Human Gene NISCH (ENST00000345716.9_6) from GENCODE V47lift37
  Description: nischarin, transcript variant 1 (from RefSeq NM_007184.4)
Gencode Transcript: ENST00000345716.9_6
Gencode Gene: ENSG00000010322.16_10
Transcript (Including UTRs)
   Position: hg19 chr3:52,489,620-52,527,084 Size: 37,465 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr3:52,489,658-52,526,498 Size: 36,841 Coding Exon Count: 21 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:52,489,620-52,527,084)mRNA (may differ from genome)Protein (1504 aa)
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-  Comments and Description Text from UniProtKB
  ID: NISCH_HUMAN
DESCRIPTION: RecName: Full=Nischarin; AltName: Full=Imidazoline receptor 1; Short=I-1; Short=IR1; AltName: Full=Imidazoline receptor antisera-selected protein; Short=hIRAS; AltName: Full=Imidazoline-1 receptor; Short=I1R; AltName: Full=Imidazoline-1 receptor candidate protein; Short=I-1 receptor candidate protein; Short=I1R candidate protein;
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.
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).
SUBCELLULAR LOCATION: 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).
TISSUE SPECIFICITY: Isoform 1, isoform 3 and isoform 4 are expressed in brain. Isoform 1 is expressed in endocrine tissues.
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.
SEQUENCE CAUTION: Sequence=BAA76819.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NISCH
Diseases sorted by gene-association score: aplasia of lacrimal and salivary glands (13), silent myocardial infarction (8), withdrawal disorder (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 147.65 RPKM in Brain - Cerebellum
Total median expression: 1883.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.0038-0.474 Picture PostScript Text
3' UTR -196.40586-0.335 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001611 - Leu-rich_rpt
IPR001683 - Phox

Pfam Domains:
PF00787 - PX domain

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
53032 - tRNA-intron endonuclease catalytic domain-like
64268 - PX domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3P0C - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y2I1
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0035091 phosphatidylinositol binding
GO:0042802 identical protein binding

Biological Process:
GO:0006006 glucose metabolic process
GO:0006915 apoptotic process
GO:0008217 regulation of blood pressure
GO:0016601 Rac protein signal transduction
GO:0030036 actin cytoskeleton organization
GO:0030336 negative regulation of cell migration
GO:0032228 regulation of synaptic transmission, GABAergic
GO:0048243 norepinephrine secretion

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  LF209992 - JP 2014500723-A/17495: Polycomb-Associated Non-Coding RNAs.
AB023192 - Homo sapiens KIAA0975 mRNA for KIAA0975 protein.
AK315001 - Homo sapiens cDNA, FLJ95928.
AK297657 - Homo sapiens cDNA FLJ58268 complete cds, highly similar to Homo sapiens nischarin (NISCH), mRNA.
BC038102 - Homo sapiens nischarin, mRNA (cDNA clone MGC:33070 IMAGE:5268247), complete cds.
AK291398 - Homo sapiens cDNA FLJ78306 complete cds, highly similar to Homo sapiens nischarin (NISCH), mRNA.
BC054494 - Homo sapiens nischarin, mRNA (cDNA clone MGC:54210 IMAGE:6195532), complete cds.
AF082516 - Homo sapiens I-1 receptor candidate protein mRNA, complete cds.
BC050552 - Homo sapiens nischarin, mRNA (cDNA clone IMAGE:5761683), partial cds.
AK027428 - Homo sapiens cDNA FLJ14522 fis, clone NT2RM1000883, highly similar to Homo sapiens nischarin (NISCH), mRNA.
BC056900 - Homo sapiens nischarin, mRNA (cDNA clone MGC:65065 IMAGE:6143316), complete cds.
AB384069 - Synthetic construct DNA, clone: pF1KSDA0975, Homo sapiens NISCH gene for nischarin, complete cds, without stop codon, in Flexi system.
KJ898374 - Synthetic construct Homo sapiens clone ccsbBroadEn_07768 NISCH gene, encodes complete protein.
AK001505 - Homo sapiens cDNA FLJ10643 fis, clone NT2RP2005753, highly similar to Homo sapiens I-1 receptor candidate protein mRNA.
LF333756 - JP 2014500723-A/141259: Polycomb-Associated Non-Coding RNAs.
DL491447 - Novel nucleic acids.
DL490065 - Novel nucleic acids.
AK302441 - Homo sapiens cDNA FLJ58306 complete cds, highly similar to Homo sapiens nischarin (NISCH), mRNA.
LF333755 - JP 2014500723-A/141258: Polycomb-Associated Non-Coding RNAs.
LF333754 - JP 2014500723-A/141257: Polycomb-Associated Non-Coding RNAs.
LF333753 - JP 2014500723-A/141256: Polycomb-Associated Non-Coding RNAs.
LF333752 - JP 2014500723-A/141255: Polycomb-Associated Non-Coding RNAs.
LF333749 - JP 2014500723-A/141252: Polycomb-Associated Non-Coding RNAs.
AF058290 - Homo sapiens imidazoline receptor antisera-selected protein mRNA, partial cds.
LF333748 - JP 2014500723-A/141251: Polycomb-Associated Non-Coding RNAs.
AL117432 - Homo sapiens mRNA; cDNA DKFZp434E066 (from clone DKFZp434E066); partial cds.
LF333743 - JP 2014500723-A/141246: Polycomb-Associated Non-Coding RNAs.
LF333741 - JP 2014500723-A/141244: Polycomb-Associated Non-Coding RNAs.
LF333740 - JP 2014500723-A/141243: Polycomb-Associated Non-Coding RNAs.
LF333739 - JP 2014500723-A/141242: Polycomb-Associated Non-Coding RNAs.
LF333738 - JP 2014500723-A/141241: Polycomb-Associated Non-Coding RNAs.
LF333737 - JP 2014500723-A/141240: Polycomb-Associated Non-Coding RNAs.
AK027331 - Homo sapiens cDNA FLJ14425 fis, clone HEMBA1005990, highly similar to Homo sapiens nischarin (NISCH), mRNA.
DQ576136 - Homo sapiens piRNA piR-44248, complete sequence.
AK075000 - Homo sapiens cDNA FLJ90519 fis, clone NT2RP3004625.
LF333736 - JP 2014500723-A/141239: Polycomb-Associated Non-Coding RNAs.
LF333735 - JP 2014500723-A/141238: Polycomb-Associated Non-Coding RNAs.
LF333734 - JP 2014500723-A/141237: Polycomb-Associated Non-Coding RNAs.
AK097732 - Homo sapiens cDNA FLJ40413 fis, clone TESTI2038048, highly similar to Homo sapiens I-1 receptor candidate protein mRNA.
LF333732 - JP 2014500723-A/141235: Polycomb-Associated Non-Coding RNAs.
LF333731 - JP 2014500723-A/141234: Polycomb-Associated Non-Coding RNAs.
LF333730 - JP 2014500723-A/141233: Polycomb-Associated Non-Coding RNAs.
LF333729 - JP 2014500723-A/141232: Polycomb-Associated Non-Coding RNAs.
LF333728 - JP 2014500723-A/141231: Polycomb-Associated Non-Coding RNAs.
JD189149 - Sequence 170173 from Patent EP1572962.
JD098252 - Sequence 79276 from Patent EP1572962.
JD227952 - Sequence 208976 from Patent EP1572962.
JD420527 - Sequence 401551 from Patent EP1572962.
JD303062 - Sequence 284086 from Patent EP1572962.
LF333727 - JP 2014500723-A/141230: Polycomb-Associated Non-Coding RNAs.
AL137405 - Homo sapiens mRNA; cDNA DKFZp434M122 (from clone DKFZp434M122).
DQ576245 - Homo sapiens piRNA piR-44357, complete sequence.
LF333726 - JP 2014500723-A/141229: Polycomb-Associated Non-Coding RNAs.
JD549271 - Sequence 530295 from Patent EP1572962.
JD374292 - Sequence 355316 from Patent EP1572962.
JD298971 - Sequence 279995 from Patent EP1572962.
JD273324 - Sequence 254348 from Patent EP1572962.
JD562026 - Sequence 543050 from Patent EP1572962.
JD108909 - Sequence 89933 from Patent EP1572962.
JD077088 - Sequence 58112 from Patent EP1572962.
JD158054 - Sequence 139078 from Patent EP1572962.
MA445569 - JP 2018138019-A/17495: Polycomb-Associated Non-Coding RNAs.
MA569333 - JP 2018138019-A/141259: Polycomb-Associated Non-Coding RNAs.
MA569332 - JP 2018138019-A/141258: Polycomb-Associated Non-Coding RNAs.
MA569331 - JP 2018138019-A/141257: Polycomb-Associated Non-Coding RNAs.
MA569330 - JP 2018138019-A/141256: Polycomb-Associated Non-Coding RNAs.
MA569329 - JP 2018138019-A/141255: Polycomb-Associated Non-Coding RNAs.
MA569326 - JP 2018138019-A/141252: Polycomb-Associated Non-Coding RNAs.
MA569325 - JP 2018138019-A/141251: Polycomb-Associated Non-Coding RNAs.
MA569320 - JP 2018138019-A/141246: Polycomb-Associated Non-Coding RNAs.
MA569318 - JP 2018138019-A/141244: Polycomb-Associated Non-Coding RNAs.
MA569317 - JP 2018138019-A/141243: Polycomb-Associated Non-Coding RNAs.
MA569316 - JP 2018138019-A/141242: Polycomb-Associated Non-Coding RNAs.
MA569315 - JP 2018138019-A/141241: Polycomb-Associated Non-Coding RNAs.
MA569314 - JP 2018138019-A/141240: Polycomb-Associated Non-Coding RNAs.
MA569313 - JP 2018138019-A/141239: Polycomb-Associated Non-Coding RNAs.
MA569312 - JP 2018138019-A/141238: Polycomb-Associated Non-Coding RNAs.
MA569311 - JP 2018138019-A/141237: Polycomb-Associated Non-Coding RNAs.
MA569309 - JP 2018138019-A/141235: Polycomb-Associated Non-Coding RNAs.
MA569308 - JP 2018138019-A/141234: Polycomb-Associated Non-Coding RNAs.
MA569307 - JP 2018138019-A/141233: Polycomb-Associated Non-Coding RNAs.
MA569306 - JP 2018138019-A/141232: Polycomb-Associated Non-Coding RNAs.
MA569305 - JP 2018138019-A/141231: Polycomb-Associated Non-Coding RNAs.
MA569304 - JP 2018138019-A/141230: Polycomb-Associated Non-Coding RNAs.
MA569303 - JP 2018138019-A/141229: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C9J245, ENST00000345716.1, ENST00000345716.2, ENST00000345716.3, ENST00000345716.4, ENST00000345716.5, ENST00000345716.6, ENST00000345716.7, ENST00000345716.8, IRAS, KIAA0975, NISCH_HUMAN, NM_007184, Q6PGP3, Q6PIB4, Q7L8M3, Q7Z2X6, Q9UES6, Q9UEU4, Q9UFW3, Q9Y2I1, uc317xgj.1, uc317xgj.2
UCSC ID: ENST00000345716.9_6
RefSeq Accession: NM_007184.4
Protein: Q9Y2I1 (aka NISCH_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.