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FLASH GENE

Symbol

NOS1AP

contributors: mct/npt/pgu - updated : 20-08-2012

HGNC name	nitric oxide synthase 1 (neuronal) adaptor protein
HGNC id	16859

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	300.23 kb     10 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_001126060 - - 5559 NP_001119532 23 211 - 2000 11086993 NM_014697 10 - 4464 NP_055512 56 506 - 2000 11086993 NM_001164757 10 - 4449 NP_001158229 - 501 - 2000 11086993

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

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac myocardium   Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	brain, embryonic nervous system, in the developing neocortex, expressed in postmitotic neurons in the cortical plate but not in progenitors within the ventricular zone

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, DEXRAS1
	C-terminal PDZ-binding domain mediating interactions with NOS1
	one PID domain

HOMOLOGY

interspecies

homolog to murine Nos1ap

Homologene

FAMILY

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
text	localized NOS1AP to cardiomyocyte intercalated discs (IDs) (
	NOS1AP colocalizes with both SCRIB and VANGL1 along cellular protrusions in metastatic breast cancer cells, but does not colocalize with either SCRIB or VANGL1 at cell junctions in normal breast cells

basic FUNCTION	adaptor protein that interacts with neuronal nitric-oxide synthase
	involved in signal transduction in the NMDA receptor system
	involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1
	regulator of neuronal nitric oxide synthase effected by forming a ternary complex with PSD95 and DEXRAS1
	might play a proactive role in the process of inflammation by transferring from cytoplasm to the nucleus and through the NMDA-nNOS signal pathway
	affects potentially cardiac electrical conductance and coupling and thereby regulates the QT interval through propagation defects
	is potentially a major genetic regulator of QT interval variation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	associated with EPS15 and NOTCH1
	with RASD1 form a ternary complex that enhances the ability of neuronal Nitric oxide synthase to activate RASD1

INTERACTION

DNA

RNA

small molecule

protein	with synapsins I, II, and III through an N-terminal phosphotyrosine-binding domain interaction
	interaction with RASD1, a brain-enriched member of the Ras family of small monomeric G proteins
	interacts with NOS1 to accelerate cardiac repolarization by inhibition of L-type calcium channel
	SCRIB-NOS1AP association is direct and is mediated through the phosphotyrosine-binding (PTB) domain of NOS1AP and the fourth PDZ domain of SCRIB
	in neuronal tissues, NOS1AP acts as a C-terminal PDZ domain ligand to neuronal NOS1, probably regulating translocation of NOS1 between synaptic and postsynaptic structures

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in cardiomyocytes leads to altered cellular electrophysiology

Susceptibility

to schizophrenia (SCZD9) to variation of the QT interval (cardiac repolarization) to sudden cardiac death (SCD) to sudden death in patients with coronary artery disease to variation of QT interval

Variant & Polymorphism other	common variant (rs10494366T > G, G-allele frequency 38 p100) was identified and consistently associated with QT-interval variation
	association between genetic variation within NOS1AP and SCD
	rs12084280, and rs10918859 associated with increased risk of sudden death in patients with coronary artery disease
	noncoding polymorphism (rs7539120) that maps within an enhancer of NOS1AP, affects cardiac function by increasing NOS1AP transcript expression, and is a major regulator of the QT interval

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS