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

Gene ID: 23171, updated on 22-Aug-2020

Summary

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
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

Genomic context

See GPD1L in Genome Data Viewer
Location:
3p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (32106620..32168715)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32148003..32210207)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 40 Neighboring gene nucleolar protein interacting with the FHA domain of MKI67 pseudogene 7 Neighboring gene ribosomal protein SA pseudogene 11 Neighboring gene CKLF like MARVEL transmembrane domain containing 8 Neighboring gene keratin 18 pseudogene 15

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Brugada syndrome 2
MedGen: C2673193 OMIM: 611777 GeneReviews: Brugada Syndrome
Compare labs
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
GeneReviews: Not available
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IEA
Inferred from Electronic Annotation
more info
 
NOT glycerol-3-phosphate dehydrogenase [NAD+] activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sodium channel regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
glycerol-3-phosphate dehydrogenase complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_015141.4NP_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
    Q8N335
    Related
    ENSP00000282541.5, ENST00000282541.9
    Conserved Domains (1) summary
    TIGR03376
    Location:7344
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    32106620..32168715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713068.2XP_006713131.1  glycerol-3-phosphate dehydrogenase 1-like protein isoform X1

    Conserved Domains (3) summary
    TIGR03376
    Location:7297
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))
    pfam07479
    Location:151291
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
    cl21454
    Location:7128
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
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