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Aliases for GPD1L Gene

Aliases for GPD1L Gene

  • Glycerol-3-Phosphate Dehydrogenase 1-Like 2 3 5
  • EC 1.1.1.8 4 63
  • GPD1-L 3 4
  • KIAA0089 4
  • EC 1.1.1 63

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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and SIDS Susceptibility Pathways. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around GPD1L on UCSC Golden Path with GeneCards custom track

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

Proteomics data for GPD1L Gene at MOPED

Post-translational modifications for GPD1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPD1L Gene

Antibody Products

  • Abcam antibodies for GPD1L

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:0017080 sodium channel regulator activity IMP 17967977
GO:0051287 NAD binding 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

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

No data available for Gene Ontology (GO) - Cellular Components for GPD1L Gene

Pathways & Interactions for GPD1L Gene

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

Interacting Proteins for GPD1L Gene

Gene Ontology (GO) - Biological Process for GPD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006072 glycerol-3-phosphate metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0010765 positive regulation of sodium ion transport IMP 17967977
GO:0033137 negative regulation of peptidyl-serine phosphorylation IMP 19666841
GO:0044255 cellular lipid metabolic process TAS --
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:

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, MOPED, and MaxQB for GPD1L Gene



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

Protein tissue co-expression partners for GPD1L Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia GPD1L 35
  • 90.57 (n)
  • 97.43 (a)
GPD1L 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPD1L 35
  • 91.62 (n)
  • 95.14 (a)
GPD1L 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpd1l 35
  • 86.1 (n)
  • 95.43 (a)
Gpd1l 16
Gpd1l 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpd1l 35
  • 86.1 (n)
  • 94.57 (a)
oppossum
(Monodelphis domestica)
Mammalia GPD1L 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPD1L 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPD1L 35
  • 80.95 (n)
  • 92.57 (a)
GPD1L 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPD1L 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpd1l 35
  • 76.15 (n)
  • 84.77 (a)
MGC75997 35
African clawed frog
(Xenopus laevis)
Amphibia kiaa0089-prov 35
zebrafish
(Danio rerio)
Actinopterygii gpd1l 35
  • 76.15 (n)
  • 83.33 (a)
gpd1l 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3215 36
  • 37 (a)
ManyToMany
CG43343 36
  • 10 (a)
ManyToMany
Gpdh 36
  • 55 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gpdh-1 36
  • 43 (a)
ManyToMany
gpdh-2 36
  • 47 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPD1 36
  • 38 (a)
ManyToMany
GPD2 36
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40610 35
  • 55.76 (n)
  • 55.56 (a)
rice
(Oryza sativa)
Liliopsida Os01g0971600 35
  • 56.3 (n)
  • 53.35 (a)
corn
(Zea mays)
Liliopsida Zm.3471 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10864 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1608 36
  • 56 (a)
OneToMany
Species with no ortholog for GPD1L:
  • 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
rs35447795 - 32,146,648(+) GCCTT(C/T)TCTTC reference, missense
rs72552292 Sudden infant death syndrome (SIDS) 32,138,608(+) TTAGC(A/G)AGGCT intron-variant, reference, missense
rs72552293 Sudden infant death syndrome (SIDS) 32,140,231(+) AGGGC(A/G)TAGAC reference, missense
VAR_044046 Sudden infant death syndrome (SIDS)
rs72552291 Brugada syndrome 2 (BRGDA2) 32,159,096(+) CTTCG(C/T)CAGAA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv876676 CNV Gain 21882294
nsv3751 CNV Loss 18451855
esv2725105 CNV Deletion 23290073
esv1989208 CNV Deletion 18987734
esv1004639 CNV Deletion 20482838
nsv236695 CNV Loss 16902084
esv2725106 CNV Deletion 23290073
esv1941368 CNV Deletion 18987734
esv4935 CNV Deletion 18987735
esv2725108 CNV Deletion 23290073
esv2667075 CNV Deletion 23128226
nsv876677 CNV Loss 21882294
esv2608526 CNV Deletion 19546169
esv2280091 CNV Deletion 18987734
esv2725109 CNV Deletion 23290073
esv5199 CNV Deletion 18987735
esv2656725 CNV Deletion 23128226

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

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

Disorders for GPD1L Gene

MalaCards: The human disease database

(5) 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
cardiomyopathy
  • cardiomyopathies
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. 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 67
  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 23
  3. Cardiac Na+ current regulation by pyridine nucleotides. (PMID: 19745168) Liu M. … Dudley S.C. Jr. (Circ. Res. 2009) 3 23
  4. 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 23
  5. The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome. (PMID: 25757662) Winkel B.G. … Jespersen T. (Heart Rhythm 2015) 3

Products for GPD1L Gene

Sources for GPD1L Gene

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