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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 56
  • GPD1-L 3 4
  • Glycerol-3-Phosphate Dehydrogenase 1-Like Protein 3
  • KIAA0089 4
  • EC 1.1.1 56

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. Gene Ontology (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.

Additional gene information for GPD1L Gene

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

Genomics for GPD1L Gene

GeneHancer (GH) Regulatory Elements for GPD1L Gene

Promoters and enhancers for GPD1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I032105 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.4 +1.4 1390 2.2 HDGF ATF1 ARID4B SIN3A ZNF2 ZNF48 ETS1 GLIS2 ZNF207 ZNF143 GPD1L ENSG00000236732 GC03M031988
GH03I032106 Enhancer 0.7 ENCODE 550.8 -0.2 -225 0.2 SOX13 SIN3A CEBPG ZNF644 ZNF335 TRIM24 FOSL2 FOS SMARCE1 ZNF3 GPD1L OSBPL10 GC03M031988
GH03I032044 Enhancer 1.1 Ensembl ENCODE 32.4 -60.1 -60137 1.4 FOXA2 MLX ARID4B DMAP1 YY1 TCF12 RXRA SP5 MXD4 REST ENSG00000252398 GPD1L ENSG00000201701 OSBPL10 GC03M031988
GH03I032145 Enhancer 1.1 Ensembl ENCODE 9.6 +40.5 40455 2.1 ATF1 FOXA2 ARNT ZNF766 ATF7 SP5 NFIL3 ATF4 SMARCA4 NBN GPD1L ENSG00000236732 GC03M031988
GH03I032109 Enhancer 1 Ensembl ENCODE 7.9 +4.8 4844 2.9 CLOCK FOXA2 NFIB NEUROD1 SIN3A RAD21 RFX5 RCOR1 GATAD2B NR2F2 GPD1L ENSG00000236732 GC03M031988
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GPD1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPD1L gene promoter:

Genomic Locations for GPD1L Gene

Genomic Locations for GPD1L Gene
chr3:32,105,689-32,168,715
(GRCh38/hg38)
Size:
63,027 bases
Orientation:
Plus strand
chr3:32,147,181-32,210,207
(GRCh37/hg19)

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

Selected DME Specific Peptides for GPD1L Gene

Q8N335:
  • CLQSHPEH
  • LEKEMLNGQKLQGP
  • KFPLFTA
  • FPLFTAVY
  • GDNTKAAVIRLGLME
  • ADLITTC
  • ENVKYLPG
  • FCETTIG
  • KLPENVVA
  • QTPNFRI
  • VAEAFARTGK
  • CGALKNIVAVGAGFCDGL
  • IEELEKEML
  • TVKMWVFEETVNGRKLT
  • VCIVGSGNWGSA
  • HENVKYL
  • GDNTKAA
  • LISDIIREKM
  • SVLMGANIA
  • LIKGIDEGP
  • ESCGVAD
  • GGRNRRVAEAFA
  • DADTVELCGALKNIVAV

Post-translational modifications for GPD1L Gene

No Post-translational modifications

Other Protein References for GPD1L Gene

Domains & Families for GPD1L Gene

Gene Families for GPD1L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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 TAS,IEA --
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

miRNA for GPD1L Gene

Clone Products

  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPD1L gene
Compartment Confidence
extracellular 5
cytosol 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPD1L Gene

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

(3) Drugs for GPD1L Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

  • Addgene plasmids for GPD1L

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for GPD1L Gene

  • Nervous system(4.8)
  • Bone marrow(4.1)
  • Heart(2.5)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPD1L Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with GPD1L: view

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 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPD1L 33 34
  • 91.62 (n)
cow
(Bos Taurus)
Mammalia GPD1L 33 34
  • 90.57 (n)
mouse
(Mus musculus)
Mammalia Gpd1l 33 16 34
  • 86.1 (n)
rat
(Rattus norvegicus)
Mammalia Gpd1l 33
  • 86.1 (n)
oppossum
(Monodelphis domestica)
Mammalia GPD1L 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPD1L 33 34
  • 80.95 (n)
lizard
(Anolis carolinensis)
Reptilia GPD1L 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpd1l 33
  • 76.15 (n)
MGC75997 33
African clawed frog
(Xenopus laevis)
Amphibia kiaa0089-prov 33
zebrafish
(Danio rerio)
Actinopterygii gpd1l 33 34
  • 76.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gpdh 34
  • 55 (a)
ManyToMany
CG3215 34
  • 37 (a)
ManyToMany
CG43343 34
  • 10 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gpdh-2 34
  • 47 (a)
ManyToMany
gpdh-1 34
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPD1 34
  • 38 (a)
ManyToMany
GPD2 34
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40610 33
  • 55.76 (n)
rice
(Oryza sativa)
Liliopsida Os01g0971600 33
  • 56.3 (n)
corn
(Zea mays)
Liliopsida Zm.3471 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1608 34
  • 56 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10864 33
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 Variation AA Info Type
rs1007252272 likely-benign, Brugada syndrome 32,138,652(+) C/T coding_sequence_variant, intron_variant, synonymous_variant
rs1041557219 uncertain-significance, Brugada syndrome 32,168,067(+) C/A/T 3_prime_UTR_variant
rs1045072710 uncertain-significance, Brugada syndrome 32,146,634(+) T/C coding_sequence_variant, missense_variant
rs1077601 likely-benign, Brugada syndrome 32,106,593(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs112122950 uncertain-significance, likely-benign, Sudden cardiac death, not provided, not specified, Brugada syndrome 32,146,636(+) G/A coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information 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: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome 2
  • brgda2
brugada syndrome
  • bangungut
sudden infant death syndrome
  • sids
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.

Additional Disease Information for GPD1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SC (Circulation research 2009) 3 4 22 58
  2. GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. (PMID: 19666841) Valdivia CR … Makielski JC (American journal of physiology. Heart and circulatory physiology 2009) 3 4 22 58
  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 SC (Circulation 2007) 3 4 22 58
  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 … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for GPD1L Gene

Sources for GPD1L Gene

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