U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GPD1L glycerol-3-phosphate dehydrogenase 1 like [ Homo sapiens (human) ]

Gene ID: 23171, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
GPD1Lprovided by HGNC
Official Full Name
glycerol-3-phosphate dehydrogenase 1 likeprovided by HGNC
Primary source
HGNC:HGNC:28956
See related
Ensembl:ENSG00000152642 MIM:611778; AllianceGenome:HGNC:28956
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPD1-L
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, 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]
Expression
Broad expression in heart (RPKM 51.9), prostate (RPKM 37.6) and 23 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See GPD1L in Genome Data Viewer
Location:
3p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32106620..32168709)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32103733..32165789)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32148112..32210201)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein like 10 Neighboring gene small nucleolar RNA SNORA25 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:32139776-32139875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14166 Neighboring gene NIFK pseudogene 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69674 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69731 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:32189275-32189888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32210835-32211492 Neighboring gene small nucleolar RNA U13 Neighboring gene ribosomal protein L21 pseudogene 137 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69802 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69804 Neighboring gene ribosomal protein SA pseudogene 11

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. GPD1L is negatively associated with HIF1α expression and predicts lymph node metastasis in oral and HPV- Oropharyngeal cancer. Liu H, et al. Oral Dis, 2021 Oct. PMID 33107174
  2. A novel mutation in GPD1‑L associated with early repolarization syndrome via modulation of cardiomyocyte fast sodium currents. Fan J, et al. Int J Mol Med, 2020 Mar. PMID 31922248
  3. Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death. Huang H, et al. J Cell Mol Med, 2018 Feb. PMID 29077258, Free PMC Article
  4. A Systems Genetics Approach Identified GPD1L and its Molecular Mechanism for Obesity in Human Adipose Tissue. He H, et al. Sci Rep, 2017 May 11. PMID 28496128, Free PMC Article
  5. miR-181a Modulates Chondrocyte Apoptosis by Targeting Glycerol-3-Phosphate Dehydrogenase 1-Like Protein (GPD1L) in Osteoarthritis. Zhai X, et al. Med Sci Monit, 2017 Mar 10. PMID 28280258, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prognostic and Predictive Utility of GPD1L in Human Hepatocellular Carcinoma.
    Title: Prognostic and Predictive Utility of GPD1L in Human Hepatocellular Carcinoma.
  2. GPD1L inhibits renal cell carcinoma progression by regulating PINK1/Parkin-mediated mitophagy.
    Title: GPD1L inhibits renal cell carcinoma progression by regulating PINK1/Parkin-mediated mitophagy.
  3. Atrial myocyte-derived exosomal microRNA contributes to atrial fibrosis in atrial fibrillation.
    Title: Atrial myocyte-derived exosomal microRNA contributes to atrial fibrosis in atrial fibrillation.
  4. GPD1L is negatively associated with HIF1alpha expression and predicts lymph node metastasis in oral and HPV- Oropharyngeal cancer.
    Title: GPD1L is negatively associated with HIF1α expression and predicts lymph node metastasis in oral and HPV- Oropharyngeal cancer.
  5. A novel mutation in GPD1L associated with early repolarization syndrome via modulation of cardiomyocyte fast sodium currents.
    Title: A novel mutation in GPD1‑L associated with early repolarization syndrome via modulation of cardiomyocyte fast sodium currents.
  6. Findings indicate that downregulation of NEAT1 aggravated progression of OA via modulating the miR-181a/GPD1L axis, providing a novel insight into the mechanism of OA pathogenesis.
    Title: Long Noncoding RNA Nuclear Enriched Abundant Transcript 1 (NEAT1) Regulates Proliferation, Apoptosis, and Inflammation of Chondrocytes via the miR-181a/Glycerol-3-Phosphate Dehydrogenase 1-Like (GPD1L) Axis.
  7. This study not only further supported the important role of GPD1L in Cardiac conduction disease, but also expanded the spectrum of GPD1L mutations
    Title: Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.
  8. The elevated levels of both serum Shh and IL-6 were mainly observed in BC patients who had a significantly higher risk of early recurrence and bone metastasis, and associated with a worse survival for patients with progressive metastatic BC.
    Title: A Systems Genetics Approach Identified GPD1L and its Molecular Mechanism for Obesity in Human Adipose Tissue.
  9. Then bioinformatic analysis identified potential target sites of the miR-181a located in the 3' untranslated region of GPD1L. Increased GPD1L and decreased miRNA-181a were observed in tissues from osteoarthritis patients. Our results demonstrated that miR-181a may play an important role in the pathogenesis of Osteoarthritis through targeting GPD1L and regulating chondrocyte apoptosis.
    Title: miR-181a Modulates Chondrocyte Apoptosis by Targeting Glycerol-3-Phosphate Dehydrogenase 1-Like Protein (GPD1L) in Osteoarthritis.
  10. In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
    Title: The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Brugada syndrome 2
MedGen: C2673193 OMIM: 611777 GeneReviews: Brugada Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
EBI GWAS Catalog
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • KIAA0089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
NOT enables glycerol-3-phosphate dehydrogenase [NAD(P)+] activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sodium channel regulator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in NAD metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in NADH oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycerol-3-phosphate catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein kinase C signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of sodium ion transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of sodium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of ventricular cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
part_of glycerol-3-phosphate dehydrogenase (FAD) complex IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
glycerol-3-phosphate dehydrogenase 1-like protein
NP_055956.1
XP_006713131.1
XP_054201797.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023375.1 RefSeqGene

    Range
    5001..67205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_419

mRNA and Protein(s)

  1. NM_015141.4 → NP_055956.1  glycerol-3-phosphate dehydrogenase 1-like protein

    See identical proteins and their annotated locations for NP_055956.1

    Status: REVIEWED

    Source sequence(s)
    AI080105, AK292808, BC028726, BX283865, DA318838
    Consensus CDS
    CCDS33729.1
    UniProtKB/Swiss-Prot
    A8K9U3, Q14702, Q8N335, Q9BRM5
    Related
    ENSP00000282541.6, ENST00000282541.10
    Conserved Domains (1) summary
    TIGR03376
    Location:7 → 344
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    32106620..32168709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713068.3 → XP_006713131.1  glycerol-3-phosphate dehydrogenase 1-like protein isoform X1

    Conserved Domains (3) summary
    TIGR03376
    Location:7 → 297
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))
    pfam07479
    Location:151 → 291
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    cl21454
    Location:7 → 128
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    32103733..32165789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345822.1 → XP_054201797.1  glycerol-3-phosphate dehydrogenase 1-like protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N335.1 GenPept UniProtKB/Swiss-Prot:Q8N335

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous