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Protein

Glycerol-3-phosphate dehydrogenase 1-like protein

Gene

GPD1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

sn-glycerol 3-phosphate + NAD+ = glycerone phosphate + NADH.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei43NADBy similarity1
Binding sitei99NADBy similarity1
Binding sitei122SubstrateBy similarity1
Binding sitei155NAD; via amide nitrogen1 Publication1
Active sitei206Proton acceptor1
Binding sitei271NADBy similarity1
Binding sitei298NAD; via amide nitrogen1 Publication1
Binding sitei300NADBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi12 – 17NAD1 Publication6

GO - Molecular functioni

  • glycerol-3-phosphate dehydrogenase [NAD(P)+] activity Source: GO_Central
  • glycerol-3-phosphate dehydrogenase [NAD+] activity Source: Reactome
  • ion channel binding Source: BHF-UCL
  • NAD binding Source: InterPro
  • protein homodimerization activity Source: InterPro
  • sodium channel regulator activity Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
LigandNAD

Enzyme and pathway databases

ReactomeiR-HSA-1483166 Synthesis of PA

Chemistry databases

SwissLipidsiSLP:000000146

Names & Taxonomyi

Protein namesi
Recommended name:
Glycerol-3-phosphate dehydrogenase 1-like protein (EC:1.1.1.8)
Short name:
GPD1-L
Gene namesi
Name:GPD1L
Synonyms:KIAA0089
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000152642.10
HGNCiHGNC:28956 GPD1L
MIMi611778 gene
neXtProtiNX_Q8N335

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & 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.
See also OMIM:611777
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04404483E → 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_044045124I → 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_044046273R → 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_044047280A → 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 mutation

Organism-specific databases

DisGeNETi23171
GeneReviewsiGPD1L
MalaCardsiGPD1L
MIMi611777 phenotype
OpenTargetsiENSG00000152642
Orphaneti130 Brugada syndrome
PharmGKBiPA134986345

Polymorphism and mutation databases

BioMutaiGPD1L
DMDMi74750945

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002865111 – 351Glycerol-3-phosphate dehydrogenase 1-like proteinAdd BLAST351

Proteomic databases

EPDiQ8N335
MaxQBiQ8N335
PaxDbiQ8N335
PeptideAtlasiQ8N335
PRIDEiQ8N335
ProteomicsDBi71759

PTM databases

iPTMnetiQ8N335
PhosphoSitePlusiQ8N335

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

BgeeiENSG00000152642 Expressed in 231 organ(s), highest expression level in myocardium
CleanExiHS_GPD1L
ExpressionAtlasiQ8N335 baseline and differential
GenevisibleiQ8N335 HS

Interactioni

Subunit structurei

Interacts with SCN5A.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116783, 37 interactors
IntActiQ8N335, 1 interactor
STRINGi9606.ENSP00000282541

Structurei

Secondary structure

1351
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8N335
SMRiQ8N335
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N335

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni271 – 272Substrate binding2

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2711 Eukaryota
COG0240 LUCA
GeneTreeiENSGT00390000003114
HOGENOMiHOG000246855
HOVERGENiHBG003669
InParanoidiQ8N335
KOiK00006
OMAiNFRSAKH
OrthoDBiEOG091G0DO6
PhylomeDBiQ8N335
TreeFamiTF300836

Family and domain databases

Gene3Di1.10.1040.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF07479 NAD_Gly3P_dh_C, 1 hit
PF01210 NAD_Gly3P_dh_N, 1 hit
PIRSFiPIRSF000114 Glycerol-3-P_dh, 1 hit
PRINTSiPR00077 GPDHDRGNASE
SUPFAMiSSF48179 SSF48179, 1 hit
SSF51735 SSF51735, 1 hit
TIGRFAMsiTIGR03376 glycerol3P_DH, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:351
Mass (Da):38,419
Last modified:October 1, 2002 - v1
Checksum:i74C3B27EEB41DE89
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JM46C9JM46_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
173Annotation score:
C9JFA7C9JFA7_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
144Annotation score:
C9K0P5C9K0P5_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
127Annotation score:
F8WC16F8WC16_HUMAN
Glycerol-3-phosphate dehydrogenase ...
GPD1L
64Annotation score:

Sequence cautioni

The sequence BAA07648 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04404483E → 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_044045124I → 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_032114178L → F. Corresponds to variant dbSNP:rs35447795Ensembl.1
Natural variantiVAR_044046273R → 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_044047280A → 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
CCDSiCCDS33729.1
RefSeqiNP_055956.1, NM_015141.3
UniGeneiHs.82432

Genome annotation databases

EnsembliENST00000282541; ENSP00000282541; ENSG00000152642
GeneIDi23171
KEGGihsa:23171
UCSCiuc003cew.4 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS33729.1
RefSeqiNP_055956.1, NM_015141.3
UniGeneiHs.82432

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2PLAX-ray2.51A/B1-349[»]
ProteinModelPortaliQ8N335
SMRiQ8N335
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116783, 37 interactors
IntActiQ8N335, 1 interactor
STRINGi9606.ENSP00000282541

Chemistry databases

SwissLipidsiSLP:000000146

PTM databases

iPTMnetiQ8N335
PhosphoSitePlusiQ8N335

Polymorphism and mutation databases

BioMutaiGPD1L
DMDMi74750945

Proteomic databases

EPDiQ8N335
MaxQBiQ8N335
PaxDbiQ8N335
PeptideAtlasiQ8N335
PRIDEiQ8N335
ProteomicsDBi71759

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282541; ENSP00000282541; ENSG00000152642
GeneIDi23171
KEGGihsa:23171
UCSCiuc003cew.4 human

Organism-specific databases

CTDi23171
DisGeNETi23171
EuPathDBiHostDB:ENSG00000152642.10
GeneCardsiGPD1L
GeneReviewsiGPD1L
HGNCiHGNC:28956 GPD1L
MalaCardsiGPD1L
MIMi611777 phenotype
611778 gene
neXtProtiNX_Q8N335
OpenTargetsiENSG00000152642
Orphaneti130 Brugada syndrome
PharmGKBiPA134986345
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2711 Eukaryota
COG0240 LUCA
GeneTreeiENSGT00390000003114
HOGENOMiHOG000246855
HOVERGENiHBG003669
InParanoidiQ8N335
KOiK00006
OMAiNFRSAKH
OrthoDBiEOG091G0DO6
PhylomeDBiQ8N335
TreeFamiTF300836

Enzyme and pathway databases

ReactomeiR-HSA-1483166 Synthesis of PA

Miscellaneous databases

ChiTaRSiGPD1L human
EvolutionaryTraceiQ8N335
GenomeRNAii23171
PROiPR:Q8N335
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152642 Expressed in 231 organ(s), highest expression level in myocardium
CleanExiHS_GPD1L
ExpressionAtlasiQ8N335 baseline and differential
GenevisibleiQ8N335 HS

Family and domain databases

Gene3Di1.10.1040.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF07479 NAD_Gly3P_dh_C, 1 hit
PF01210 NAD_Gly3P_dh_N, 1 hit
PIRSFiPIRSF000114 Glycerol-3-P_dh, 1 hit
PRINTSiPR00077 GPDHDRGNASE
SUPFAMiSSF48179 SSF48179, 1 hit
SSF51735 SSF51735, 1 hit
TIGRFAMsiTIGR03376 glycerol3P_DH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGPD1L_HUMAN
AccessioniPrimary (citable) accession number: Q8N335
Secondary accession number(s): A8K9U3, Q14702, Q9BRM5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 145 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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