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

    Gene ID: 115677, updated on 10-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001039724.4NP_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:443494
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:296374
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:8250
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. NM_001171631.2NP_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:500551
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:353431
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:8307
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. NM_001171632.2NP_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:415466
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:268346
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:8222
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. NM_052946.4NP_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:365416
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:218296
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:1172
      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_005246270.2XP_005246327.1  nostrin isoform X1

      Conserved Domains (3) summary
      cd11823
      Location:479530
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:332410
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:8286
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. XM_024452662.2XP_024308430.1  nostrin isoform X5

      Conserved Domains (3) summary
      cd11823
      Location:422473
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:275353
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:8229
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_006712233.4XP_006712296.1  nostrin isoform X2

      Conserved Domains (3) summary
      cl00087
      Location:353431
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:8307
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:500518
      SH3; Src Homology 3 domain superfamily
    4. XM_017003278.2XP_016858767.1  nostrin isoform X4

    5. XM_011510540.3XP_011508842.1  nostrin isoform X3

      Conserved Domains (3) summary
      cl00087
      Location:353431
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:8307
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:500518
      SH3; Src Homology 3 domain superfamily
    6. XM_017003279.2XP_016858768.1  nostrin isoform X6

      UniProtKB/TrEMBL
      A0A0G2JPW3
      Conserved Domains (3) summary
      cd11823
      Location:422473
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:275353
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:1229
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    7. XM_047443189.1XP_047299145.1  nostrin isoform X8

    8. XM_011510543.3XP_011508845.1  nostrin isoform X7

      Conserved Domains (3) summary
      cd11823
      Location:318369
      SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
      cl00087
      Location:171249
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
      cl12013
      Location:83125
      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_054340405.1XP_054196380.1  nostrin isoform X1

    2. XM_054340409.1XP_054196384.1  nostrin isoform X5

    3. XM_054340406.1XP_054196381.1  nostrin isoform X2

    4. XM_054340408.1XP_054196383.1  nostrin isoform X4

    5. XM_054340407.1XP_054196382.1  nostrin isoform X3

    6. XM_054340410.1XP_054196385.1  nostrin isoform X6

      UniProtKB/TrEMBL
      A0A0G2JPW3
    7. XM_054340412.1XP_054196387.1  nostrin isoform X8

    8. XM_054340411.1XP_054196386.1  nostrin isoform X7

    RNA

    1. XR_008486259.1 RNA Sequence

    2. XR_008486260.1 RNA Sequence