UniProtKB - Q8N335 (GPD1L_HUMAN)
Protein
Glycerol-3-phosphate dehydrogenase 1-like protein
Gene
GPD1L
Organism
Homo sapiens (Human)
Status
Functioni
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; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L.2 Publications
Catalytic activityi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 122 | SubstrateBy similarity | 1 | |
Binding sitei | 155 | NAD; via amide nitrogen1 Publication | 1 | |
Active sitei | 206 | Proton acceptor | 1 | |
Binding sitei | 271 | NADBy similarity | 1 | |
Binding sitei | 298 | NAD; via amide nitrogen1 Publication | 1 | |
Binding sitei | 300 | NADBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 12 – 17 | NAD1 Publication | 6 |
GO - Molecular functioni
- ion channel binding Source: BHF-UCL
- NAD binding Source: InterPro
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Source: InterPro
- protein homodimerization activity Source: InterPro
- sodium channel regulator activity Source: BHF-UCL
GO - Biological processi
- carbohydrate metabolic process Source: InterPro
- glycerol-3-phosphate catabolic process Source: InterPro
- NADH metabolic process Source: Ensembl
- NAD metabolic process Source: BHF-UCL
- negative regulation of peptidyl-serine phosphorylation Source: BHF-UCL
- negative regulation of protein kinase C signaling Source: BHF-UCL
- phosphatidic acid biosynthetic process Source: Reactome
- positive regulation of protein localization to cell surface Source: BHF-UCL
- positive regulation of sodium ion transport Source: BHF-UCL
- regulation of heart rate Source: BHF-UCL
- regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
- regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
- ventricular cardiac muscle cell action potential Source: BHF-UCL
Keywordsi
Molecular function | Oxidoreductase |
Ligand | NAD |
Enzyme and pathway databases
PathwayCommonsi | Q8N335 |
Reactomei | R-HSA-1483166, Synthesis of PA |
Chemistry databases
SwissLipidsi | SLP:000000146 |
Names & Taxonomyi
Protein namesi | Recommended name: Glycerol-3-phosphate dehydrogenase 1-like protein (EC:1.1.1.81 Publication)Short name: GPD1-L |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28956, GPD1L |
MIMi | 611778, gene |
neXtProti | NX_Q8N335 |
VEuPathDBi | HostDB:ENSG00000152642.10 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
Note: Localized to the region of the plasma membrane.
Cytosol
- cytosol Source: GO_Central
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- plasma membrane Source: BHF-UCL
Other locations
- glycerol-3-phosphate dehydrogenase complex Source: InterPro
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Brugada syndrome 2 (BRGDA2)4 Publications
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044044 | 83 | E → K in BRGDA2; unknown pathological significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 2 PublicationsCorresponds to variant dbSNP:rs72552292EnsemblClinVar. | 1 | |
Natural variantiVAR_044045 | 124 | I → V in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552293EnsemblClinVar. | 1 | |
Natural variantiVAR_044046 | 273 | R → C in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552294EnsemblClinVar. | 1 | |
Natural variantiVAR_044047 | 280 | A → V in BRGDA2; unknown pathological significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells. 3 PublicationsCorresponds to variant dbSNP:rs72552291EnsemblClinVar. | 1 |
Keywords - Diseasei
Brugada syndrome, Disease variantOrganism-specific databases
DisGeNETi | 23171 |
GeneReviewsi | GPD1L |
MalaCardsi | GPD1L |
MIMi | 611777, phenotype |
OpenTargetsi | ENSG00000152642 |
Orphaneti | 130, Brugada syndrome |
PharmGKBi | PA134986345 |
Miscellaneous databases
Pharosi | Q8N335, Tbio |
Genetic variation databases
BioMutai | GPD1L |
DMDMi | 74750945 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000286511 | 1 – 351 | Glycerol-3-phosphate dehydrogenase 1-like proteinAdd BLAST | 351 |
Proteomic databases
EPDi | Q8N335 |
jPOSTi | Q8N335 |
MassIVEi | Q8N335 |
MaxQBi | Q8N335 |
PaxDbi | Q8N335 |
PeptideAtlasi | Q8N335 |
PRIDEi | Q8N335 |
ProteomicsDBi | 71759 |
PTM databases
iPTMneti | Q8N335 |
MetOSitei | Q8N335 |
PhosphoSitePlusi | Q8N335 |
Expressioni
Tissue specificityi
Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs.1 Publication
Gene expression databases
Bgeei | ENSG00000152642, Expressed in myocardium and 244 other tissues |
ExpressionAtlasi | Q8N335, baseline and differential |
Genevisiblei | Q8N335, HS |
Organism-specific databases
HPAi | ENSG00000152642, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Interacts with SCN5A.
2 PublicationsGO - Molecular functioni
- ion channel binding Source: BHF-UCL
- protein homodimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 116783, 38 interactors |
IntActi | Q8N335, 11 interactors |
STRINGi | 9606.ENSP00000282541 |
Miscellaneous databases
RNActi | Q8N335, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q8N335 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8N335 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 271 – 272 | Substrate binding | 2 |
Sequence similaritiesi
Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.Curated
Phylogenomic databases
eggNOGi | KOG2711, Eukaryota |
GeneTreei | ENSGT00390000003114 |
HOGENOMi | CLU_033449_2_2_1 |
InParanoidi | Q8N335 |
OMAi | LCCGDNT |
OrthoDBi | 476066at2759 |
PhylomeDBi | Q8N335 |
TreeFami | TF300836 |
Family and domain databases
Gene3Di | 1.10.1040.10, 1 hit |
InterProi | View protein in InterPro IPR008927, 6-PGluconate_DH-like_C_sf IPR013328, 6PGD_dom2 IPR006168, G3P_DH_NAD-dep IPR006109, G3P_DH_NAD-dep_C IPR017751, G3P_DH_NAD-dep_euk IPR011128, G3P_DH_NAD-dep_N IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF07479, NAD_Gly3P_dh_C, 1 hit PF01210, NAD_Gly3P_dh_N, 1 hit |
PIRSFi | PIRSF000114, Glycerol-3-P_dh, 1 hit |
PRINTSi | PR00077, GPDHDRGNASE |
SUPFAMi | SSF48179, SSF48179, 1 hit SSF51735, SSF51735, 1 hit |
TIGRFAMsi | TIGR03376, glycerol3P_DH, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q8N335-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAAAPLKVCI VGSGNWGSAV AKIIGNNVKK LQKFASTVKM WVFEETVNGR
60 70 80 90 100
KLTDIINNDH ENVKYLPGHK LPENVVAMSN LSEAVQDADL LVFVIPHQFI
110 120 130 140 150
HRICDEITGR VPKKALGITL IKGIDEGPEG LKLISDIIRE KMGIDISVLM
160 170 180 190 200
GANIANEVAA EKFCETTIGS KVMENGLLFK ELLQTPNFRI TVVDDADTVE
210 220 230 240 250
LCGALKNIVA VGAGFCDGLR CGDNTKAAVI RLGLMEMIAF ARIFCKGQVS
260 270 280 290 300
TATFLESCGV ADLITTCYGG RNRRVAEAFA RTGKTIEELE KEMLNGQKLQ
310 320 330 340 350
GPQTSAEVYR ILKQKGLLDK FPLFTAVYQI CYESRPVQEM LSCLQSHPEH
T
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JM46 | C9JM46_HUMAN | Glycerol-3-phosphate dehydrogenase ... | GPD1L | 173 | Annotation score: | ||
C9JFA7 | C9JFA7_HUMAN | Glycerol-3-phosphate dehydrogenase ... | GPD1L | 144 | Annotation score: | ||
C9K0P5 | C9K0P5_HUMAN | Glycerol-3-phosphate dehydrogenase ... | GPD1L | 127 | Annotation score: | ||
F8WC16 | F8WC16_HUMAN | Glycerol-3-phosphate dehydrogenase ... | GPD1L | 64 | Annotation score: |
Sequence cautioni
The sequence BAA07648 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044044 | 83 | E → K in BRGDA2; unknown pathological significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 2 PublicationsCorresponds to variant dbSNP:rs72552292EnsemblClinVar. | 1 | |
Natural variantiVAR_044045 | 124 | I → V in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552293EnsemblClinVar. | 1 | |
Natural variantiVAR_032114 | 178 | L → F. Corresponds to variant dbSNP:rs35447795Ensembl. | 1 | |
Natural variantiVAR_044046 | 273 | R → C in BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells. 1 PublicationCorresponds to variant dbSNP:rs72552294EnsemblClinVar. | 1 | |
Natural variantiVAR_044047 | 280 | A → V in BRGDA2; unknown pathological significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells. 3 PublicationsCorresponds to variant dbSNP:rs72552291EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D42047 mRNA Translation: BAA07648.1 Different initiation. AK292808 mRNA Translation: BAF85497.1 CH471055 Genomic DNA Translation: EAW64422.1 BC006168 mRNA Translation: AAH06168.1 BC028726 mRNA Translation: AAH28726.1 |
CCDSi | CCDS33729.1 |
RefSeqi | NP_055956.1, NM_015141.3 |
Genome annotation databases
Ensembli | ENST00000282541; ENSP00000282541; ENSG00000152642 |
GeneIDi | 23171 |
KEGGi | hsa:23171 |
UCSCi | uc003cew.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D42047 mRNA Translation: BAA07648.1 Different initiation. AK292808 mRNA Translation: BAF85497.1 CH471055 Genomic DNA Translation: EAW64422.1 BC006168 mRNA Translation: AAH06168.1 BC028726 mRNA Translation: AAH28726.1 |
CCDSi | CCDS33729.1 |
RefSeqi | NP_055956.1, NM_015141.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2PLA | X-ray | 2.51 | A/B | 1-349 | [»] | |
SMRi | Q8N335 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116783, 38 interactors |
IntActi | Q8N335, 11 interactors |
STRINGi | 9606.ENSP00000282541 |
Chemistry databases
SwissLipidsi | SLP:000000146 |
PTM databases
iPTMneti | Q8N335 |
MetOSitei | Q8N335 |
PhosphoSitePlusi | Q8N335 |
Genetic variation databases
BioMutai | GPD1L |
DMDMi | 74750945 |
Proteomic databases
EPDi | Q8N335 |
jPOSTi | Q8N335 |
MassIVEi | Q8N335 |
MaxQBi | Q8N335 |
PaxDbi | Q8N335 |
PeptideAtlasi | Q8N335 |
PRIDEi | Q8N335 |
ProteomicsDBi | 71759 |
Protocols and materials databases
Antibodypediai | 27707, 158 antibodies |
Genome annotation databases
Ensembli | ENST00000282541; ENSP00000282541; ENSG00000152642 |
GeneIDi | 23171 |
KEGGi | hsa:23171 |
UCSCi | uc003cew.4, human |
Organism-specific databases
CTDi | 23171 |
DisGeNETi | 23171 |
GeneCardsi | GPD1L |
GeneReviewsi | GPD1L |
HGNCi | HGNC:28956, GPD1L |
HPAi | ENSG00000152642, Tissue enhanced (skeletal) |
MalaCardsi | GPD1L |
MIMi | 611777, phenotype 611778, gene |
neXtProti | NX_Q8N335 |
OpenTargetsi | ENSG00000152642 |
Orphaneti | 130, Brugada syndrome |
PharmGKBi | PA134986345 |
VEuPathDBi | HostDB:ENSG00000152642.10 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2711, Eukaryota |
GeneTreei | ENSGT00390000003114 |
HOGENOMi | CLU_033449_2_2_1 |
InParanoidi | Q8N335 |
OMAi | LCCGDNT |
OrthoDBi | 476066at2759 |
PhylomeDBi | Q8N335 |
TreeFami | TF300836 |
Enzyme and pathway databases
PathwayCommonsi | Q8N335 |
Reactomei | R-HSA-1483166, Synthesis of PA |
Miscellaneous databases
BioGRID-ORCSi | 23171, 3 hits in 874 CRISPR screens |
ChiTaRSi | GPD1L, human |
EvolutionaryTracei | Q8N335 |
GenomeRNAii | 23171 |
Pharosi | Q8N335, Tbio |
PROi | PR:Q8N335 |
RNActi | Q8N335, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000152642, Expressed in myocardium and 244 other tissues |
ExpressionAtlasi | Q8N335, baseline and differential |
Genevisiblei | Q8N335, HS |
Family and domain databases
Gene3Di | 1.10.1040.10, 1 hit |
InterProi | View protein in InterPro IPR008927, 6-PGluconate_DH-like_C_sf IPR013328, 6PGD_dom2 IPR006168, G3P_DH_NAD-dep IPR006109, G3P_DH_NAD-dep_C IPR017751, G3P_DH_NAD-dep_euk IPR011128, G3P_DH_NAD-dep_N IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF07479, NAD_Gly3P_dh_C, 1 hit PF01210, NAD_Gly3P_dh_N, 1 hit |
PIRSFi | PIRSF000114, Glycerol-3-P_dh, 1 hit |
PRINTSi | PR00077, GPDHDRGNASE |
SUPFAMi | SSF48179, SSF48179, 1 hit SSF51735, SSF51735, 1 hit |
TIGRFAMsi | TIGR03376, glycerol3P_DH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GPD1L_HUMAN | |
Accessioni | Q8N335Primary (citable) accession number: Q8N335 Secondary accession number(s): A8K9U3, Q14702, Q9BRM5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | October 1, 2002 | |
Last modified: | February 10, 2021 | |
This is version 158 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families