NOS1AP (nitric oxide synthase 1 adaptor protein)

2007-04-01  

Identity

HGNC
NOS1AP
LOCATION
1q23.3
LOCUSID
9722
ALIAS
6330408P19Rik,CAPON,NPHS22
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9722
MIM: 605551
HGNC: 16859
Ensembl: ENSG00000198929

Variants:

dbSNP: 9722
ClinVar: 9722
TCGA: ENSG00000198929
COSMIC: NOS1AP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198929ENST00000361897O75052
ENSG00000198929ENST00000430120E9PSG0
ENSG00000198929ENST00000464284E9PIP8
ENSG00000198929ENST00000493151O75052
ENSG00000198929ENST00000530878O75052

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712688Dihydropyridine derivativesChemicalClinicalAnnotationassociatedPD
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD
PA444807Long QT SyndromeDiseaseClinicalAnnotationassociatedPD
PA447300Acquired Long QT Syndrome (aLQTS)DiseaseClinicalAnnotationassociatedPD19247217
PA448383amiodaroneChemicalClinicalAnnotationassociatedPD
PA449390dolasetronChemicalClinicalAnnotationassociatedPD21663814
PA449809granisetronChemicalClinicalAnnotationassociatedPD21663814
PA451234repaglinideChemicalClinicalAnnotationassociatedPD
PA451868verapamilChemicalClinicalAnnotationassociatedPD19247217

References

Pubmed IDYearTitleCitations
166488502006A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.212
166488502006A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.212
193054082009Common variants at ten loci influence QT interval duration in the QTGEN Study.190
193054092009Common variants at ten loci modulate the QT interval duration in the QTSCD Study.162
180774262007Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.131
198228062009NOS1AP is a genetic modifier of the long-QT syndrome.86
198228062009NOS1AP is a genetic modifier of the long-QT syndrome.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192043062009Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations.82
192043062009Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations.82

Citation

Dessen P

NOS1AP (nitric oxide synthase 1 adaptor protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47436/nos1ap