GPD1L

Protein identityUniProt · HPA

UniProt accession

Q8N335

Gene

GPD1L

Ensembl

ENSG00000152642

Chromosome

3

Canonical length

351 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

351 residues, UniProt reviewed canonical sequence.

>Q8N335|GPD1L
     1  MAAAPLKVCI VGSGNWGSAV AKIIGNNVKK LQKFASTVKM WVFEETVNGR KLTDIINNDH
    61  ENVKYLPGHK LPENVVAMSN LSEAVQDADL LVFVIPHQFI HRICDEITGR VPKKALGITL
   121  IKGIDEGPEG LKLISDIIRE KMGIDISVLM GANIANEVAA EKFCETTIGS KVMENGLLFK
   181  ELLQTPNFRI TVVDDADTVE LCGALKNIVA VGAGFCDGLR CGDNTKAAVI RLGLMEMIAF
   241  ARIFCKGQVS TATFLESCGV ADLITTCYGG RNRRVAEAFA RTGKTIEELE KEMLNGQKLQ
   301  GPQTSAEVYR ILKQKGLLDK FPLFTAVYQI CYESRPVQEM LSCLQSHPEH T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GPD1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

237 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GPD1L.

Disease | AllUniProt

Conditions GPD1L is implicated in, by any mechanism.

• Brugada syndrome 2 (BRGDA2) MIM:611777

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0.04

gnomAD missense Z

1.08

DepMap mean gene effect

0.1

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carbohydrate metabolic process
• glycerol-3-phosphate catabolic process
• NAD+ metabolic process
• positive regulation of protein localization to cell surface
• positive regulation of sodium ion transport
• regulation of heart rate
• regulation of ventricular cardiac muscle cell membrane depolarization
• ventricular cardiac muscle cell action potential

Molecular functions

• NAD binding
• oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
• protein homodimerization activity
• sodium channel regulator activity
• transmembrane transporter binding

Cellular components

• cytosol
• extracellular exosome
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal
• Glycerol-3-phosphate dehydrogenase, NAD-dependent
• 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
• Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal
• 6-phosphogluconate dehydrogenase, domain 2
• Glycerol-3-phosphate dehydrogenase, NAD-dependent, eukaryotic
• NAD(P)-binding domain superfamily
• NAD-dependent glycerol-3-phosphate dehydrogenase N-terminus
• NAD-dependent glycerol-3-phosphate dehydrogenase C-terminus

KeywordsUniProt

• Brugada syndrome
• Cytoplasm
• NAD
• Oxidoreductase

InteractionsUniProt · HPA

Protein binding partners of GPD1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SCN5A