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UniProtKB - Q8N335 (GPD1L_HUMAN)

Entry version 159 (07 Apr 2021)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
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Protein

Glycerol-3-phosphate dehydrogenase 1-like protein

Gene

GPD1L

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

Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L.2 Publications

<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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei122SubstrateBy similarity1
Binding sitei155NAD; via amide nitrogen1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei206Proton acceptor1
Binding sitei271NADBy similarity1
Binding sitei298NAD; via amide nitrogen1 Publication1
Binding sitei300NADBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi12 – 17NAD1 Publication6

<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 functionOxidoreductase
LigandNAD

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8N335

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1483166, Synthesis of PA

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000146

<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:
Glycerol-3-phosphate dehydrogenase 1-like protein (EC:1.1.1.81 Publication)
Short name:
GPD1-L
<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:GPD1LImported
Synonyms:KIAA0089
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28956, GPD1L

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611778, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N335

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000152642.10

<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

Cytoplasm

<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

Brugada syndrome 2 (BRGDA2)4 Publications
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
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_04404483E → K in BRGDA2; unknown pathological significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 2 PublicationsCorresponds to variant dbSNP:rs72552292EnsemblClinVar.1
Natural variantiVAR_044045124I → V in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552293EnsemblClinVar.1
Natural variantiVAR_044046273R → C in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552294EnsemblClinVar.1
Natural variantiVAR_044047280A → V in BRGDA2; unknown pathological significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells. 3 PublicationsCorresponds to variant dbSNP:rs72552291EnsemblClinVar.1

Keywords - Diseasei

Brugada syndrome, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		23171

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		GPD1L

MalaCards human disease database

More...MalaCardsi		GPD1L
MIMi611777, phenotype

Open Targets

More...OpenTargetsi		ENSG00000152642

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

More...Orphaneti		130, Brugada syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134986345

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8N335, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GPD1L

Domain mapping of disease mutations (DMDM)

More...DMDMi		74750945

<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_00002865111 – 351Glycerol-3-phosphate dehydrogenase 1-like proteinAdd BLAST351

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8N335

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8N335

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8N335

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8N335

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

More...PaxDbi		Q8N335

PeptideAtlas

More...PeptideAtlasi		Q8N335

PRoteomics IDEntifications database

More...PRIDEi		Q8N335

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		71759

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N335

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q8N335

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

More...PhosphoSitePlusi		Q8N335

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000152642, Expressed in myocardium and 244 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N335, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N335, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000152642, Tissue enhanced (skeletal)

<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

Interacts with SCN5A.

2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116783, 38 interactors

Protein interaction database and analysis system

More...IntActi		Q8N335, 11 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000282541

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8N335, 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

Secondary structure

1351
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8N335

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q8N335

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni271 – 272Substrate binding2

<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 NAD-dependent glycerol-3-phosphate dehydrogenase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2711, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000003114

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_033449_2_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8N335

Identification of Orthologs from Complete Genome Data

More...OMAi		LCCGDNT

Database of Orthologous Groups

More...OrthoDBi		476066at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8N335

TreeFam database of animal gene trees

More...TreeFami		TF300836

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.1040.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008927, 6-PGluconate_DH-like_C_sf
IPR013328, 6PGD_dom2
IPR006168, G3P_DH_NAD-dep
IPR006109, G3P_DH_NAD-dep_C
IPR017751, G3P_DH_NAD-dep_euk
IPR011128, G3P_DH_NAD-dep_N
IPR036291, NAD(P)-bd_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07479, NAD_Gly3P_dh_C, 1 hit
PF01210, NAD_Gly3P_dh_N, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000114, Glycerol-3-P_dh, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00077, GPDHDRGNASE

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48179, SSF48179, 1 hit
SSF51735, SSF51735, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR03376, glycerol3P_DH, 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>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q8N335-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAAPLKVCI VGSGNWGSAV AKIIGNNVKK LQKFASTVKM WVFEETVNGR 
        60         70         80         90        100
KLTDIINNDH ENVKYLPGHK LPENVVAMSN LSEAVQDADL LVFVIPHQFI 
       110        120        130        140        150
HRICDEITGR VPKKALGITL IKGIDEGPEG LKLISDIIRE KMGIDISVLM 
       160        170        180        190        200
GANIANEVAA EKFCETTIGS KVMENGLLFK ELLQTPNFRI TVVDDADTVE 
       210        220        230        240        250
LCGALKNIVA VGAGFCDGLR CGDNTKAAVI RLGLMEMIAF ARIFCKGQVS 
       260        270        280        290        300
TATFLESCGV ADLITTCYGG RNRRVAEAFA RTGKTIEELE KEMLNGQKLQ 
       310        320        330        340        350
GPQTSAEVYR ILKQKGLLDK FPLFTAVYQI CYESRPVQEM LSCLQSHPEH 

T
Length:351
Mass (Da):38,419
Last modified:October 1, 2002 - 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:i74C3B27EEB41DE89
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JM46C9JM46_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
173Annotation score:

Annotation score:2 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>
C9JFA7C9JFA7_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
144Annotation 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>
C9K0P5C9K0P5_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
127Annotation 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>
F8WC16F8WC16_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
64Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA07648 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04404483E → K in BRGDA2; unknown pathological significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 2 PublicationsCorresponds to variant dbSNP:rs72552292EnsemblClinVar.1
Natural variantiVAR_044045124I → V in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552293EnsemblClinVar.1
Natural variantiVAR_032114178L → F. Corresponds to variant dbSNP:rs35447795Ensembl.1
Natural variantiVAR_044046273R → C in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552294EnsemblClinVar.1
Natural variantiVAR_044047280A → V in BRGDA2; unknown pathological significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells. 3 PublicationsCorresponds to variant dbSNP:rs72552291EnsemblClinVar.1

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
D42047 mRNA Translation: BAA07648.1 Different initiation.
AK292808 mRNA Translation: BAF85497.1
CH471055 Genomic DNA Translation: EAW64422.1
BC006168 mRNA Translation: AAH06168.1
BC028726 mRNA Translation: AAH28726.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33729.1

NCBI Reference Sequences

More...RefSeqi		NP_055956.1, NM_015141.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000282541; ENSP00000282541; ENSG00000152642

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23171

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23171

UCSC genome browser

More...UCSCi		uc003cew.4, human

<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
D42047 mRNA Translation: BAA07648.1 Different initiation.
AK292808 mRNA Translation: BAF85497.1
CH471055 Genomic DNA Translation: EAW64422.1
BC006168 mRNA Translation: AAH06168.1
BC028726 mRNA Translation: AAH28726.1
CCDSiCCDS33729.1
RefSeqiNP_055956.1, NM_015141.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PLAX-ray2.51A/B1-349[»]
SMRiQ8N335
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116783, 38 interactors
IntActiQ8N335, 11 interactors
STRINGi9606.ENSP00000282541

Chemistry databases

SwissLipidsiSLP:000000146

PTM databases

iPTMnetiQ8N335
MetOSiteiQ8N335
PhosphoSitePlusiQ8N335

Genetic variation databases

BioMutaiGPD1L
DMDMi74750945

Proteomic databases

EPDiQ8N335
jPOSTiQ8N335
MassIVEiQ8N335
MaxQBiQ8N335
PaxDbiQ8N335
PeptideAtlasiQ8N335
PRIDEiQ8N335
ProteomicsDBi71759

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27707, 162 antibodies

Genome annotation databases

EnsembliENST00000282541; ENSP00000282541; ENSG00000152642
GeneIDi23171
KEGGihsa:23171
UCSCiuc003cew.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23171
DisGeNETi23171

GeneCards: human genes, protein and diseases

More...GeneCardsi		GPD1L
GeneReviewsiGPD1L
HGNCiHGNC:28956, GPD1L
HPAiENSG00000152642, Tissue enhanced (skeletal)
MalaCardsiGPD1L
MIMi611777, phenotype
611778, gene
neXtProtiNX_Q8N335
OpenTargetsiENSG00000152642
Orphaneti130, Brugada syndrome
PharmGKBiPA134986345
VEuPathDBiHostDB:ENSG00000152642.10

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2711, Eukaryota
GeneTreeiENSGT00390000003114
HOGENOMiCLU_033449_2_2_1
InParanoidiQ8N335
OMAiLCCGDNT
OrthoDBi476066at2759
PhylomeDBiQ8N335
TreeFamiTF300836

Enzyme and pathway databases

PathwayCommonsiQ8N335
ReactomeiR-HSA-1483166, Synthesis of PA

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23171, 7 hits in 994 CRISPR screens

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

More...ChiTaRSi		GPD1L, human
EvolutionaryTraceiQ8N335

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

More...GenomeRNAii		23171
PharosiQ8N335, Tbio

Protein Ontology

More...PROi		PR:Q8N335
RNActiQ8N335, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000152642, Expressed in myocardium and 244 other tissues
ExpressionAtlasiQ8N335, baseline and differential
GenevisibleiQ8N335, HS

Family and domain databases

Gene3Di1.10.1040.10, 1 hit
InterProiView protein in InterPro
IPR008927, 6-PGluconate_DH-like_C_sf
IPR013328, 6PGD_dom2
IPR006168, G3P_DH_NAD-dep
IPR006109, G3P_DH_NAD-dep_C
IPR017751, G3P_DH_NAD-dep_euk
IPR011128, G3P_DH_NAD-dep_N
IPR036291, NAD(P)-bd_dom_sf
PfamiView protein in Pfam
PF07479, NAD_Gly3P_dh_C, 1 hit
PF01210, NAD_Gly3P_dh_N, 1 hit
PIRSFiPIRSF000114, Glycerol-3-P_dh, 1 hit
PRINTSiPR00077, GPDHDRGNASE
SUPFAMiSSF48179, SSF48179, 1 hit
SSF51735, SSF51735, 1 hit
TIGRFAMsiTIGR03376, glycerol3P_DH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiGPD1L_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: Q8N335
Secondary accession number(s): A8K9U3, Q14702, Q9BRM5
<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: May 15, 2007
Last sequence update: October 1, 2002
Last modified: April 7, 2021
This is version 159 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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