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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    glycerol-3-phosphate dehydrogenase 1-like protein
    NP_055956.1
    XP_006713131.1
    XP_054201797.1

    NCBI Reference Sequences (RefSeq)

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    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.

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