Gene Gene information from NCBI Gene database.
Entrez ID 23171
Gene name Glycerol-3-phosphate dehydrogenase 1 like
Gene symbol GPD1L
Synonyms (NCBI Gene)
GPD1-L
Chromosome 3
Chromosome location 3p22.3
Summary 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, alph
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs72552291 C>T Likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, missense variant
rs72552292 G>A Pathogenic, uncertain-significance Intron variant, coding sequence variant, missense variant
rs72552293 A>G Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs72552294 C>T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs112122950 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
486
miRTarBase ID miRNA Experiments Reference
MIRT003165 hsa-miR-210-3p immunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCR 19826008
MIRT021568 hsa-miR-142-3p Microarray 17612493
MIRT030911 hsa-miR-21-5p Microarray 18591254
MIRT731887 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 28280258
MIRT731887 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 28280258
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0002027 Process Regulation of heart rate IMP 17967977, 19666841
GO:0005515 Function Protein binding IPI 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611778 28956 ENSG00000152642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N335
Protein name Glycerol-3-phosphate dehydrogenase 1-like protein (GPD1-L) (EC 1.1.1.8)
Protein 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
PDB 2PLA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01210 NAD_Gly3P_dh_N 7 176 NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus Family
PF07479 NAD_Gly3P_dh_C 195 342 NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus Domain
Tissue specificity TISSUE SPECIFICITY: Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs. {ECO:0000269|PubMed:17967977}.
Sequence
Sequence length 351
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism   Synthesis of PA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brugada syndrome Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome (shorter-than-normal QT interval) Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME 1 ClinGen, Disgenet
ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 21685173, 29077258 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 29714131
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome Brugada syndrome Pubtator 19666841, 29077258, 31627867, 33797273, 38036776 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome Brugada Syndrome Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder) Brugada Syndrome BEFREE 17967976, 18762705, 19666841, 19745168, 29077258
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome (disorder) Brugada Syndrome LHGDN 17967977
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome (disorder) Brugada Syndrome CLINGEN_DG 17967977, 18762705, 19666841
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome 1 Brugada Syndrome CLINGEN_DG 17967977, 18762705, 19666841
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brugada Syndrome 2 Brugada Syndrome GENOMICS_ENGLAND_DG 16301704, 19666841
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome 2 Brugada Syndrome UNIPROT_DG 17967976, 17967977, 19666841, 19745168
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)