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UniProtKB - O15228 (GNPAT_HUMAN)

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Protein

Dihydroxyacetone phosphate acyltransferase

Gene

GNPAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

Acyl-CoA + glycerone phosphate = CoA + acylglycerone phosphate.

Pathwayi: glycerophospholipid metabolism

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
  • palmitoyl-CoA hydrolase activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionAcyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS04068-MONOMER
BRENDAi2.3.1.42 2681
ReactomeiR-HSA-1483166 Synthesis of PA
R-HSA-75896 Plasmalogen biosynthesis
R-HSA-9033241 Peroxisomal protein import
UniPathwayiUPA00940

Chemistry databases

SwissLipidsiSLP:000000148

Names & Taxonomyi

Protein namesi
Recommended name:
Dihydroxyacetone phosphate acyltransferase (EC:2.3.1.42)
Short name:
DAP-AT
Short name:
DHAP-AT
Alternative name(s):
Acyl-CoA:dihydroxyacetonephosphateacyltransferase
Glycerone-phosphate O-acyltransferase
Gene namesi
Name:GNPAT
Synonyms:DAPAT, DHAPAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116906.11
HGNCiHGNC:4416 GNPAT
MIMi602744 gene
neXtProtiNX_O15228

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Rhizomelic chondrodysplasia punctata 2 (RCDP2)3 Publications
The disease is caused by mutations 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.
See also OMIM:222765
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_006357211R → C in RCDP2. 1 PublicationCorresponds to variant dbSNP:rs121434440EnsemblClinVar.1
Natural variantiVAR_006358211R → H in RCDP2; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121434439EnsemblClinVar.1
Natural variantiVAR_025897519D → G in RCDP2; 70% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs11558492EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation, Dwarfism, Rhizomelic chondrodysplasia punctata

Organism-specific databases

DisGeNETi8443
MalaCardsiGNPAT
MIMi222765 phenotype
OpenTargetsiENSG00000116906
Orphaneti309796 Rhizomelic chondrodysplasia punctata type 2
PharmGKBiPA28795

Chemistry databases

ChEMBLiCHEMBL4494

Polymorphism and mutation databases

BioMutaiGNPAT

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001952461 – 680Dihydroxyacetone phosphate acyltransferaseAdd BLAST680

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineBy similarity1
Modified residuei17PhosphoserineBy similarity1
Modified residuei643N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO15228
MaxQBiO15228
PaxDbiO15228
PeptideAtlasiO15228
PRIDEiO15228
ProteomicsDBi48518

PTM databases

iPTMnetiO15228
PhosphoSitePlusiO15228
SwissPalmiO15228

Expressioni

Gene expression databases

BgeeiENSG00000116906
CleanExiHS_GNPAT
ExpressionAtlasiO15228 baseline and differential
GenevisibleiO15228 HS

Interactioni

Subunit structurei

May be part of a heterotrimeric complex composed of DAP-AT, ADAP-S and a modified form of DAP-AT.

GO - Molecular functioni

  • signaling receptor binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi114021, 43 interactors
CORUMiO15228
IntActiO15228, 11 interactors
STRINGi9606.ENSP00000355607

Chemistry databases

BindingDBiO15228

Structurei

3D structure databases

ProteinModelPortaliO15228
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi162 – 167HXXXXD motif6
Motifi678 – 680Microbody targeting signalSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 9Poly-Ser7

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

eggNOGiKOG3730 Eukaryota
COG2937 LUCA
GeneTreeiENSGT00520000055570
HOVERGENiHBG051749
InParanoidiO15228
KOiK00649
OMAiPRYIPQK
OrthoDBiEOG091G0378
PhylomeDBiO15228
TreeFamiTF313360

Family and domain databases

InterProiView protein in InterPro
IPR028353 DHAPAT
IPR022284 GPAT/DHAPAT
IPR002123 Plipid/glycerol_acylTrfase
PANTHERiPTHR12563 PTHR12563, 1 hit
PfamiView protein in Pfam
PF01553 Acyltransferase, 1 hit
PIRSFiPIRSF500063 DHAPAT, 1 hit
PIRSF000437 GPAT_DHAPAT, 1 hit
SMARTiView protein in SMART
SM00563 PlsC, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O15228-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:680
Mass (Da):77,188
Last modified:January 1, 1998 - v1
Checksum:iBDF624CCD4D92477
GO
Isoform 2 (identifier: O15228-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-87: Missing.

Note: No experimental confirmation available.
Show »
Length:619
Mass (Da):69,906
Checksum:i50737E7FF854E8FB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti26S → K AA sequence (PubMed:9536089).Curated1
Sequence conflicti31K → N AA sequence (PubMed:9536089).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_006357211R → C in RCDP2. 1 PublicationCorresponds to variant dbSNP:rs121434440EnsemblClinVar.1
Natural variantiVAR_006358211R → H in RCDP2; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121434439EnsemblClinVar.1
Natural variantiVAR_030696495V → I. Corresponds to variant dbSNP:rs11122266EnsemblClinVar.1
Natural variantiVAR_025897519D → G in RCDP2; 70% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs11558492EnsemblClinVar.1
Natural variantiVAR_030697586Y → H1 PublicationCorresponds to variant dbSNP:rs17849315Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05643527 – 87Missing in isoform 2. 1 PublicationAdd BLAST61

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
CCDSiCCDS1592.1 [O15228-1]
RefSeqiNP_001303279.1, NM_001316350.1 [O15228-2]
NP_055051.1, NM_014236.3 [O15228-1]
UniGeneiHs.498028

Genome annotation databases

EnsembliENST00000366647; ENSP00000355607; ENSG00000116906 [O15228-1]
GeneIDi8443
KEGGihsa:8443
UCSCiuc001hup.5 human [O15228-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiGNPAT_HUMAN
AccessioniPrimary (citable) accession number: O15228
Secondary accession number(s): B4DNM9, Q5TBH7, Q9BWC2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: July 18, 2018
This is version 172 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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