NOSTRIN nitric oxide synthase trafficking [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOSTRINprovided by HGNC
Official Full Name: nitric oxide synthase traffickingprovided by HGNC
Primary source: HGNC:HGNC:20203
See related: Ensembl:ENSG00000163072 MIM:607496; AllianceGenome:HGNC:20203
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DaIP2
Summary: Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
Expression: Ubiquitous expression in fat (RPKM 8.2), lung (RPKM 6.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.3

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (168786539..168865514)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (169244017..169322990)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (169643049..169722024)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nitric-Oxide Synthase trafficking inducer (NOSTRIN) is an emerging negative regulator of colon cancer progression.
Title: Nitric-Oxide Synthase trafficking inducer (NOSTRIN) is an emerging negative regulator of colon cancer progression.
The suggest that scores obtained with the worst nostril are the most efficient in detecting an olfactory disorder.
Title: Nostril Differences in the Olfactory Performance in Health and Disease.
NOSTRIN inhibited production of nitric oxide (NO) by suppressing the activation of endothelial nitric oxide synthase (eNOS).
Title: Endothelial Nitric Oxide Synthase Traffic Inducer (NOSTRIN) is a Negative Regulator of Disease Aggressiveness in Pancreatic Cancer.
no significant difference in serum level associated with preeclampsia or intrauterine growth restriction
Title: The relation of maternal serum eNOS, NOSTRIN and ADMA levels with aetiopathogenesis of preeclampsia and/or intrauterine fetal growth restriction.
This study showed that overexpression of NOSTRIN had a significant effect on eNOS activity in HUVECs and resulted in significant cellular damage.
Title: Changes in human umbilical vein endothelial cells induced by endothelial nitric oxide synthase traffic inducer.
The expression of NOSTRIN is decreased, while the activity of eNOS and the level of NO2-/NO3- increased in the testis tissue of azoospermia patients.
Title: [Expression of NOSTRIN in the testis tissue of azoospermia patients].
Results reveal an elegant mechanism of eNOS regulation by PECAM-1 through signal transducers and activators of transcription 3-mediated transcriptional control of NOSTRIN.
Title: Platelet-endothelial cell adhesion molecule-1 regulates endothelial NO synthase activity and localization through signal transducers and activators of transcription 3-dependent NOSTRIN expression.
NOSTRIN expression was increased in umbilical vessel of women with pre-eclampsia.
Title: Endothelial nitric oxide synthase traffic inducer in the umbilical vessels of the patients with pre-eclampsia.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Linkage and candidate gene studies of autism spectrum disorders in European populations.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122906 (e-PCR)
- UniSTS:135203

D2S1372 (e-PCR)
- UniSTS:71728

D2S1776 (e-PCR)
- UniSTS:14669

RH94201 (e-PCR)
- UniSTS:85853

RH18467 (e-PCR)
- UniSTS:36986

D2S2873 (e-PCR)
- UniSTS:72121

SHGC-132253 (e-PCR)
- UniSTS:170736

D2S2632 (e-PCR)
- UniSTS:37624

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: nostrin

Names: BM247 homolog; ENOS traffic inducer; eNOS-trafficking inducer; endothelial nitric oxide synthase traffic inducer; nitric oxide synthase traffic inducer; nitric oxide synthase trafficker; ortholog of mouse disabled 2 interacting proein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001039724.4 → NP_001034813.2 nostrin isoform 2

See identical proteins and their annotated locations for NP_001034813.2

Status: VALIDATED

Description

Transcript Variant: This variant is a dominant transcript and encodes a 506aa protein (isoform 2).

Source sequence(s)

AC069137, BC093072, BF114987, BP334580, BQ899074

Consensus CDS

CCDS42771.1

UniProtKB/Swiss-Prot

A8K2I9, B3KSF5, E7EPT9, Q27HG3, Q53S62, Q8IVI9, Q96CJ9

Related

ENSP00000318921.7, ENST00000317647.12

Conserved Domains (3) summary

cd11823
Location:443 → 494

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:296 → 374

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:8 → 250

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001171631.2 → NP_001165102.1 nostrin isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) has additional 5' UTR exons and an internal coding exon, as compared to variant 2. The resulting isoform (4) is the longest, and has an additional segment in the middle region, as compared to isoform 2.

Source sequence(s)

AC009475, AC069137, AK093444, BC014189, BF114987, BQ899074, DW437437

Consensus CDS

CCDS54415.1

UniProtKB/Swiss-Prot

Q8IVI9

Related

ENSP00000402140.2, ENST00000458381.6

Conserved Domains (3) summary

cd11823
Location:500 → 551

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:353 → 431

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:8 → 307

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001171632.2 → NP_001165103.1 nostrin isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' CDS, as compared to variant 2. The resulting isoform (3) lacks an internal segment, as compared to isoform 2.

Source sequence(s)

AC069137, BC014189, BF114987, BP334580, BQ899074, DQ402497

Consensus CDS

CCDS54416.1

UniProtKB/TrEMBL

A0A0G2JM79

Related

ENSP00000380392.2, ENST00000397209.6

Conserved Domains (3) summary

cd11823
Location:415 → 466

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:268 → 346

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:8 → 222

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_052946.4 → NP_443178.2 nostrin isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an internal exon in the 5' region, resulting in a downstream AUG start codon, as compared to isoform 2. The resulting isoform (1) has a shorter N-terminus, as compared to isoform 2.

Source sequence(s)

AC069137, BC014189, BF114987, BQ899074

Consensus CDS

CCDS42772.1

UniProtKB/TrEMBL

A0A0G2JM79

Related

ENSP00000404413.2, ENST00000445023.6

Conserved Domains (3) summary

cd11823
Location:365 → 416

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:218 → 296

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:1 → 172

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

168786539..168865514

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005246270.2 → XP_005246327.1 nostrin isoform X1

Conserved Domains (3) summary

cd11823
Location:479 → 530

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:332 → 410

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:8 → 286

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_024452662.2 → XP_024308430.1 nostrin isoform X5

Conserved Domains (3) summary

cd11823
Location:422 → 473

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:275 → 353

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:8 → 229

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006712233.4 → XP_006712296.1 nostrin isoform X2

Conserved Domains (3) summary

cl00087
Location:353 → 431

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:8 → 307

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl17036
Location:500 → 518

SH3; Src Homology 3 domain superfamily
XM_017003278.2 → XP_016858767.1 nostrin isoform X4
XM_011510540.3 → XP_011508842.1 nostrin isoform X3

Conserved Domains (3) summary

cl00087
Location:353 → 431

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:8 → 307

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl17036
Location:500 → 518

SH3; Src Homology 3 domain superfamily
XM_017003279.2 → XP_016858768.1 nostrin isoform X6

UniProtKB/TrEMBL

A0A0G2JPW3

Conserved Domains (3) summary

cd11823
Location:422 → 473

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:275 → 353

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:1 → 229

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_047443189.1 → XP_047299145.1 nostrin isoform X8
XM_011510543.3 → XP_011508845.1 nostrin isoform X7

Conserved Domains (3) summary

cd11823
Location:318 → 369

SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer

cl00087
Location:171 → 249

HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

cl12013
Location:83 → 125

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature