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

Gene ID: 115677, updated on 8-Jul-2021

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
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
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Genomic context

See NOSTRIN in Genome Data Viewer
Location:
2q24.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (168786539..168865514)
105.20201022 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 RNA, U6 small nuclear 766, pseudogene Neighboring gene CERS6 antisense RNA 1 Neighboring gene SPC25 component of NDC80 kinetochore complex Neighboring gene glucose-6-phosphatase catalytic subunit 2 Neighboring gene ATP binding cassette subfamily B member 11

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

Associated conditions

Description Tests
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 transcription, DNA-templated 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
    Q8IVI9
    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/Swiss-Prot
    Q8IVI9
    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/Swiss-Prot
    Q8IVI9
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005246270.1XP_005246327.1  nostrin isoform X2

    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_024452662.1XP_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_006712233.3XP_006712296.1  nostrin isoform X1

    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_011510540.2XP_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
  5. XM_017003278.1XP_016858767.1  nostrin isoform X4

  6. XM_017003279.1XP_016858768.1  nostrin isoform X6

    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_017003280.1XP_016858769.1  nostrin isoform X8

    Conserved Domains (3) summary
    cd11823
    Location:261312
    SH3_Nostrin; Src homology 3 domain of Nitric Oxide Synthase TRaffic INducer
    cl00087
    Location:114192
    HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
    cl12013
    Location:2868
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  8. XM_011510543.2XP_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_001738600.1 RNA Sequence

  2. XR_922836.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315909.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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