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FLASH GENE

Symbol

ISYNA1

contributors: mct - updated : 05-10-2013

HGNC name	inositol-3-phosphate synthase 1
HGNC id	29821

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	3.91 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	a TATA-like element, but no canonical TATA box

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_001170938 10 - 2265 NP_001164409 - 504 - 2009 1918836 NM_016368 11 - 2427 NP_057452 61.1 558 - 2009 1918836 NM_001253389 8 - 2131 NP_001240318 - 430 - 2009 1918836

EXPRESSION

Type

widely

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 Digestive liver       highly Homo sapiens Fetal Nervous brain       highly Homo sapiens Reproductive female system placenta     highly   male system testis     highly

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Sertoli cell Reproductive spermatid Reproductive spermatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , trimer

HOMOLOGY

interspecies

ortholog to murine Isyna1

Homologene

FAMILY

Myo-inositol-1-phosphate synthase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	involved in phospholipid biosynthesis, myo-inositol biosynthesis
	catalyzes the conversion of glucose-6-phoshate to myo-inositol-1-phosphate
	catalyzes the synthesis of myo-inositol in cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with GAPDH (delivers heme to ISYNA1 through a process that is regulated by its S-nitrosylation)

cell & other

putative target for mood-stabilizing drugs such as lithium and valproate

REGULATION

activated by

its expression can be activated exclusively by the activator and chromatin remodelers, suggesting a dispensable role of histone acetylases in ISYNA1 induction

Other

is regulated, in part, by DNA methylation and significant alterations in methylation patterns during development could have a major impact on inositol phosphate synthase expression in later life

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         spina bifida

Susceptibility

Variant & Polymorphism other	1029A>G and maternal glucose <4.5 protecting against spina-bifida

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS