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 p... See more...

Aliases for NOSTRIN Gene

Aliases for NOSTRIN Gene

  • Nitric Oxide Synthase Trafficking 2 3 5
  • Nitric Oxide Synthase Trafficker 2 3 4
  • Nitric Oxide Synthase Traffic Inducer 3 4
  • ENOS-Trafficking Inducer 3 4
  • BM247 Homolog 3 4
  • Nostrin 3 4
  • Endothelial Nitric Oxide Synthase Traffic Inducer 3
  • Ortholog Of Mouse Disabled 2 Interacting Proein 2 3
  • ENOS Traffic Inducer 3
  • MGC20702 2
  • NOSTRIN 5
  • DaIP2 3

External Ids for NOSTRIN Gene

Previous GeneCards Identifiers for NOSTRIN Gene

  • GC02P168186
  • GC02P169607
  • GC02P169861
  • GC02P169469
  • GC02P169367
  • GC02P161522
  • GC02P169643

Summaries for NOSTRIN Gene

Entrez Gene Summary for NOSTRIN Gene

  • 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]

GeneCards Summary for NOSTRIN Gene

NOSTRIN (Nitric Oxide Synthase Trafficking) is a Protein Coding gene. Diseases associated with NOSTRIN include Eclampsia and Pre-Eclampsia. Among its related pathways are eNOS activation and regulation and Nanog in Mammalian ESC Pluripotency. An important paralog of this gene is SH3KBP1.

UniProtKB/Swiss-Prot Summary for NOSTRIN Gene

  • Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane.

Additional gene information for NOSTRIN Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOSTRIN Gene

Genomics for NOSTRIN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NOSTRIN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J168801 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 609.3 +16.6 16581 3.6 CREB1 ZNF512 LEF1 IKZF1 JUND FOXA1 MTA2 PHF21A PKNOX1 NR2C1 NOSTRIN CERS6-AS1 RF00761-001 G6PC2
GH02J168787 Enhancer 0.3 Ensembl 600.7 +0.8 761 0.2 ADNP CERS6-AS1 NOSTRIN RF00761-001 G6PC2
GH02J168851 Enhancer 1.1 Ensembl ENCODE 12 +65.7 65662 1.2 LEF1 IKZF1 JUND DDX20 MTA2 PKNOX1 MTA1 REST ZNF24 BRD9 G6PC2 NOSTRIN NONHSAG029753.2 lnc-ABCB11-1 SPC25
GH02J168796 Enhancer 1.1 Ensembl ENCODE 6.1 +11.6 11561 4.2 TEAD4 LEF1 IKZF1 JUND ETV6 PRDM1 DDX20 ZIC2 PKNOX1 MTA1 PPIG PHOSPHO2 NOSTRIN G6PC2 CERS6-AS1 RF00761-001
GH02J168750 Enhancer 0.9 Ensembl ENCODE 6.8 -32.7 -32745 11.6 CTCF IKZF1 GABPA REST RAD21 ETV6 EP300 CBX3 EGR1 RUNX3 NOSTRIN CERS6-AS1 G6PC2 piR-58297-269 CERS6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOSTRIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOSTRIN

Top Transcription factor binding sites by QIAGEN in the NOSTRIN gene promoter:
  • aMEF-2
  • CREB
  • deltaCREB
  • MEF-2A
  • RORalpha2
  • Sox5

Genomic Locations for NOSTRIN Gene

Genomic Locations for NOSTRIN Gene
chr2:168,786,539-168,865,514
(GRCh38/hg38)
Size:
78,976 bases
Orientation:
Plus strand
chr2:169,643,049-169,722,024
(GRCh37/hg19)
Size:
78,976 bases
Orientation:
Plus strand

Genomic View for NOSTRIN Gene

Genes around NOSTRIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOSTRIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOSTRIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOSTRIN Gene

Proteins for NOSTRIN Gene

  • Protein details for NOSTRIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVI9-NOSTN_HUMAN
    Recommended name:
    Nostrin
    Protein Accession:
    Q8IVI9
    Secondary Accessions:
    • A8K2I9
    • B3KSF5
    • E7EPT9
    • Q27HG3
    • Q53S62
    • Q96CJ9

    Protein attributes for NOSTRIN Gene

    Size:
    506 amino acids
    Molecular mass:
    57660 Da
    Quaternary structure:
    • Homotrimer. Interacts with DAB2 (By similarity). Interacts with NOS3, DNM2, WASL and CAV1.
    Miscellaneous:
    • [Isoform 3]: May negatively regulate transcription of the NOSTRIN gene.

    Three dimensional structures from OCA and Proteopedia for NOSTRIN Gene

    Alternative splice isoforms for NOSTRIN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOSTRIN Gene

Post-translational modifications for NOSTRIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Boster Bio Antibodies for NOSTRIN

No data available for DME Specific Peptides for NOSTRIN Gene

Domains & Families for NOSTRIN Gene

Gene Families for NOSTRIN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NOSTRIN Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Cdc15/Fes/CIP4
  • Protein kinase PKN/PRK1, effector
ProtoNet:

Suggested Antigen Peptide Sequences for NOSTRIN Gene

GenScript: Design optimal peptide antigens:
  • Nitric oxide synthase trafficker, isoform CRA_a (D3DPB9_HUMAN)
  • eNOS-trafficking inducer (NOSTN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IVI9

UniProtKB/Swiss-Prot:

NOSTN_HUMAN :
  • The SH3 domain mediates interaction with NOS3, DNM2 and WASL.
Domain:
  • The SH3 domain mediates interaction with NOS3, DNM2 and WASL.
  • The F-BAR domain is necessary for membrane targeting.
genes like me logo Genes that share domains with NOSTRIN: view

Function for NOSTRIN Gene

Molecular function for NOSTRIN Gene

UniProtKB/Swiss-Prot Function:
Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane.

Phenotypes From GWAS Catalog for NOSTRIN Gene

Gene Ontology (GO) - Molecular Function for NOSTRIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 12446846
genes like me logo Genes that share ontologies with NOSTRIN: view
genes like me logo Genes that share phenotypes with NOSTRIN: view

Animal Models for NOSTRIN Gene

MGI Knock Outs for NOSTRIN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOSTRIN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NOSTRIN Gene

Localization for NOSTRIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOSTRIN Gene

[Isoform 1]: Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasmic vesicle. Cytoplasm, cytoskeleton. Note=Enriched in selected actin structures (PubMed:16234328, PubMed:16376344).
[Isoform 3]: Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOSTRIN gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 4
cytosol 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NOSTRIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NOSTRIN: view

Pathways & Interactions for NOSTRIN Gene

genes like me logo Genes that share pathways with NOSTRIN: view

Pathways by source for NOSTRIN Gene

1 Qiagen pathway for NOSTRIN Gene
  • eNOS Signaling

Gene Ontology (GO) - Biological Process for NOSTRIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
GO:0050999 regulation of nitric-oxide synthase activity TAS --
genes like me logo Genes that share ontologies with NOSTRIN: view

No data available for SIGNOR curated interactions for NOSTRIN Gene

Drugs & Compounds for NOSTRIN Gene

(1) Drugs for NOSTRIN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with NOSTRIN: view

Transcripts for NOSTRIN Gene

mRNA/cDNA for NOSTRIN Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOSTRIN

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOSTRIN Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22
SP1: - - -
SP2: -
SP3: -
SP4:

Relevant External Links for NOSTRIN Gene

GeneLoc Exon Structure for
NOSTRIN

Expression for NOSTRIN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOSTRIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NOSTRIN Gene

This gene is overexpressed in Spleen (14.9), Lung (9.1), Placenta (8.8), Urine (7.0), and Islet of Langerhans (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NOSTRIN Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOSTRIN

SOURCE GeneReport for Unigene cluster for NOSTRIN Gene:

Hs.189780

mRNA Expression by UniProt/SwissProt for NOSTRIN Gene:

Q8IVI9-NOSTN_HUMAN
Tissue specificity: Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level).

Evidence on tissue expression from TISSUES for NOSTRIN Gene

  • Eye(5)
  • Intestine(4.3)
  • Thyroid gland(4.2)
  • Heart(2.7)
  • Kidney(2.4)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with NOSTRIN: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOSTRIN Gene

Orthologs for NOSTRIN Gene

This gene was present in the common ancestor of animals.

Orthologs for NOSTRIN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NOSTRIN 30 31
  • 99.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NOSTRIN 30 31
  • 86.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NOSTRIN 30 31
  • 85.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nostrin 30 17 31
  • 84.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nostrin 30
  • 83.6 (n)
Oppossum
(Monodelphis domestica)
Mammalia NOSTRIN 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NOSTRIN 31
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NOSTRIN 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nostrin 30
  • 64.04 (n)
Zebrafish
(Danio rerio)
Actinopterygii nostrin 30 31
  • 56.45 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010676 30
  • 44.2 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG42388 30 31
  • 43.39 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C36E8.4 31
  • 17 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
OneToOne
Species where no ortholog for NOSTRIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NOSTRIN Gene

ENSEMBL:
Gene Tree for NOSTRIN (if available)
TreeFam:
Gene Tree for NOSTRIN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOSTRIN: view image

Paralogs for NOSTRIN Gene

Paralogs for NOSTRIN Gene

(17) SIMAP similar genes for NOSTRIN Gene using alignment to 6 proteins:

  • NOSTN_HUMAN
  • D3DPB9_HUMAN
  • E9PDM0_HUMAN
  • F8WCW8_HUMAN
  • H7BZA6_HUMAN
  • Q53TH8_HUMAN
genes like me logo Genes that share paralogs with NOSTRIN: view

Variants for NOSTRIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOSTRIN Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
721242 Likely Benign: not provided 168,811,612(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
767829 Benign: not provided 168,834,321(+) G/A MISSENSE_VARIANT
783990 Benign: not provided 168,860,907(+) C/T MISSENSE_VARIANT
790256 Likely Benign: not provided 168,860,825(+) C/T MISSENSE_VARIANT
rs479661 - p.Gly473Glu

Additional dbSNP identifiers (rs#s) for NOSTRIN Gene

Structural Variations from Database of Genomic Variants (DGV) for NOSTRIN Gene

Variant ID Type Subtype PubMed ID
dgv1184e212 CNV loss 25503493
dgv1185e212 CNV loss 25503493
esv3584164 CNV loss 25503493
esv3593319 OTHER inversion 21293372
esv999271 CNV insertion 20482838
nsv227 CNV insertion 15895083
nsv3023 CNV insertion 18451855
nsv479594 CNV novel sequence insertion 20440878
nsv479684 CNV novel sequence insertion 20440878
nsv480547 CNV novel sequence insertion 20440878
nsv480615 CNV novel sequence insertion 20440878
nsv480810 CNV novel sequence insertion 20440878
nsv481489 CNV novel sequence insertion 20440878
nsv508877 CNV insertion 20534489
nsv516627 CNV loss 19592680
nsv583599 CNV gain 21841781

Variation tolerance for NOSTRIN Gene

Residual Variation Intolerance Score: 62.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.25; 81.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOSTRIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOSTRIN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOSTRIN Gene

Disorders for NOSTRIN Gene

MalaCards: The human disease database

(2) MalaCards diseases for NOSTRIN Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
eclampsia
  • eclampsia in puerperium
pre-eclampsia
  • toxemia of pregnancy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NOSTRIN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NOSTRIN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOSTRIN Gene

Publications for NOSTRIN Gene

  1. NOSTRIN: a protein modulating nitric oxide release and subcellular distribution of endothelial nitric oxide synthase. (PMID: 12446846) Zimmermann K … Oess S (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 23
  2. NOSTRINbeta--a shortened NOSTRIN variant with a role in transcriptional regulation. (PMID: 18980613) Wiesenthal A … Siehoff-Icking A (Traffic (Copenhagen, Denmark) 2009) 3 4 23
  3. Translocation of endothelial nitric-oxide synthase involves a ternary complex with caveolin-1 and NOSTRIN. (PMID: 16807357) Schilling K … Icking A (Molecular biology of the cell 2006) 3 4 23
  4. NOSTRIN functions as a homotrimeric adaptor protein facilitating internalization of eNOS. (PMID: 16234328) Icking A … Schilling K (Journal of cell science 2005) 3 4 23
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for NOSTRIN Gene

  • Signalway ELISA kits for NOSTRIN

Sources for NOSTRIN Gene