UniProtKB - O15228 (GNPAT_HUMAN)
Protein
Dihydroxyacetone phosphate acyltransferase
Gene
GNPAT
Organism
Homo sapiens (Human)
Status
Functioni
Dihydroxyacetonephosphate acyltransferase involved in plasmalogen biosynthesis.1 Publication
Catalytic activityi
- EC:2.3.1.42
- dihydroxyacetone phosphate + hexadecanoyl-CoA = 1-hexadecanoylglycerone 3-phosphate + CoA1 PublicationThis reaction proceeds in the forward1 Publication direction.
: glycerophospholipid metabolism Pathwayi
This protein is involved in the pathway glycerophospholipid metabolism, which is part of Membrane lipid metabolism.View all proteins of this organism that are known to be involved in the pathway glycerophospholipid metabolism and in Membrane lipid metabolism.
GO - Molecular functioni
- glycerone-phosphate O-acyltransferase activity Source: UniProtKB
GO - Biological processi
- cerebellum morphogenesis Source: Ensembl
- ether lipid biosynthetic process Source: UniProtKB
- fatty acid metabolic process Source: GO_Central
- membrane organization Source: Ensembl
- paranodal junction assembly Source: Ensembl
- phosphatidic acid biosynthetic process Source: Reactome
- phospholipid biosynthetic process Source: GO_Central
- protein targeting to peroxisome Source: Reactome
- response to drug Source: Ensembl
- response to fatty acid Source: Ensembl
- response to nutrient Source: Ensembl
- response to starvation Source: Ensembl
- synapse assembly Source: Ensembl
Keywordsi
Molecular function | Acyltransferase, Transferase |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04068-MONOMER |
BRENDAi | 2.3.1.42, 2681 |
PathwayCommonsi | O15228 |
Reactomei | R-HSA-1483166, Synthesis of PA R-HSA-75896, Plasmalogen biosynthesis R-HSA-9033241, Peroxisomal protein import |
UniPathwayi | UPA00940 |
Chemistry databases
SwissLipidsi | SLP:000000148 |
Names & Taxonomyi
Protein namesi | Recommended name: Dihydroxyacetone phosphate acyltransferaseCurated (EC:2.3.1.42)Short name: DAP-AT Short name: DHAP-AT1 Publication Alternative name(s): Acyl-CoA:dihydroxyacetonephosphateacyltransferase Glycerone-phosphate O-acyltransferase |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4416, GNPAT |
MIMi | 602744, gene |
neXtProti | NX_O15228 |
VEuPathDBi | HostDB:ENSG00000116906.11 |
Subcellular locationi
Peroxisome
- Peroxisome membrane By similarity; Peripheral membrane protein By similarity; Matrix side By similarity
Note: Exclusively localized to the lumenal side of the peroxisomal membrane.By similarity
Cytosol
- cytosol Source: Reactome
Mitochondrion
- mitochondrial membrane Source: GO_Central
Peroxisome
- peroxisomal matrix Source: Reactome
- peroxisomal membrane Source: UniProtKB
- peroxisome Source: UniProtKB
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
Membrane, PeroxisomePathology & Biotechi
Involvement in diseasei
Rhizomelic chondrodysplasia punctata 2 (RCDP2)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006357 | 211 | R → C in RCDP2. 1 PublicationCorresponds to variant dbSNP:rs121434440EnsemblClinVar. | 1 | |
Natural variantiVAR_006358 | 211 | R → H in RCDP2; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121434439EnsemblClinVar. | 1 | |
Natural variantiVAR_025897 | 519 | D → G in RCDP2; 70% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs11558492EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Disease variant, Dwarfism, Rhizomelic chondrodysplasia punctataOrganism-specific databases
DisGeNETi | 8443 |
MalaCardsi | GNPAT |
MIMi | 222765, phenotype |
OpenTargetsi | ENSG00000116906 |
Orphaneti | 309796, Rhizomelic chondrodysplasia punctata type 2 |
PharmGKBi | PA28795 |
Miscellaneous databases
Pharosi | O15228, Tchem |
Chemistry databases
ChEMBLi | CHEMBL4494 |
Genetic variation databases
BioMutai | GNPAT |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000195246 | 1 – 680 | Dihydroxyacetone phosphate acyltransferaseAdd BLAST | 680 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 12 | PhosphoserineBy similarity | 1 | |
Modified residuei | 17 | PhosphoserineBy similarity | 1 | |
Modified residuei | 643 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | O15228 |
jPOSTi | O15228 |
MassIVEi | O15228 |
MaxQBi | O15228 |
PaxDbi | O15228 |
PeptideAtlasi | O15228 |
PRIDEi | O15228 |
ProteomicsDBi | 4711 48518 [O15228-1] |
PTM databases
iPTMneti | O15228 |
MetOSitei | O15228 |
PhosphoSitePlusi | O15228 |
SwissPalmi | O15228 |
Expressioni
Gene expression databases
Bgeei | ENSG00000116906, Expressed in vastus lateralis and 243 other tissues |
ExpressionAtlasi | O15228, baseline and differential |
Genevisiblei | O15228, HS |
Organism-specific databases
HPAi | ENSG00000116906, Low tissue specificity |
Interactioni
Subunit structurei
May be part of a heterotrimeric complex composed of DAP-AT, ADAP-S and a modified form of DAP-AT.
Protein-protein interaction databases
BioGRIDi | 114021, 51 interactors |
CORUMi | O15228 |
IntActi | O15228, 34 interactors |
STRINGi | 9606.ENSP00000355607 |
Chemistry databases
BindingDBi | O15228 |
Miscellaneous databases
RNActi | O15228, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 162 – 167 | HXXXXD motif | 6 | |
Motifi | 678 – 680 | Microbody targeting signalSequence analysis | 3 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 3 – 9 | Poly-Ser | 7 |
Domaini
The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.By similarity
Sequence similaritiesi
Belongs to the GPAT/DAPAT family.Curated
Phylogenomic databases
eggNOGi | KOG3730, Eukaryota |
GeneTreei | ENSGT00520000055570 |
InParanoidi | O15228 |
OMAi | MLKNGFA |
OrthoDBi | 198209at2759 |
PhylomeDBi | O15228 |
TreeFami | TF313360 |
Family and domain databases
CDDi | cd07993, LPLAT_DHAPAT-like, 1 hit |
InterProi | View protein in InterPro IPR028353, DHAPAT IPR022284, GPAT/DHAPAT IPR041728, GPAT/DHAPAT_LPLAT IPR002123, Plipid/glycerol_acylTrfase |
PANTHERi | PTHR12563, PTHR12563, 1 hit |
Pfami | View protein in Pfam PF01553, Acyltransferase, 1 hit |
PIRSFi | PIRSF500063, DHAPAT, 1 hit PIRSF000437, GPAT_DHAPAT, 1 hit |
SMARTi | View protein in SMART SM00563, PlsC, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O15228-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MESSSSSNSY FSVGPTSPSA VVLLYSKELK KWDEFEDILE ERRHVSDLKF
60 70 80 90 100
AMKCYTPLVY KGITPCKPID IKCSVLNSEE IHYVIKQLSK ESLQSVDVLR
110 120 130 140 150
EEVSEILDEM SHKLRLGAIR FCAFTLSKVF KQIFSKVCVN EEGIQKLQRA
160 170 180 190 200
IQEHPVVLLP SHRSYIDFLM LSFLLYNYDL PVPVIAAGMD FLGMKMVGEL
210 220 230 240 250
LRMSGAFFMR RTFGGNKLYW AVFSEYVKTM LRNGYAPVEF FLEGTRSRSA
260 270 280 290 300
KTLTPKFGLL NIVMEPFFKR EVFDTYLVPI SISYDKILEE TLYVYELLGV
310 320 330 340 350
PKPKESTTGL LKARKILSEN FGSIHVYFGD PVSLRSLAAG RMSRSSYNLV
360 370 380 390 400
PRYIPQKQSE DMHAFVTEVA YKMELLQIEN MVLSPWTLIV AVLLQNRPSM
410 420 430 440 450
DFDALVEKTL WLKGLTQAFG GFLIWPDNKP AEEVVPASIL LHSNIASLVK
460 470 480 490 500
DQVILKVDSG DSEVVDGLML QHITLLMCSA YRNQLLNIFV RPSLVAVALQ
510 520 530 540 550
MTPGFRKEDV YSCFRFLRDV FADEFIFLPG NTLKDFEEGC YLLCKSEAIQ
560 570 580 590 600
VTTKDILVTE KGNTVLEFLV GLFKPFVESY QIICKYLLSE EEDHFSEEQY
610 620 630 640 650
LAAVRKFTSQ LLDQGTSQCY DVLSSDVQKN ALAACVRLGV VEKKKINNNC
660 670 680
IFNVNEPATT KLEEMLGCKT PIGKPATAKL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5TBH8 | Q5TBH8_HUMAN | Dihydroxyacetone phosphate acyltran... | GNPAT | 587 | Annotation score: | ||
Q5TBH6 | Q5TBH6_HUMAN | Dihydroxyacetone phosphate acyltran... | GNPAT | 222 | Annotation score: | ||
A0A2R8YH69 | A0A2R8YH69_HUMAN | Dihydroxyacetone phosphate acyltran... | GNPAT | 133 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 26 | S → K AA sequence (PubMed:9536089).Curated | 1 | |
Sequence conflicti | 31 | K → N AA sequence (PubMed:9536089).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006357 | 211 | R → C in RCDP2. 1 PublicationCorresponds to variant dbSNP:rs121434440EnsemblClinVar. | 1 | |
Natural variantiVAR_006358 | 211 | R → H in RCDP2; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121434439EnsemblClinVar. | 1 | |
Natural variantiVAR_030696 | 495 | V → I. Corresponds to variant dbSNP:rs11122266EnsemblClinVar. | 1 | |
Natural variantiVAR_025897 | 519 | D → G in RCDP2; 70% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs11558492EnsemblClinVar. | 1 | |
Natural variantiVAR_030697 | 586 | Y → H1 PublicationCorresponds to variant dbSNP:rs17849315Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056435 | 27 – 87 | Missing in isoform 2. 1 PublicationAdd BLAST | 61 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ002190 mRNA Translation: CAA05242.1 AF043937 mRNA Translation: AAC24505.1 AF218233 , AF218223, AF218224, AF218225, AF218226, AF218227, AF218228, AF218229, AF218230, AF218231, AF218232 Genomic DNA Translation: AAG17547.1 AK297982 mRNA Translation: BAG60291.1 AL117352 Genomic DNA No translation available. AL137801 Genomic DNA No translation available. BC000450 mRNA Translation: AAH00450.1 |
CCDSi | CCDS1592.1 [O15228-1] |
RefSeqi | NP_001303279.1, NM_001316350.1 [O15228-2] NP_055051.1, NM_014236.3 [O15228-1] |
Genome annotation databases
Ensembli | ENST00000366647; ENSP00000355607; ENSG00000116906 [O15228-1] |
GeneIDi | 8443 |
KEGGi | hsa:8443 |
UCSCi | uc001hup.5, human [O15228-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ002190 mRNA Translation: CAA05242.1 AF043937 mRNA Translation: AAC24505.1 AF218233 , AF218223, AF218224, AF218225, AF218226, AF218227, AF218228, AF218229, AF218230, AF218231, AF218232 Genomic DNA Translation: AAG17547.1 AK297982 mRNA Translation: BAG60291.1 AL117352 Genomic DNA No translation available. AL137801 Genomic DNA No translation available. BC000450 mRNA Translation: AAH00450.1 |
CCDSi | CCDS1592.1 [O15228-1] |
RefSeqi | NP_001303279.1, NM_001316350.1 [O15228-2] NP_055051.1, NM_014236.3 [O15228-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114021, 51 interactors |
CORUMi | O15228 |
IntActi | O15228, 34 interactors |
STRINGi | 9606.ENSP00000355607 |
Chemistry databases
BindingDBi | O15228 |
ChEMBLi | CHEMBL4494 |
SwissLipidsi | SLP:000000148 |
PTM databases
iPTMneti | O15228 |
MetOSitei | O15228 |
PhosphoSitePlusi | O15228 |
SwissPalmi | O15228 |
Genetic variation databases
BioMutai | GNPAT |
Proteomic databases
EPDi | O15228 |
jPOSTi | O15228 |
MassIVEi | O15228 |
MaxQBi | O15228 |
PaxDbi | O15228 |
PeptideAtlasi | O15228 |
PRIDEi | O15228 |
ProteomicsDBi | 4711 48518 [O15228-1] |
Protocols and materials databases
Antibodypediai | 34685, 253 antibodies |
Genome annotation databases
Ensembli | ENST00000366647; ENSP00000355607; ENSG00000116906 [O15228-1] |
GeneIDi | 8443 |
KEGGi | hsa:8443 |
UCSCi | uc001hup.5, human [O15228-1] |
Organism-specific databases
CTDi | 8443 |
DisGeNETi | 8443 |
GeneCardsi | GNPAT |
HGNCi | HGNC:4416, GNPAT |
HPAi | ENSG00000116906, Low tissue specificity |
MalaCardsi | GNPAT |
MIMi | 222765, phenotype 602744, gene |
neXtProti | NX_O15228 |
OpenTargetsi | ENSG00000116906 |
Orphaneti | 309796, Rhizomelic chondrodysplasia punctata type 2 |
PharmGKBi | PA28795 |
VEuPathDBi | HostDB:ENSG00000116906.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3730, Eukaryota |
GeneTreei | ENSGT00520000055570 |
InParanoidi | O15228 |
OMAi | MLKNGFA |
OrthoDBi | 198209at2759 |
PhylomeDBi | O15228 |
TreeFami | TF313360 |
Enzyme and pathway databases
UniPathwayi | UPA00940 |
BioCyci | MetaCyc:HS04068-MONOMER |
BRENDAi | 2.3.1.42, 2681 |
PathwayCommonsi | O15228 |
Reactomei | R-HSA-1483166, Synthesis of PA R-HSA-75896, Plasmalogen biosynthesis R-HSA-9033241, Peroxisomal protein import |
Miscellaneous databases
BioGRID-ORCSi | 8443, 13 hits in 873 CRISPR screens |
ChiTaRSi | GNPAT, human |
GenomeRNAii | 8443 |
Pharosi | O15228, Tchem |
PROi | PR:O15228 |
RNActi | O15228, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116906, Expressed in vastus lateralis and 243 other tissues |
ExpressionAtlasi | O15228, baseline and differential |
Genevisiblei | O15228, HS |
Family and domain databases
CDDi | cd07993, LPLAT_DHAPAT-like, 1 hit |
InterProi | View protein in InterPro IPR028353, DHAPAT IPR022284, GPAT/DHAPAT IPR041728, GPAT/DHAPAT_LPLAT IPR002123, Plipid/glycerol_acylTrfase |
PANTHERi | PTHR12563, PTHR12563, 1 hit |
Pfami | View protein in Pfam PF01553, Acyltransferase, 1 hit |
PIRSFi | PIRSF500063, DHAPAT, 1 hit PIRSF000437, GPAT_DHAPAT, 1 hit |
SMARTi | View protein in SMART SM00563, PlsC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GNPAT_HUMAN | |
Accessioni | O15228Primary (citable) accession number: O15228 Secondary accession number(s): B4DNM9, Q5TBH7, Q9BWC2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | January 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 189 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families