Description: Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. RefSeq Summary (NM_001204218): The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: hg19 chr12:117,645,947-117,799,607 Size: 153,661 Total Exon Count: 30 Strand: - Coding Region Position: hg19 chr12:117,653,114-117,768,874 Size: 115,761 Coding Exon Count: 29
ID:E9PH30_HUMAN DESCRIPTION: SubName: Full=Nitric oxide synthase, brain; SIMILARITY: Contains 1 PDZ (DHR) domain. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Alzheimer's disease Galimberti, D. et al. 2007, Association of a NOS1 promoter repeat with Alzheimer's disease, Neurobiol Aging 2007.
[PubMed 17418914]
asthma Wechsler ME et al. 2000, Exhaled nitric oxide in patients with asthma: association with NOS1 genotype., American journal of respiratory and critical care medicine. 2000 Dec;162(6):2043-7.
[PubMed 11112111]
These data provide a biologically tenable link between genotype at a candidate gene in a region of linkage, NOS1, and an important component of the asthmatic phenotype, FENO. We show that addition of NOS1 genotype to the case definition of asthma allows the identification of a uniform cohort of patients, with respect to FENO, that would have been indistinguishable by other physiologic criteria. Our isolation of this homogeneous cohort of patients ties together the well-established associations among asthma, increased concentrations of NO in the exhaled air of asthmatic individuals, and variations of trinucleotide repeat sequences as identified in several neurologic conditions.
Asthma Grasemann H 2000, , Biochemical and biophysical research communications. 2000 Jun;272(2):391-4.
[PubMed 10833424]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on E9PH30
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
