GPD1L
entrez
23171
canonical
uniprot
Q8N335
canonical
ensembl
ENSG00000152642
resolver
ensp
ENSP00000282541
resolver
enst
ENST00000282541
resolver
genesymbol
GPD1L
resolver
genesymbol_syn
KIAA0089
resolver
hgnc
HGNC:28956
resolver
uniprot
A8K9U3
resolver
uniprot
Q14702
resolver
uniprot
Q9BRM5
resolver
uniprot_entry
GPD1L_HUMAN
resolver
uniprot_sec
A8K9U3
resolver
uniprot_sec
Q14702
resolver
uniprot_sec
Q9BRM5
resolver
amino_acid_sequence
MAAAPLKVCIVGSGNWGSAVAKIIGNNVKKLQKFASTVKMWVFEETVNGRKLTDIINNDHENVKYLPGHKLPENVVAMSNLSEAVQDADLLVFVIPHQFIHRICDEITGRVPKKALGITLIKGIDEGPEGLKLISDIIREKMGIDISVLMGANIANEVAAEKFCETTIGSKVMENGLLFKELLQTPNFRITVVDDADTVELCGALKNIVAVGAGFCDGLRCGDNTKAAVIRLGLMEMIAFARIFCKGQVSTATFLESCGVADLITTCYGGRNRRVAEAFARTGKTIEELEKEMLNGQKLQGPQTSAEVYRILKQKGLLDKFPLFTAVYQICYESRPVQEMLSCLQSHPEHT
uniprot
proteins
disease_involvement
DISEASE: Brugada syndrome 2 (BRGDA2) [MIM:611777]: A 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. {ECO:0000269|PubMed:17967976, ECO:0000269|PubMed:17967977, ECO:0000269|PubMed:19666841, ECO:0000269|PubMed:19745168}. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
ec_number
1.1.1.8
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:19666841, ECO:0000269|PubMed:19745168}.
uniprot
proteins
mass_dalton
38419
uniprot
proteins
protein_family
NAD-dependent glycerol-3-phosphate dehydrogenase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17967976
uniprot
proteins
pubmed
17967977
uniprot
proteins
pubmed
19666841
uniprot
proteins
pubmed
19745168
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
7788527
uniprot
proteins
sequence_length
351
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17967977}. Note=Localized to the region of the plasma membrane.
uniprot
proteins