Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23171
Gene name Gene Name - the full gene name approved by the HGNC.
Glycerol-3-phosphate dehydrogenase 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPD1L
Synonyms (NCBI Gene) Gene synonyms aliases
GPD1-L
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.3
Summary Summary of gene provided in NCBI Entrez 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, alph
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003165 hsa-miR-210-3p immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR 19826008
MIRT021568 hsa-miR-142-3p Microarray 17612493
MIRT030911 hsa-miR-21-5p Microarray 18591254
MIRT731887 hsa-miR-181a-5p Luciferase reporter assay, qRT-PCR, Western blot 28280258
MIRT731887 hsa-miR-181a-5p Luciferase reporter assay, qRT-PCR, Western blot 28280258
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002027 Process Regulation of heart rate IMP 17967977, 19666841
GO:0004367 Function Glycerol-3-phosphate dehydrogenase [NAD+] activity IBA 21873635
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IDA 17967977
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611778 28956 ENSG00000152642
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrioventricular block First degree atrioventricular block rs766840243, rs763809932
Brugada syndrome Brugada Syndrome (disorder), Brugada Syndrome 2, Brugada Syndrome 1, Brugada syndrome rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776
View all (97 more)
17967977, 19666841, 18762705, 17967976, 19745168, 16301704
Sick sinus syndrome Sick Sinus Syndrome rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276
Ventricular fibrillation Ventricular Fibrillation rs137854604, rs587782933, rs190140598
Unknown
Disease term Disease name Evidence References Source
Brugada Syndrome Brugada syndrome 1 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35996717
Adenocarcinoma of Lung Inhibit 37035759
Arrhythmias Cardiac Associate 21685173, 29077258
Brugada Syndrome Associate 19666841, 29077258, 31627867, 33797273, 38036776
Carcinoma Hepatocellular Associate 37685919
Carcinoma Renal Cell Inhibit 37382962
Colonic Neoplasms Associate 34564978
Colorectal Neoplasms Associate 32953885, 37382962
Congenital heart block Associate 29077258
Coronary Artery Disease Associate 21685173