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UniProtKB - O15228 (GNPAT_HUMAN)

Entry version 191 (02 Jun 2021)
Sequence version 1 (01 Jan 1998)
Previous versions | rss
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Protein

Dihydroxyacetone phosphate acyltransferase

Gene

GNPAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Dihydroxyacetonephosphate acyltransferase involved in plasmalogen biosynthesis.

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Transferase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS04068-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.1.42, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O15228

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1483166, Synthesis of PA
R-HSA-75896, Plasmalogen biosynthesis
R-HSA-9033241, Peroxisomal protein import

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00940

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000148

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNPATImported
Synonyms:DAPAT, DHAPAT1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4416, GNPAT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602744, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15228

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000116906.11

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Membrane, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 variant, Dwarfism, Rhizomelic chondrodysplasia punctata

Organism-specific databases

DisGeNET

More...DisGeNETi		8443

MalaCards human disease database

More...MalaCardsi		GNPAT
MIMi222765, phenotype

Open Targets

More...OpenTargetsi		ENSG00000116906

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		309796, Rhizomelic chondrodysplasia punctata type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28795

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O15228, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4494

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GNPAT

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001952461 – 680Dihydroxyacetone phosphate acyltransferaseAdd BLAST680

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei12PhosphoserineBy similarity1
Modified residuei17PhosphoserineBy similarity1
Modified residuei643N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O15228

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O15228

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O15228

MaxQB - The MaxQuant DataBase

More...MaxQBi		O15228

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O15228

PeptideAtlas

More...PeptideAtlasi		O15228

PRoteomics IDEntifications database

More...PRIDEi		O15228

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4711
48518 [O15228-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O15228

MetOSite database of methionine sulfoxide sites

More...MetOSitei		O15228

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O15228

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O15228

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116906, Expressed in vastus lateralis and 244 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O15228, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O15228, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000116906, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114021, 53 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O15228

Protein interaction database and analysis system

More...IntActi		O15228, 34 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000355607

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O15228

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O15228, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi162 – 167HXXXXD motif6
Motifi678 – 680Microbody targeting signalSequence analysis3

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GPAT/DAPAT family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3730, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00520000055570

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15228

Identification of Orthologs from Complete Genome Data

More...OMAi		MLKNGFA

Database of Orthologous Groups

More...OrthoDBi		198209at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15228

TreeFam database of animal gene trees

More...TreeFami		TF313360

Family and domain databases

Conserved Domains Database

More...CDDi		cd07993, LPLAT_DHAPAT-like, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR028353, DHAPAT
IPR022284, GPAT/DHAPAT
IPR041728, GPAT/DHAPAT_LPLAT
IPR002123, Plipid/glycerol_acylTrfase

The PANTHER Classification System

More...PANTHERi		PTHR12563, PTHR12563, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01553, Acyltransferase, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF500063, DHAPAT, 1 hit
PIRSF000437, GPAT_DHAPAT, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00563, PlsC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:619
Mass (Da):69,906
Checksum:i50737E7FF854E8FB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TBH8Q5TBH8_HUMAN
Dihydroxyacetone phosphate acyltran...
GNPAT
587Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5TBH6Q5TBH6_HUMAN
Dihydroxyacetone phosphate acyltran...
GNPAT
222Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YH69A0A2R8YH69_HUMAN
Dihydroxyacetone phosphate acyltran...
GNPAT
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05643527 – 87Missing in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AJ002190 mRNA Translation: CAA05242.1
AF043937 mRNA Translation: AAC24505.1
AF218233 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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1592.1 [O15228-1]

NCBI Reference Sequences

More...RefSeqi		NP_001303279.1, NM_001316350.1 [O15228-2]
NP_055051.1, NM_014236.3 [O15228-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000366647; ENSP00000355607; ENSG00000116906 [O15228-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8443

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8443

UCSC genome browser

More...UCSCi		uc001hup.5, human [O15228-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ002190 mRNA Translation: CAA05242.1
AF043937 mRNA Translation: AAC24505.1
AF218233 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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi114021, 53 interactors
CORUMiO15228
IntActiO15228, 34 interactors
STRINGi9606.ENSP00000355607

Chemistry databases

BindingDBiO15228
ChEMBLiCHEMBL4494
SwissLipidsiSLP:000000148

PTM databases

iPTMnetiO15228
MetOSiteiO15228
PhosphoSitePlusiO15228
SwissPalmiO15228

Genetic variation databases

BioMutaiGNPAT

Proteomic databases

EPDiO15228
jPOSTiO15228
MassIVEiO15228
MaxQBiO15228
PaxDbiO15228
PeptideAtlasiO15228
PRIDEiO15228
ProteomicsDBi4711
48518 [O15228-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34685, 267 antibodies

The DNASU plasmid repository

More...DNASUi		8443

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8443
DisGeNETi8443

GeneCards: human genes, protein and diseases

More...GeneCardsi		GNPAT
HGNCiHGNC:4416, GNPAT
HPAiENSG00000116906, Low tissue specificity
MalaCardsiGNPAT
MIMi222765, phenotype
602744, gene
neXtProtiNX_O15228
OpenTargetsiENSG00000116906
Orphaneti309796, Rhizomelic chondrodysplasia punctata type 2
PharmGKBiPA28795
VEuPathDBiHostDB:ENSG00000116906.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3730, Eukaryota
GeneTreeiENSGT00520000055570
InParanoidiO15228
OMAiMLKNGFA
OrthoDBi198209at2759
PhylomeDBiO15228
TreeFamiTF313360

Enzyme and pathway databases

UniPathwayiUPA00940
BioCyciMetaCyc:HS04068-MONOMER
BRENDAi2.3.1.42, 2681
PathwayCommonsiO15228
ReactomeiR-HSA-1483166, Synthesis of PA
R-HSA-75896, Plasmalogen biosynthesis
R-HSA-9033241, Peroxisomal protein import

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8443, 18 hits in 993 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GNPAT, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		8443
PharosiO15228, Tchem

Protein Ontology

More...PROi		PR:O15228
RNActiO15228, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116906, Expressed in vastus lateralis and 244 other tissues
ExpressionAtlasiO15228, baseline and differential
GenevisibleiO15228, HS

Family and domain databases

CDDicd07993, LPLAT_DHAPAT-like, 1 hit
InterProiView protein in InterPro
IPR028353, DHAPAT
IPR022284, GPAT/DHAPAT
IPR041728, GPAT/DHAPAT_LPLAT
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGNPAT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15228
Secondary accession number(s): B4DNM9, Q5TBH7, Q9BWC2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: June 2, 2021
This is version 191 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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 genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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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