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FLASH GENE

Symbol

GPD1L

contributors: mct/npt - updated : 04-01-2010

HGNC name	glycerol-3-phosphate dehydrogenase 1-like
HGNC id	28956

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BRGS2 Brugada syndrome 2
Location	3p22.3      Physical location : 32.148.002 - 32.210.206
Synonym name	hypothetical protein KIAA0089
Synonym symbol(s)	KIAA0089
EC.number	1.1.1.8

DNA

TYPE	functioning gene
STRUCTURE	62.05 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015141 8 - 3954 NP_055956 - 351 - Valdivia (2009)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Endocrine thyroid         Hearing/Equilibrium ear         Reproductive female system uterus cervix     Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

complex

HOMOLOGY

interspecies

homolog to murine Gpd1l (94.6pc)

intraspecies

homolog to glycerol phosphate dehydrogenase (GPD1)

Homologene

FAMILY

NAD-dependent glycerol-3-phosphate dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	having a function in cell physiology and in sudden cardiac arrest (Valdivia 2009)
	involved in GPD1L pathway linking the metabolic state of the cell to I(Na) and excitability and important more generally in cardiac ischemia and heart failure (Valdivia 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

glycerol-3-phosphate dehydrogenase complex

INTERACTION

DNA

RNA

small molecule

protein

associated with SCN5A (Valdivia 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BRGS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       reduce cardiac Na+ current (I(Na)), may downregulate SCN5A by altering the oxidized to reduced NAD(H) balance and cause Brugada Syndrome (Liu 2009)

Susceptibility

to Brugada syndrome to sudden infant death syndrome

Variant & Polymorphism SNP	single-nucleotide polymorphism increasing the risk of Brugada syndrome in Japanese, minor role (Makiyama 2008)
	mutations causing a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1L precipitate a marked decrease in the peak sodium current and a potentially lethal Brugada syndrome-like proarrhythmic substrate (Van Norstrand 2007)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS