GPD1L (glycerol-3-phosphate dehydrogenase 1 like)

2014-10-01  

Identity

HGNC
GPD1L
LOCATION
3p22.3
LOCUSID
23171
ALIAS
GPD1-L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23171
MIM: 611778
HGNC: 28956
Ensembl: ENSG00000152642

Variants:

dbSNP: 23171
ClinVar: 23171
TCGA: ENSG00000152642
COSMIC: GPD1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152642ENST00000282541Q8N335
ENSG00000152642ENST00000425459C9JM46
ENSG00000152642ENST00000428684F8WC16
ENSG00000152642ENST00000429432C9K0P5
ENSG00000152642ENST00000431009C9JFA7

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PAREACTOMER-HSA-1483166

References

Pubmed IDYearTitleCitations
179679772007Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.118
215554522011A hypoxia-induced positive feedback loop promotes hypoxia-inducible factor 1alpha stability through miR-210 suppression of glycerol-3-phosphate dehydrogenase 1-like.72
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
179679762007Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.50
197451682009Cardiac Na+ current regulation by pyridine nucleotides.48
196668412009GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.42
216851732011Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease.24
282802582017miR-181a Modulates Chondrocyte Apoptosis by Targeting Glycerol-3-Phosphate Dehydrogenase 1-Like Protein (GPD1L) in Osteoarthritis.9
187627052008Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome.6
187627052008Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome.6

Citation

Dessen P

GPD1L (glycerol-3-phosphate dehydrogenase 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-10-01

Online version: http://atlasgeneticsoncology.org/gene/54913/gpd1l-(glycerol-3-phosphate-dehydrogenase-1-like)