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

    Gene ID: 115677, updated on 27-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
    • 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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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