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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
550
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs2044880, rs76244632 RCV005899570
RCV005905490
Brugada syndrome Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs1700699549, rs771610382, rs751567318, rs1701049565, rs751063902, rs1156887730, rs374305150, rs775043567, rs2044880, rs775843493, rs934971247, rs762018216, rs761698828, rs1700722701, rs1471870007
View all (224 more)
RCV001319402
RCV001315449
RCV001313803
RCV001323054
RCV001313689
RCV001342115
RCV001342536
RCV001351925
RCV001344855
RCV001347359
RCV001363565
RCV001369108
RCV001365022
RCV001360318
RCV001369225
RCV001366266
RCV001371456
RCV001366650
RCV001362996
RCV001411717
RCV001396910
RCV001399701
RCV001392588
RCV001416523
RCV001401404
RCV001417358
RCV001415026
RCV001430787
RCV001446106
RCV001446524
RCV001432302
RCV001426961
RCV001450359
RCV001483632
RCV001502213
RCV001506021
RCV002538534
RCV002073158
RCV002034476
RCV001966324
RCV001991953
RCV001904404
RCV001953109
RCV001891114
RCV001929940
RCV001942781
RCV001912513
RCV002023415
RCV001940751
RCV000474352
RCV001926511
RCV001899804
RCV001967262
RCV001938042
RCV001974469
RCV001985625
RCV001876514
RCV002140082
RCV002162097
RCV002154168
RCV002143320
RCV002098776
RCV000638732
RCV000793005
RCV001081825
RCV000703528
RCV002160530
RCV002173785
RCV002181478
RCV002202085
RCV002114484
RCV002212766
RCV002304038
RCV002295947
RCV000379441
RCV003099314
RCV003775792
RCV005096488
RCV003096846
RCV003120939
RCV003539424
RCV003098045
RCV003539428
RCV003103302
RCV003100137
RCV005058519
RCV005098373
RCV000168338
RCV000234652
RCV000230276
RCV000234259
RCV000229089
RCV001084739
RCV000553182
RCV003087909
RCV000554514
RCV003085796
RCV003100380
RCV003088495
RCV003100622
RCV002582263
RCV002598771
RCV002605961
RCV002628951
RCV002607875
RCV003107256
RCV002586449
RCV002580659
RCV002588961
RCV002623096
RCV002746679
RCV002785504
RCV002800211
RCV002885476
RCV002899278
RCV002923929
RCV002944175
RCV003005910
RCV001366971
RCV003057533
RCV003062077
RCV002517398
RCV000227582
RCV000230803
RCV003539473
RCV005061091
RCV000279237
RCV000541471
RCV000340059
RCV005061232
RCV003539629
RCV003539677
RCV003540070
RCV003539743
RCV003539726
RCV003540076
RCV003540172
RCV000345655
RCV003540184
RCV003540180
RCV000407103
RCV003540341
RCV003540361
RCV003540468
RCV000371056
RCV000319176
RCV003655430
RCV003655443
RCV000392090
RCV003655572
RCV003655672
RCV003655881
RCV003655845
RCV003655912
RCV003656032
RCV003654522
RCV003654582
RCV003654647
RCV003654625
RCV003654642
RCV003654693
RCV003654757
RCV003654833
RCV003654925
RCV003654868
RCV003654892
RCV003818621
RCV003846502
RCV003844532
RCV003856309
RCV003874783
RCV003882121
RCV003874138
RCV003879308
RCV003880424
RCV000638809
RCV000861814
RCV001410519
RCV001400056
RCV005055994
RCV002521772
RCV001349873
RCV001080916
RCV000460752
RCV000470293
RCV001363343
RCV002527355
RCV001858025
RCV001364366
RCV000527965
RCV000548177
RCV000546502
RCV000554072
RCV000530695
RCV000540109
RCV001087582
RCV000540555
RCV000543303
RCV001347800
RCV000862510
RCV000638759
RCV000638782
RCV001860390
RCV000638761
RCV003767774
RCV001860361
RCV001398393
RCV000638720
RCV000638695
RCV000638714
RCV001861864
RCV000701238
RCV000699546
RCV000690562
RCV000703790
RCV000706078
RCV000692557
RCV001066444
RCV000796091
RCV000812580
RCV000801448
RCV000798258
RCV001362104
RCV002068630
RCV001399191
RCV002067467
RCV000862679
RCV000866163
RCV002539382
RCV001447970
RCV001858872
RCV001053687
RCV001041176
RCV001038364
RCV001052911
RCV001045669
RCV001231252
RCV001235635
RCV001247385
RCV001248611
RCV001243600
RCV001248697
RCV001295968
RCV001302176
RCV001297994
RCV001305147
RCV001302438
RCV001306833
RCV001307200
RCV001308434
Brugada syndrome (shorter-than-normal QT interval) Conflicting classifications of pathogenicity rs72552291 RCV001192631
Brugada syndrome 2 Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs775043567, rs2044880, rs761698828, rs113202696, rs2125498333, rs1053382446, rs766733448, rs144877595, rs188138719, rs72552291, rs72552292, rs72552293, rs72552294, rs112122950, rs34278284
View all (20 more)
RCV002504565
RCV002486400
RCV002476665
RCV002506710
RCV001787249
RCV002486603
RCV002492379
RCV003114274
RCV002503620
RCV000000822
RCV000000823
RCV000000824
RCV000000825
RCV003224175
RCV002478537
RCV002498860
RCV002494518
RCV001801565
RCV002495975
RCV002502553
RCV002489127
RCV002496779
RCV002506279
RCV002506330
RCV002506329
RCV002491144
RCV002506477
RCV002483721
RCV000678918
RCV001196720
RCV002478889
RCV002477824
RCV002507474
RCV002497310
RCV002505604
RCV005400484
Associations from Text MiningDisease associations identified through Pubtator
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