Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GPD1L Gene

Aliases for GPD1L Gene

  • Glycerol-3-Phosphate Dehydrogenase 1-Like 2 3 5
  • EC 1.1.1.8 4 61
  • GPD1-L 3 4
  • Glycerol-3-Phosphate Dehydrogenase 1-Like Protein 3
  • KIAA0089 4
  • EC 1.1.1 61

External Ids for GPD1L Gene

Summaries for GPD1L Gene

Entrez Gene Summary for GPD1L Gene

  • The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]

GeneCards Summary for GPD1L Gene

GPD1L (Glycerol-3-Phosphate Dehydrogenase 1-Like) is a Protein Coding gene. Diseases associated with GPD1L include Brugada Syndrome 2 and Brugada Syndrome. Among its related pathways are Metabolism and Acyl chain remodelling of PE. GO annotations related to this gene include protein homodimerization activity and NAD binding. An important paralog of this gene is GPD1.

UniProtKB/Swiss-Prot for GPD1L Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPD1L Gene

Genomics for GPD1L Gene

Regulatory Elements for GPD1L Gene

Enhancers for GPD1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F032044 0.5 Ensembl ENCODE 32.3 -60.1 -60138 1.4 ATF1 MLX ARID4B DMAP1 YY1 SP5 MXD4 PPARG MAFF MIER3 GPD1L ENSG00000252398 ENSG00000201701
GH03F032026 0.6 Ensembl 12.4 -79.0 -78989 0.2 NFE2 GPD1L RPL21P40 GC03M031986
GH03F032145 1.1 Ensembl ENCODE 9.6 +41.1 41056 3.3 HDAC1 ATF1 TBL1XR1 INSM2 FEZF1 ZNF2 ZNF366 ZNF391 CREM THAP11 KRT18P15 GPD1L RPSAP11 ENSG00000236732
GH03F032002 0.9 Ensembl ENCODE 9.4 -102.2 -102241 1.9 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SP5 MXD4 MIER2 PPARG OSBPL10 ZNF860 GPD1L GC03M031986 RPL21P40
GH03F032109 1.2 Ensembl ENCODE 7.9 +4.8 4799 3.0 CTCF ESRRA SIN3A CEBPG RAD21 GATA3 CTBP1 PRDM10 RCOR1 ZNF600 GPD1L ENSG00000236732
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GPD1L on UCSC Golden Path with GeneCards custom track

Promoters for GPD1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001360521 1311 1601 HDGF CREB3L1 ARID4B SIN3A FEZF1 ZNF48 ZNF2 ETS1 ZNF121 GLIS2

Genomic Location for GPD1L Gene

Chromosome:
3
Start:
32,105,689 bp from pter
End:
32,168,715 bp from pter
Size:
63,027 bases
Orientation:
Plus strand

Genomic View for GPD1L Gene

Genes around GPD1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPD1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPD1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPD1L Gene

Proteins for GPD1L Gene

  • Protein details for GPD1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N335-GPD1L_HUMAN
    Recommended name:
    Glycerol-3-phosphate dehydrogenase 1-like protein
    Protein Accession:
    Q8N335
    Secondary Accessions:
    • A8K9U3
    • Q14702
    • Q9BRM5

    Protein attributes for GPD1L Gene

    Size:
    351 amino acids
    Molecular mass:
    38419 Da
    Quaternary structure:
    • Interacts with SCN5A.
    SequenceCaution:
    • Sequence=BAA07648.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GPD1L Gene

neXtProt entry for GPD1L Gene

Post-translational modifications for GPD1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPD1L Gene

Domains & Families for GPD1L Gene

Suggested Antigen Peptide Sequences for GPD1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N335

UniProtKB/Swiss-Prot:

GPD1L_HUMAN :
  • Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.
Family:
  • Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.
genes like me logo Genes that share domains with GPD1L: view

No data available for Gene Families for GPD1L Gene

Function for GPD1L Gene

Molecular function for GPD1L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
sn-glycerol 3-phosphate + NAD(+) = glycerone phosphate + NADH.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for GPD1L Gene

Gene Ontology (GO) - Molecular Function for GPD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004367 glycerol-3-phosphate dehydrogenase [NAD+] activity IEA,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0017080 sodium channel regulator activity IMP 17967977
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with GPD1L: view
genes like me logo Genes that share phenotypes with GPD1L: view

Human Phenotype Ontology for GPD1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GPD1L Gene

miRTarBase miRNAs that target GPD1L

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GPD1L

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GPD1L Gene

Localization for GPD1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPD1L Gene

Cytoplasm. Note=Localized to the region of the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPD1L Gene COMPARTMENTS Subcellular localization image for GPD1L gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GPD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 17967977
GO:0009331 glycerol-3-phosphate dehydrogenase complex IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GPD1L: view

Pathways & Interactions for GPD1L Gene

genes like me logo Genes that share pathways with GPD1L: view

Gene Ontology (GO) - Biological Process for GPD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 17967977
GO:0005975 carbohydrate metabolic process IEA --
GO:0006072 glycerol-3-phosphate metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0006734 NADH metabolic process IEA --
genes like me logo Genes that share ontologies with GPD1L: view

No data available for SIGNOR curated interactions for GPD1L Gene

Drugs & Compounds for GPD1L Gene

(2) Drugs for GPD1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(3) Additional Compounds for GPD1L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydroxyacetone phosphate
  • 1,3-Dihydroxy-2-Propanone mono(dihydrogen phosphate)
  • 1,3-Dihydroxy-2-propanone phosphate
  • 1,3-Dihydroxyacetone 1-phosphate
  • 1-Hydroxy-3-(phosphonooxy)-2-Propanone
  • 1-Hydroxy-3-(phosphonooxy)acetone
57-04-5
glycerol 3-phosphate
  • 1-(Dihydrogen phosphate) Glycerol
  • 1-Glycerophosphate
  • 1-Glycerophosphorate
  • 1-Glycerophosphoric acid
  • 3-Glycerophosphate
57-03-4
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with GPD1L: view

Transcripts for GPD1L Gene

Unigene Clusters for GPD1L Gene

Glycerol-3-phosphate dehydrogenase 1-like:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GPD1L

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPD1L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
SP1: -
SP2: - -
SP3:

Relevant External Links for GPD1L Gene

GeneLoc Exon Structure for
GPD1L
ECgene alternative splicing isoforms for
GPD1L

Expression for GPD1L Gene

mRNA expression in normal human tissues for GPD1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPD1L Gene

This gene is overexpressed in Muscle - Skeletal (x5.5) and Heart - Left Ventricle (x5.2).

Protein differential expression in normal tissues from HIPED for GPD1L Gene

This gene is overexpressed in Skin (7.7) and Heart (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GPD1L Gene



Protein tissue co-expression partners for GPD1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPD1L Gene:

GPD1L

SOURCE GeneReport for Unigene cluster for GPD1L Gene:

Hs.82432

mRNA Expression by UniProt/SwissProt for GPD1L Gene:

Q8N335-GPD1L_HUMAN
Tissue specificity: Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs.
genes like me logo Genes that share expression patterns with GPD1L: view

Primer Products

Orthologs for GPD1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPD1L Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia GPD1L 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPD1L 34 35
  • 91.62 (n)
cow
(Bos Taurus)
Mammalia GPD1L 34 35
  • 90.57 (n)
mouse
(Mus musculus)
Mammalia Gpd1l 34 16 35
  • 86.1 (n)
rat
(Rattus norvegicus)
Mammalia Gpd1l 34
  • 86.1 (n)
oppossum
(Monodelphis domestica)
Mammalia GPD1L 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPD1L 34 35
  • 80.95 (n)
lizard
(Anolis carolinensis)
Reptilia GPD1L 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpd1l 34
  • 76.15 (n)
MGC75997 34
African clawed frog
(Xenopus laevis)
Amphibia kiaa0089-prov 34
zebrafish
(Danio rerio)
Actinopterygii gpd1l 34 35
  • 76.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gpdh 35
  • 55 (a)
ManyToMany
CG3215 35
  • 37 (a)
ManyToMany
CG43343 35
  • 10 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gpdh-2 35
  • 47 (a)
ManyToMany
gpdh-1 35
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPD1 35
  • 38 (a)
ManyToMany
GPD2 35
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40610 34
  • 55.76 (n)
rice
(Oryza sativa)
Liliopsida Os01g0971600 34
  • 56.3 (n)
corn
(Zea mays)
Liliopsida Zm.3471 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1608 35
  • 56 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10864 34
Species where no ortholog for GPD1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPD1L Gene

ENSEMBL:
Gene Tree for GPD1L (if available)
TreeFam:
Gene Tree for GPD1L (if available)

Paralogs for GPD1L Gene

Paralogs for GPD1L Gene

(1) SIMAP similar genes for GPD1L Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GPD1L: view

Variants for GPD1L Gene

Sequence variations from dbSNP and Humsavar for GPD1L Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs72552291 Brugada syndrome 2 (BRGDA2) [MIM:611777], Pathogenic 32,159,096(+) CTTCG(C/T)CAGAA reference, missense
rs72552292 Sudden infant death syndrome (SIDS) [MIM:272120], Pathogenic 32,138,608(+) TTAGC(A/G)AGGCT intron-variant, reference, missense
rs72552293 Sudden infant death syndrome (SIDS) [MIM:272120], Pathogenic 32,140,231(+) AGGGC(A/G)TAGAC reference, missense
rs72552294 Sudden infant death syndrome (SIDS) [MIM:272120], Pathogenic 32,159,074(+) GGAAC(C/T)GCAGG reference, missense
rs113645050 Likely benign 32,140,326(+) ATTGC(C/T)AATGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for GPD1L Gene

Variant ID Type Subtype PubMed ID
dgv2504n106 CNV deletion 24896259
esv1004639 CNV deletion 20482838
esv1941368 CNV deletion 18987734
esv1989208 CNV deletion 18987734
esv2280091 CNV deletion 18987734
esv2608526 CNV deletion 19546169
esv2656725 CNV deletion 23128226
esv2667075 CNV deletion 23128226
esv2725105 CNV deletion 23290073
esv2725106 CNV deletion 23290073
esv2725108 CNV deletion 23290073
esv2725109 CNV deletion 23290073
esv2837236 CNV deletion 24192839
esv3561696 CNV deletion 23714750
esv3561697 CNV deletion 23714750
esv3561698 CNV deletion 23714750
esv4935 CNV loss 18987735
esv5199 CNV loss 18987735
nsv1003110 CNV gain 25217958
nsv1003285 CNV gain 25217958
nsv1011573 CNV gain 25217958
nsv1072677 CNV deletion 25765185
nsv1072678 CNV deletion 25765185
nsv1074581 CNV deletion 25765185
nsv1148247 CNV deletion 26484159
nsv1148498 CNV deletion 26484159
nsv236695 CNV deletion 16902084
nsv3751 CNV deletion 18451855
nsv473007 CNV novel sequence insertion 20440878
nsv979814 CNV duplication 23825009

Variation tolerance for GPD1L Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPD1L Gene

Human Gene Mutation Database (HGMD)
GPD1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPD1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPD1L Gene

Disorders for GPD1L Gene

MalaCards: The human disease database

(4) MalaCards diseases for GPD1L Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome 2
  • brgda2
brugada syndrome
  • sudden unexpected nocturnal death syndrome
sudden infant death syndrome
  • cot death
right bundle branch block
  • right bundle branch block with left posterior fascicular block
- elite association - COSMIC cancer census association via MalaCards
Search GPD1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPD1L_HUMAN
  • Brugada syndrome 2 (BRGDA2) [MIM:611777]: A 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. {ECO:0000269 PubMed:17967977}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO:0000269 PubMed:17967976}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for GPD1L

Genetic Association Database (GAD)
GPD1L
Human Genome Epidemiology (HuGE) Navigator
GPD1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPD1L
genes like me logo Genes that share disorders with GPD1L: view

No data available for Genatlas for GPD1L Gene

Publications for GPD1L Gene

  1. Cardiac Na+ current regulation by pyridine nucleotides. (PMID: 19745168) Liu M. … Dudley S.C. Jr. (Circ. Res. 2009) 3 4 22 64
  2. GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. (PMID: 19666841) Valdivia C.R. … Makielski J.C. (Am. J. Physiol. 2009) 3 4 22 64
  3. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. (PMID: 17967977) London B. … Dudley S.C. Jr. (Circulation 2007) 3 4 22 64
  4. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T. … Nomura N. (DNA Res. 1995) 2 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for GPD1L Gene

Sources for GPD1L Gene

Content
Loading form....