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

Gene ID: 115677, updated on 14-Nov-2024

Summary

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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

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See NOSTRIN in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene ceramide synthase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:169471049-169471548 Neighboring gene RNA, U6 small nuclear 766, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:169592586-169593086 Neighboring gene CERS6 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:169658591-169659090 Neighboring gene uncharacterized LOC124907904 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:169764453-169765248 Neighboring gene SPC25 component of NDC80 kinetochore complex Neighboring gene glucose-6-phosphatase catalytic subunit 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Nitric-Oxide Synthase trafficking inducer (NOSTRIN) is an emerging negative regulator of colon cancer progression. Paul M, et al. BMC Cancer, 2022 May 31. PMID 35642021, Free PMC Article
  2. NOSTRINbeta--a shortened NOSTRIN variant with a role in transcriptional regulation. Wiesenthal A, et al. Traffic, 2009 Jan. PMID 18980613
  3. Endothelial nitric oxide synthase traffic inducer in the umbilical vessels of the patients with pre-eclampsia. Xiang W, et al. J Huazhong Univ Sci Technolog Med Sci, 2009 Apr. PMID 19399414
  4. Nostril Differences in the Olfactory Performance in Health and Disease. Poupon D, et al. Chem Senses, 2017 Oct 1. PMID 28981819
  5. NOSTRIN: a protein modulating nitric oxide release and subcellular distribution of endothelial nitric oxide synthase. Zimmermann K, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12446846, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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].
  7. 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.
  8. 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.
  9. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Linkage and candidate gene studies of autism spectrum disorders in European populations.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC20702

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)

  1. 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

  2. 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

  3. 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

  4. 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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    168786539..168865514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. XM_017003278.2 → XP_016858767.1  nostrin isoform X4

  5. 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

  6. 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

  7. XM_047443189.1 → XP_047299145.1  nostrin isoform X8

  8. 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

RNA

  1. XR_007069110.1 RNA Sequence

  2. XR_922836.2 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315909.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1105..35154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    169244017..169322990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340405.1 → XP_054196380.1  nostrin isoform X1

  2. XM_054340409.1 → XP_054196384.1  nostrin isoform X5

  3. XM_054340406.1 → XP_054196381.1  nostrin isoform X2

  4. XM_054340408.1 → XP_054196383.1  nostrin isoform X4

  5. XM_054340407.1 → XP_054196382.1  nostrin isoform X3

  6. XM_054340410.1 → XP_054196385.1  nostrin isoform X6

  7. XM_054340412.1 → XP_054196387.1  nostrin isoform X8

  8. XM_054340411.1 → XP_054196386.1  nostrin isoform X7

RNA

  1. XR_008486259.1 RNA Sequence

  2. XR_008486260.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IVI9.2 GenPept UniProtKB/Swiss-Prot:Q8IVI9

Gene LinkOut

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