GPD1L

protein
Name=glycerol-3-phosphate dehydrogenase 1-like
caption=


width=
HGNCid=28956
Symbol=GPD1L
AltSymbols= KIAA0089
EntrezGene=23171
OMIM=611778
RefSeq=NM_015141
UniProt= Q8N335
PDB=
ECnumber=1.1.1.8
Chromosome=3
Arm=p
Band=22.3
LocusSupplementaryData=

GPD1L is a human gene.cite journal | author = Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H | title = Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1 | journal = DNA Res. | volume = 2 | issue = 1 | pages = 37–43 | year = 1995 | pmid = 7788527 | doi = 10.1093/dnares/2.1.37 | url = ] The protein encoded by this gene contains a glycerol-3-phosphate dehydrogenase (NAD+) motif and shares 72% sequence identity with GPD1.

tructure

GPD1L contains the following domains:cite journal | author = London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr | title = Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias | journal = Circulation | volume = 116 | issue = 20 | pages = 2260–8 | year = 2007 | month = November | pmid = 17967977 | doi = 10.1161/CIRCULATIONAHA.107.703330 | url = ]
* N-terminal – NAD+ consensus binding site
* a site homologous to the cardiac sodium channel SCN5A
* C-terminal lysine-206 residue

Tissue distribution

Northern blot analysis detected a single GPD1L transcript in all tissues examined except liver. Highest expression was in heart and skeletal muscle.

Disease linkage

Mutations in the GPD1L gene are associated with the Brugada syndrome and sudden infant death syndrome.cite journal | author = Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ | title = Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome | journal = Circulation | volume = 116 | issue = 20 | pages = 2253–9 | year = 2007 | month = November | pmid = 17967976 | doi = 10.1161/CIRCULATIONAHA.107.704627 | url = ]

ee also

* Glycerol-3-phosphate dehydrogenase

References