT 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia GNPAT 34 35
  • 89.92 (n)
cow
(Bos Taurus)
Mammalia GNPAT 34 35
  • 88.77 (n)
mouse
(Mus musculus)
Mammalia Gnpat 34 16 35
  • 81.48 (n)
rat
(Rattus norvegicus)
Mammalia Gnpat 34
  • 81.43 (n)
oppossum
(Monodelphis domestica)
Mammalia GNPAT 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPAT 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNPAT 34 35
  • 69.96 (n)
lizard
(Anolis carolinensis)
Reptilia GNPAT 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnpat 34
  • 63.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4034 34
zebrafish
(Danio rerio)
Actinopterygii gnpat 34 35
  • 60.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dhap-at 35 34
  • 42.95 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001908 34
  • 42.74 (n)
worm
(Caenorhabditis elegans)
Secernentea acl-7 35 34
  • 46.36 (n)
OneToOne
Y46G5A.21 36
  • 45 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11282 34
  • 43.13 (n)
Species where no ortholog for GNPAT was found in the sources mined by GeneCards:
  • 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
rs11558492 Pathogenic, Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765] 231,272,345(-) AAACA(A/C/T)CACGT reference, missense
rs28939696 Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]
rs28939697 Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]
rs121434439 Pathogenic 231,265,356(+) GCGGC(A/G)TACCT reference, missense
rs121434440 Pathogenic 231,265,355(+) TGCGG(C/T)GTACC reference, missense

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

Variant ID Type Subtype PubMed ID
esv3589093 CNV gain 21293372
esv3589106 CNV gain 21293372
nsv1000488 CNV gain 25217958
nsv1011066 CNV gain 25217958

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

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

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

Disorders for GNPAT Gene

MalaCards: The human disease database

(13) 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
  • chondrodysplasia punctata, rhizomelic form
peroxisomal disease
  • peroxisomal disorder
peroxisome disorders
  • peroxisomal disease
chondrodysplasia punctata syndrome
  • chondrodysplasia punctata
- 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 22 64
  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 22 46 64
  3. 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 4 22 64
  4. Ether lipid biosynthesis: isolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase. (PMID: 9459311) Thai T.-P. … Just W.W. (FEBS Lett. 1997) 2 3 4 64
  5. 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

Products for GNPAT Gene

Sources for GNPAT Gene

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