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GPD1 glycerol-3-phosphate dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 2819, updated on 11-Jun-2021

Summary

Official Symbol
GPD1provided by HGNC
Official Full Name
glycerol-3-phosphate dehydrogenase 1provided by HGNC
Primary source
HGNC:HGNC:4455
See related
Ensembl:ENSG00000167588 MIM:138420
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
GPD-C; HTGTI; GPDH-C
Summary
This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Expression
Biased expression in fat (RPKM 448.5), kidney (RPKM 83.8) and 3 other tissues See more
Orthologs
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Genomic context

See GPD1 in Genome Data Viewer
Location:
12q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (50104008..50111313)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50497791..50505096)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene acid sensing ion channel subunit 1 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 Neighboring gene cytochrome c oxidase assembly factor COX14 Neighboring gene ceramide synthase 5

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26652

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD binding IEA
Inferred from Electronic Annotation
more info
 
enables glycerol-3-phosphate dehydrogenase (quinone) activity IEA
Inferred from Electronic Annotation
more info
 
enables glycerol-3-phosphate dehydrogenase [NAD+] activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in NADH oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
involved_in gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in glycerol-3-phosphate catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glycerol-3-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glycerophosphate shuttle IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidic acid biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in positive regulation of glycolytic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
part_of glycerol-3-phosphate dehydrogenase complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic
Names
epididymis secretory sperm binding protein
glycerol-3-phosphate dehydrogenase 1 (soluble)
glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic
glycerophosphate dehydrogenase
NP_001244128.1
NP_005267.2

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_032168.1 RefSeqGene

    Range
    5190..12495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257199.2NP_001244128.1  glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI245302, AK130162, CA307120, CD244782
    Consensus CDS
    CCDS58229.1
    UniProtKB/Swiss-Prot
    P21695
    Related
    ENSP00000446768.1, ENST00000548814.1
    Conserved Domains (3) summary
    TIGR03376
    Location:5319
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))
    pfam01210
    Location:5149
    NAD_Gly3P_dh_N; NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
    pfam07479
    Location:171312
    NAD_Gly3P_dh_C; NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus
  2. NM_005276.4NP_005267.2  glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform 1

    See identical proteins and their annotated locations for NP_005267.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI245302, AK130162, BC032234, CA307120, CD244782, DC305085
    Consensus CDS
    CCDS8799.1
    UniProtKB/Swiss-Prot
    P21695
    UniProtKB/TrEMBL
    A0A024R138
    Related
    ENSP00000301149.3, ENST00000301149.8
    Conserved Domains (1) summary
    TIGR03376
    Location:5342
    glycerol3P_DH; glycerol-3-phosphate dehydrogenase (NAD(+))

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    50104008..50111313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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