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NISCH Gene

protein-coding   GIFtS: 65
GCID: GC03P052489

Nischarin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
nischarin1 2     I1R Candidate Protein2 3
I-1 Receptor Candidate Protein1 2 3     KIAA09753 5
IRAS2 3 5     Imidazoline Receptor Candidate1
Imidazoline Receptor Antisera Selected1 2     I1R3
Imidazoline Receptor 12 3     Imidazoline Receptor Antisera-Selected Protein3
I-12 3     Imidazoline-1 Receptor3
IR12 3     Imidazoline-1 Receptor Candidate Protein3
hIRAS2 3     

External Ids:    HGNC: 180061   Entrez Gene: 111882   Ensembl: ENSG000000103227   OMIM: 6155075   UniProtKB: Q9Y2I13   

Export aliases for NISCH gene to outside databases

Previous GC identifers: GC03P051581 GC03P051741 GC03P052345 GC03P052447 GC03P052464


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NISCH Gene:
This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the
inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal
organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to
bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the
cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its
overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In
human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected
neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding
differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor.
(provided by RefSeq, Jan 2013)

GeneCards Summary for NISCH Gene:
NISCH (nischarin) is a protein-coding gene. Diseases associated with NISCH include rosacea, and morphine dependence. GO annotations related to this gene include integrin binding and G-protein coupled amine receptor activity. An important paralog of this gene is STK11IP.

UniProtKB/Swiss-Prot: NISCH_HUMAN, Q9Y2I1
Function: Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated
mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling
cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an
increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla
(RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with
efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By
similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses
Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also
blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response
element and cyclin D1 promoter activation (By similarity). Inhibits also LIMK1 kinase activity by reducing LIMK1
'Tyr-508' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon
epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a
role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation
of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular
endosomal structures

Gene Wiki entry for NISCH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NISCH gene promoter:
         Max1   Sp1   COUP   Olf-1   COUP-TF   Pax-4a   ATF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNISCH promoter sequence
   Search Chromatin IP Primers for NISCH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NISCH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21.1

NISCH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NISCH gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P052489:  view genomic region     (about GC identifiers)

Start:
52,489,134 bp from pter      End:
52,527,088 bp from pter
Size:
37,955 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NISCH_HUMAN, Q9Y2I1 (See protein sequence)
Recommended Name: Nischarin  
Size: 1504 amino acids; 166629 Da
Subunit: Homooligomer. Interacts with GRB2. Interacts with PIK3R1; probably associates with the PI3-kinase
complex. Interacts with IRS4. Found in a complex with ITGA5 and PAK1. Found in a complex with LIMK1 and PAK1.
Interacts with ITGA5 (via cytoplasmic domain); this interaction is direct. Interacts with PAK1 (via kinase
domain); this interaction is direct and is increased upon activation of PAK1 (By similarity). Interacts with
LIMK1 (via PDZ and kinase domain); this interaction is direct (By similarity). Interacts with LIMK2; this
interaction depends on LIMK2 activity (By similarity). Interacts with RAC1 (activated state) (By similarity).
Interacts with STK11; this interaction may increase STK11 activity
Sequence caution: Sequence=BAA76819.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for NISCH:
3P0C (3D)    
Secondary accessions: C9J245 Q6PGP3 Q6PIB4 Q7L8M3 Q7Z2X6 Q9UES6 Q9UEU4 Q9UFW3
Alternative splicing: 4 isoforms:  Q9Y2I1-1   Q9Y2I1-2   Q9Y2I1-3   Q9Y2I1-4   

Explore the universe of human proteins at neXtProt for NISCH: NX_Q9Y2I1

Explore proteomics data for NISCH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys865, Lys942, Lys1009, Lys1290, Lys1299, Lys1303
  • Modification sites at PhosphoSitePlus

  • See NISCH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001263222.1  NP_001263223.1  NP_009115.2  

    ENSEMBL proteins: 
     ENSP00000418232   ENSP00000417812   ENSP00000392484   ENSP00000339958  

    NISCH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for NISCH
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    OriGene MassSpec for NISCH
    OriGene Custom Protein Services for NISCH
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    Novus Biologicals NISCH Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NISCH

    NISCH Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NISCH
    Novus Biologicals NISCH Antibodies
    Abcam antibodies for NISCH
    Cloud-Clone Corp. Antibodies for NISCH
    Search ThermoFisher Antibodies for NISCH
    LSBio Antibodies in human, mouse, rat for NISCH

    NISCH Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NISCH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NISCH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NISCH
    Cloud-Clone Corp. CLIAs for NISCH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR001683 Phox

    Graphical View of Domain Structure for InterPro Entry Q9Y2I1

    ProtoNet protein and cluster: Q9Y2I1

    1 Blocks protein domain: IPB001683 Phox-like

    UniProtKB/Swiss-Prot: NISCH_HUMAN, Q9Y2I1
    Domain: Both the presence of the PX domain and the coiled coil region are necessary for its endosomal targeting
    Similarity: Contains 6 LRR (leucine-rich) repeats
    Similarity: Contains 1 PX (phox homology) domain


    NISCH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NISCH_HUMAN, Q9Y2I1
    Function: Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated
    mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling
    cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an
    increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla
    (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with
    efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By
    similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses
    Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also
    blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response
    element and cyclin D1 promoter activation (By similarity). Inhibits also LIMK1 kinase activity by reducing LIMK1
    'Tyr-508' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon
    epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a
    role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation
    of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular
    endosomal structures

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005515protein binding ----
    GO:0008227G-protein coupled amine receptor activity IEA--
    GO:0035091phosphatidylinositol binding IEA--
         
    NISCH for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Nisch (no phenotypes)

    NISCH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nischtm1Lex for NISCH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NISCH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NISCH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NISCH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NISCH

    miRNA
    Products:
        
    miRTarBase miRNAs that target NISCH:
    hsa-mir-16-5p (MIRT051287), hsa-mir-455-3p (MIRT037847)

    Block miRNA regulation of human, mouse, rat NISCH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NISCH (see all 11):
    hsa-miR-374b* hsa-miR-3673 hsa-miR-15a hsa-miR-503 hsa-miR-497 hsa-miR-646 hsa-miR-424 hsa-miR-16
    SwitchGear 3'UTR luciferase reporter plasmidNISCH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NISCH
    Predesigned siRNA for gene silencing in human, mouse, rat NISCH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NISCH

    Clone
    Products:
         
    OriGene clones in human, mouse for NISCH (see all 6)
    OriGene ORF clones in mouse, rat for NISCH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NISCH (NM_007184)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NISCH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NISCH

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NISCH
    Browse ESI BIO Cell Lines and PureStem Progenitors for NISCH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NISCH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NISCH_HUMAN, Q9Y2I1: Cell membrane. Cytoplasm. Early endosome. Recycling endosome. Note=Enriched in the
    early/sorting and recycling endosomes. Colocalized in early/sorting endosomes with EEA1 and SNX2 and in recycling
    endosomes with transferrin receptor. Detected in the perinuclear region partially associated with punctate
    structures (By similarity). Colocalizes with PAK1 in cytoplasm, vesicular structures in the perinuclear area and
    membrane ruffles (By similarity). Colocalizes with RAC1 in the cytoplasm and vesicles structures (By similarity).
    Colocalized with MAPK1 and MAPK3 in RVLM neurons (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytosol4
    cytoskeleton1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IEA--
    GO:0005829cytosol IDA15028622
    GO:0005886plasma membrane IDA15028622
    GO:0016020membrane ----
    GO:0055037recycling endosome IEA--

    NISCH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NISCH About    
    See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Fibronectin binding integrins in cell motility0.32
    2Hypothetical Network for Drug Addiction
    Hypothetical Network for Drug Addiction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for NISCH
        Cytoskeleton remodeling Fibronectin-binding integrins in cell motility

    1 BioSystems Pathway for NISCH
        Hypothetical Network for Drug Addiction


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NISCH
    Interactions:

        GeneGlobe Interaction Network for NISCH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for NISCH (Q9Y2I13 ENSP000003399584) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102753, ENSP000003638224I2D: score=1 STRING: ENSP00000363822
    IRS2Q9Y4H23, ENSP000003650164I2D: score=1 STRING: ENSP00000365016
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    ITGA5P086483, ENSP000002933794I2D: score=3 STRING: ENSP00000293379
    IRS1P355683, ENSP000003048954I2D: score=1 STRING: ENSP00000304895
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process IEA--
    GO:0006915apoptotic process IEA--
    GO:0007154cell communication ----
    GO:0008217regulation of blood pressure IEA--
    GO:0016601Rac protein signal transduction IEA--

    NISCH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for NISCH
      Browse compounds at ApexBio 

    Browse Tocris compounds for NISCH

    2 DrugBank Compounds for NISCH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Agmatine-- 306-60-5targetagonist7906055
    TizanidineTizanidina [INN-Spanish] (see all 3)51322-75-9targetagonist893017

    Selected Novoseek inferred chemical compound relationships for NISCH gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rilmenidine 96 31 7998582 (2), 1350732 (2), 1979731 (1), 9284427 (1) (see all 25)
    moxonidine 95.9 30 15028616 (2), 8068579 (1), 8872300 (1), 9284427 (1) (see all 27)
    idazoxan 90.2 10 10415909 (1), 10864097 (1), 8008210 (1), 1355439 (1) (see all 8)
    agmatine 88.4 24 17653850 (4), 9260995 (2), 10415899 (2), 7677340 (1) (see all 16)
    efaroxan 87.5 2 10580423 (1), 12189026 (1)
    clonidine 87 37 1979731 (1), 8096770 (1), 7677340 (1), 8642798 (1) (see all 31)
    benazoline 86.7 2 10825384 (1), 9208095 (1)
    guanabenz 80.7 5 14506596 (1), 7677390 (1), 12189026 (1)
    cirazoline 78.6 2 9116592 (1), 9116583 (1)
    methyldopa 76.5 3 9284427 (1), 7735264 (1)



    NISCH for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NISCH gene (3 alternative transcripts): 
    NM_001276293.1  NM_001276294.1  NM_007184.3  

    Unigene Cluster for NISCH:

    Nischarin
    Hs.435290  [show with all ESTs]
    Unigene Representative Sequence: NM_007184
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479054(uc003deg.1) ENST00000488380(uc003dec.1) ENST00000420808
    ENST00000489895 ENST00000488157 ENST00000490425 ENST00000464280 ENST00000481211
    ENST00000474188 ENST00000485765 ENST00000460759 ENST00000488243 ENST00000467594
    ENST00000345716(uc003ded.4 uc003dee.4)
    miRNA
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    Block miRNA regulation of human, mouse, rat NISCH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NISCH (see all 11):
    hsa-miR-374b* hsa-miR-3673 hsa-miR-15a hsa-miR-503 hsa-miR-497 hsa-miR-646 hsa-miR-424 hsa-miR-16
    SwitchGear 3'UTR luciferase reporter plasmidNISCH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NISCH
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NISCH (NM_007184)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NISCH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NISCH
    Primer
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    OriGene qPCR primer pairs and template standards for NISCH
    OriGene qSTAR qPCR primer pairs in human, mouse for NISCH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NISCH
      QuantiTect SYBR Green Assays in human, mouse, rat NISCH
      QuantiFast Probe-based Assays in human, mouse, rat NISCH

    Additional mRNA sequence: 

    AB023192.1 AF058290.1 AF082516.1 AK027331.1 AK027428.1 AK075000.1 AK097732.1 AK291398.1 
    AK297657.1 AK302441.1 AK315001.1 AL117432.1 AL137405.1 BC038102.2 BC050552.1 BC054494.1 
    BC056900.1 

    Selected DOTS entries (see all 31):

    DT.100665695  DT.40305252  DT.100665694  DT.91963176  DT.100863171  DT.211714  DT.100665696  DT.100665690 
    DT.120854842  DT.95200862  DT.100665693  DT.92444758  DT.100846780  DT.100665697  DT.120854855  DT.95373494 
    DT.95373496  DT.95373517  DT.102834400  DT.95194538  DT.95373499  DT.95373505  DT.100044307  DT.100665689 

    Selected AceView cDNA sequences (see all 512):

    AB023192 H10922 AA326090 BQ894921 BQ064892 BQ057015 BX952301 CA841351 
    CK430251 BG755139 T31924 AI338200 AI801671 BE263686 AA848038 BX431002 
    BQ059505 BQ062280 AA323023 AU132507 BX431001 AU279842 AI926473 BU784317 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NISCH (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b · 16c · 16d ^
    SP1:                    -           -                             -                                               -                       -     -               
    SP2:                                                                                                              -                       -     -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                              -                       -     -               
    SP5:                                                                                                                                                            

    ExUns: 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c · 19d ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c · 28d ·
    SP1:                                                                                                                                                            
    SP2:  -     -     -     -     -     -                                                                                                                           
    SP3:                                                                                                                          -                 -     -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                  -                       -                                 

    ExUns: 28e ^ 29
    SP1:            
    SP2:            
    SP3:  -         
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for NISCH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NISCH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGAGTGA
    NISCH Expression
    About this image


    NISCH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Cerebral Cortex
             Olfactory Bulb   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
     
     Uterus (Reproductive System)
    NISCH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NISCH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435290

    UniProtKB/Swiss-Prot: NISCH_HUMAN, Q9Y2I1
    Tissue specificity: Isoform 1, isoform 3 and isoform 4 are expressed in brain. Isoform 1 is expressed in endocrine
    tissues

        Custom PCR Arrays for NISCH
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NISCH gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nisch5 nischarin   --   14 (19.09 cM) 31170930 
    chicken
    (Gallus gallus)
    Aves NISCH6
    nischarin
    60(a)
    1 ↔ 1
    12(545789-580519)
    lizard
    (Anolis carolinensis)
    Reptilia NISCH6
    nischarin
    56(a)
    1 ↔ 1
    2(154564768-154601963)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW159232.12   -- 72.43(n)    AW159232.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nisch6
    nischarin
    48(a)
    1 ↔ 1
    22(10471320-10507830) ENSDARG00000043077
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118071 CG11807 47.95(n)
    40.6(a)
      36683  NM_001274061.1  NP_001260990.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F13E9.13 SD22 like protein 45(a)   IV(10871424-10873083)   --


    ENSEMBL Gene Tree for NISCH (if available)
    TreeFam Gene Tree for NISCH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NISCH gene
    STK11IP2  
    1 SIMAP similar gene for NISCH using alignment to 2 protein entries:     NISCH_HUMAN (see all proteins):
    DNAL1

    NISCH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NISCH (see all 956)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162097401,2
    F--52419835(+) CTCTCA/GCACCC 3 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1439156621,2
    --52419838(+) TCACAA/CCCTCC 3 -- us2k10--------
    rs1165878481,2
    F--52420020(+) GAGACA/GAATGC 3 -- us2k11Minor allele frequency- G:0.02WA 118
    rs20709141,2
    C,F,H--52420204(-) GGCCTA/GCGTGC 3 -- us2k110Minor allele frequency- G:0.07EA MN NS NA 2378
    rs583785541,2
    C,F--52420229(+) CACCAC/GTTCCC 3 -- us2k11Minor allele frequency- G:0.01EA 120
    rs1126578171,2
    C--52420315(+) TCCCTC/G/TACCGC 3 -- us2k11CSA 1
    rs2016159171,2
    --52420347(+) GCTGGC/TGGCTC 3 -- us2k10--------
    rs1121756991,2
    C,F--52420424(+) GGCCCG/AGCCCA 3 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs10350021,2
    C,F,H--52420512(+) CCCCAT/CGTCCT 3 -- us2k114Minor allele frequency- C:0.02NA WA CSA EA 378
    rs1843316961,2
    --52420707(+) CCATCC/TAACCA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for NISCH (52489134 - 52527088 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NISCH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3819CNV Insertion18451855
    dgv5137n71CNV Loss21882294
    nsv834697CNV Loss17160897
    nsv876789CNV Loss21882294
    nsv876794CNV Loss21882294

    Human Gene Mutation Database (HGMD): NISCH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NISCH
    DNA2.0 Custom Variant and Variant Library Synthesis for NISCH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615507    OMIM disorders: --

    20 diseases for NISCH:    
    About MalaCards
    rosacea    morphine dependence    drug addiction    brain disease
    congestive heart failure    essential hypertension    hypertension    sclerosing cholangitis
    cholangitis    breast cancer    pheochromocytoma    blindness
    diabetes mellitus    dilated cardiomyopathy    alzheimer's disease    bipolar disorder
    obesity    cerebritis    neuronitis    pancreatitis

    2 diseases from the University of Copenhagen DISEASES database for NISCH:
    Morphine dependence     Sclerosing cholangitis

    NISCH for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NISCH gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xerostomia 59.5 3 7496051 (1), 8807142 (1), 19041371 (1)
    hypertension arterial 45 1 2343243 (1)
    systemic hypertension 40.2 3 10874850 (1), 8852385 (1), 11728244 (1)
    withdrawal syndrome 36.1 1 8726097 (1)
    essential hypertension 31.4 1 9532644 (1)
    depressive state 27 2 8852385 (1), 11728244 (1)
    ventricular hypertrophy 23 1 9747912 (1)
    heart failure congestive 21.2 1 11728244 (1)
    major depression 13.1 3 9051774 (2), 10415944 (1)
    brain diseases 7.68 1 10415944 (1)

    Genetic Association Database (GAD): NISCH
    Human Genome Epidemiology (HuGE) Navigator: NISCH (4 documents)

    Export disorders for NISCH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NISCH gene, integrated from 10 sources (see all 195):
    (articles sorted by number of sources associating them with NISCH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Imidazoline receptor antisera-selected (IRAS) cDNA: cloning and characterization. (PubMed id 10882231)1, 2, 3, 9 Piletz J.E....Reis D.J. (DNA Cell Biol. 2000)
    2. Insulin receptor substrate 4 associates with the protein IRAS. (PubMed id 11912194)1, 2, 3 Sano H.... Lienhard G.E. (J. Biol. Chem. 2002)
    3. IRAS splice variants. (PubMed id 15028621)1, 2, 9 Piletz J.E....Ziegler D. (Ann. N. Y. Acad. Sci. 2003)
    4. Human Nischarin/imidazoline receptor antisera-selected protein is targeted to the endosomes by a combined action of a PX domain and a coiled-coil region. (PubMed id 15475348)1, 2, 9 Lim K.-P. and Hong W. (J. Biol. Chem. 2004)
    5. IRAS, the human homologue of Nischarin, prolongs survival of transfected PC12 cells. (PubMed id 12868002)1, 2, 9 Dontenwill M.... Bousquet P. (Cell Death Differ. 2003)
    6. Integrin-binding protein nischarin interacts with tumor suppressor liver kinase B1 (LKB1) to regulate cell migration of breast epithelial cells. (PubMed id 23572524)1, 2 Jain P....Alahari S.K. (J. Biol. Chem. 2013)
    7. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PubMed id 20935629)1, 4 Heid I.M....Lindgren C.M. (Nat. Genet. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. IRAS is an anti-apoptotic protein. (PubMed id 15028619)1, 2 Dontenwill M.... Bousquetd P. (Ann. N. Y. Acad. Sci. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11188 HGNC: 18006 AceView: NISCH Ensembl:ENSG00000010322 euGenes: HUgn11188
    ECgene: NISCH H-InvDB: NISCH

    (According to HUGE)
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    HUGE: KIAA0975

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NISCH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NISCH gene:
    Search GeneIP for patents involving NISCH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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