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    NOSIP nitric oxide synthase interacting protein [ Homo sapiens (human) ]

    Gene ID: 51070, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NOSIPprovided by HGNC
    Official Full Name
    nitric oxide synthase interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:17946
    See related
    Ensembl:ENSG00000142546 MIM:616759; AllianceGenome:HGNC:17946
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGI-25
    Summary
    The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]
    Expression
    Ubiquitous expression in testis (RPKM 21.1), lymph node (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49555468..49580556, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52555474..52580588, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50058725..50083813, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50017428-50018141 Neighboring gene Fc gamma receptor and transporter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50031176-50031754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10920 Neighboring gene reticulocalbin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50059309-50060090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14948 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50070496-50070674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50087865-50088490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10923 Neighboring gene proline rich and Gla domain 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10924 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50095111-50095610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10925 Neighboring gene proline rich 12

    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. NOS-interacting protein (NOSIP) is increased in the colon of patients with Hirschsprungs's disease. Tomuschat C, et al. J Pediatr Surg, 2017 May. PMID 28196663
    2. Cellular signaling and NO production. Michel T, et al. Pflugers Arch, 2010 May. PMID 20082095, Free PMC Article
    3. Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein. Pörschke M, et al. J Biol Chem, 2023 Mar. PMID 36690276, Free PMC Article
    4. nNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation. Sadaf S, et al. Biochim Biophys Acta Mol Cell Res, 2021 Jun. PMID 33771575
    5. Erythropoietin receptors associate with a ubiquitin ligase, p33RUL, and require its activity for erythropoietin-induced proliferation. Friedman AD, et al. J Biol Chem, 2003 Jul 18. PMID 12746455

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein.
      Title: Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein.
    2. nNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation.
      Title: nNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation.
    3. While NOSIP expression was increased in Hirschsprung's disease (HSCR) vs. non- HSCR patients, no significant difference was observed in patients with Hirschsprung's associated enterocolitis. The increased expression of NOSIP in the aganglionic and ganglionic bowel of HSCR may contribute to the development of enterocolitis by inhibiting local nitric oxide production in patients with Hirschsprung's disease.
      Title: NOS-interacting protein (NOSIP) is increased in the colon of patients with Hirschsprungs's disease.
    4. Endogenous NOSIP reduces the enzymatic capacity of eNOS, specifically in the G(2) phase of the cell cycle by targeting eNOS to the actin cytoskeleton.
      Title: Cell cycle-regulated inactivation of endothelial NO synthase through NOSIP-dependent targeting to the cytoskeleton.
    5. endothelial nitric oxide synthase (eNOS) interacting protein (NOSIP), modulator of eNOS activity by alteration of eNOS subcellular localisation; high expression levels in endothelial cells and vascularized tissue.
      Title: NOSIP, a novel modulator of endothelial nitric oxide synthase activity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    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)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables molecular sequestering activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of nitric-oxide synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of nitric oxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nitric oxide synthase-interacting protein
    Names
    E3 ubiquitin-protein ligase NOSIP
    RING-type E3 ubiquitin transferase NOSIP
    eNOS-interacting protein
    NP_001257889.1
    NP_001350578.1
    NP_057037.1
    XP_005259021.1
    XP_011525317.1
    XP_011525319.1
    XP_016882340.1
    XP_016882341.1
    XP_047294851.1
    XP_047294852.1
    XP_054177115.1
    XP_054177116.1
    XP_054177117.1
    XP_054177118.1
    XP_054177119.1
    XP_054177120.1

    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_001270960.2 → NP_001257889.1  nitric oxide synthase-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_001257889.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC009299, BE826708, DB470916
      Consensus CDS
      CCDS12772.1
      UniProtKB/Swiss-Prot
      Q96FD2, Q9Y314
      UniProtKB/TrEMBL
      A8K670
      Related
      ENSP00000470034.1, ENST00000596358.6
      Conserved Domains (2) summary
      pfam15906
      Location:4 → 78
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cd16662
      Location:220 → 284
      RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins

    2. NM_001363649.2 → NP_001350578.1  nitric oxide synthase-interacting protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC010619, AI311486, BC010077, BE786274, DB470916
      Consensus CDS
      CCDS86789.1
      UniProtKB/TrEMBL
      A0A075B6F9, A8K670
      Conserved Domains (2) summary
      pfam15906
      Location:4 → 78
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cd16662
      Location:223 → 287
      RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins

    3. NM_015953.5 → NP_057037.1  nitric oxide synthase-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_057037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC010077, BE826708, DB470916
      Consensus CDS
      CCDS12772.1
      UniProtKB/Swiss-Prot
      Q96FD2, Q9Y314
      UniProtKB/TrEMBL
      A8K670
      Conserved Domains (2) summary
      pfam15906
      Location:4 → 78
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cd16662
      Location:220 → 284
      RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49555468..49580556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258964.6 → XP_005259021.1  nitric oxide synthase-interacting protein isoform X2

      See identical proteins and their annotated locations for XP_005259021.1

      UniProtKB/TrEMBL
      A0A075B6F9, A8K670
      Related
      ENSP00000343497.3, ENST00000339093.7
      Conserved Domains (2) summary
      pfam15906
      Location:4 → 78
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cd16662
      Location:223 → 287
      RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins

    2. XM_017026851.2 → XP_016882340.1  nitric oxide synthase-interacting protein isoform X3

      UniProtKB/Swiss-Prot
      Q96FD2, Q9Y314
      UniProtKB/TrEMBL
      A8K670
      Conserved Domains (2) summary
      pfam15906
      Location:4 → 78
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cd16662
      Location:220 → 284
      RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins

    3. XM_047438895.1 → XP_047294851.1  nitric oxide synthase-interacting protein isoform X2

      UniProtKB/TrEMBL
      A0A075B6F9

    4. XM_017026852.2 → XP_016882341.1  nitric oxide synthase-interacting protein isoform X3

      UniProtKB/Swiss-Prot
      Q96FD2, Q9Y314
      UniProtKB/TrEMBL
      A8K670
      Conserved Domains (2) summary
      pfam15906
      Location:4 → 78
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cd16662
      Location:220 → 284
      RING-Ubox2_NOSIP; U-box domain 2, a modified RING finger, found in nitric oxide synthase-interacting protein (NOSIP) and similar proteins

    5. XM_011527017.3 → XP_011525319.1  nitric oxide synthase-interacting protein isoform X4

      UniProtKB/TrEMBL
      A8K670
      Conserved Domains (2) summary
      pfam15906
      Location:5 → 79
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cl17238
      Location:151 → 277
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    6. XM_011527015.3 → XP_011525317.1  nitric oxide synthase-interacting protein isoform X1

      UniProtKB/TrEMBL
      A8K670
      Conserved Domains (2) summary
      pfam15906
      Location:5 → 79
      zf-NOSIP; Zinc-finger of nitric oxide synthase-interacting protein
      cl17238
      Location:154 → 280
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    7. XM_047438896.1 → XP_047294852.1  nitric oxide synthase-interacting protein isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52555474..52580588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321141.1 → XP_054177116.1  nitric oxide synthase-interacting protein isoform X2

      UniProtKB/TrEMBL
      A0A075B6F9

    2. XM_054321142.1 → XP_054177117.1  nitric oxide synthase-interacting protein isoform X3

      UniProtKB/Swiss-Prot
      Q96FD2, Q9Y314

    3. XM_054321144.1 → XP_054177119.1  nitric oxide synthase-interacting protein isoform X3

      UniProtKB/Swiss-Prot
      Q96FD2, Q9Y314

    4. XM_054321143.1 → XP_054177118.1  nitric oxide synthase-interacting protein isoform X4

    5. XM_054321140.1 → XP_054177115.1  nitric oxide synthase-interacting protein isoform X1

    6. XM_054321145.1 → XP_054177120.1  nitric oxide synthase-interacting protein isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y314.1 GenPept UniProtKB/Swiss-Prot:Q9Y314

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