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NISCH nischarin [ Homo sapiens (human) ]

Gene ID: 11188, updated on 8-Jul-2021

Summary

Official Symbol
NISCHprovided by HGNC
Official Full Name
nischarinprovided by HGNC
Primary source
HGNC:HGNC:18006
See related
Ensembl:ENSG00000010322 MIM:615507
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
I-1; IR1; IRAS; hIRAS
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 30.5), prostate (RPKM 22.8) and 25 other tissues See more
Orthologs
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Genomic context

See NISCH in Genome Data Viewer
Location:
3p21.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52455603..52493068)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52489620..52527084)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene semaphorin 3G Neighboring gene uncharacterized LOC105377091 Neighboring gene troponin C1, slow skeletal and cardiac type Neighboring gene stabilin 1 Neighboring gene 5'-nucleotidase domain containing 2 Neighboring gene small integral membrane protein 4

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
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14425, FLJ40413, FLJ90519, KIAA0975

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables integrin binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in Rac protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in norepinephrine secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic transmission, GABAergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in recycling endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nischarin
Names
I-1 receptor candidate protein
I1R candidate protein
imidazoline receptor 1
imidazoline receptor antisera selected

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_033112.1 RefSeqGene

    Range
    5001..42565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276293.2NP_001263222.2  nischarin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has its transcription extend past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 (also known as IRAS-L) which is shorter and has a distinct C-terminus, compared to isoform 1. This isoform lacks multiple domains which are believed to be required by functional imidazoline receptors.
    Source sequence(s)
    AC006208
    Consensus CDS
    CCDS63652.1
    Related
    ENSP00000417812.1, ENST00000488380.5
    Conserved Domains (3) summary
    cd06875
    Location:14129
    PX_IRAS; The phosphoinositide binding Phox Homology domain of the Imidazoline Receptor Antisera-Selected
    COG4886
    Location:289418
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:289311
    LRR_RI; leucine-rich repeat [structural motif]
  2. NM_001276294.2NP_001263223.2  nischarin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 (also known as IRAS-S) which is shorter and has a distinct C-terminus, compared to isoform 1. This isoform lacks multiple domains which are believed to be required by functional imidazoline receptors.
    Source sequence(s)
    AC006208
    Consensus CDS
    CCDS63651.1
    Related
    ENSP00000392484.2, ENST00000420808.2
    Conserved Domains (3) summary
    cd06875
    Location:14129
    PX_IRAS; The phosphoinositide binding Phox Homology domain of the Imidazoline Receptor Antisera-Selected
    COG4886
    Location:289418
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:289311
    LRR_RI; leucine-rich repeat [structural motif]
  3. NM_007184.4NP_009115.3  nischarin isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1; also known as IRAS-M).
    Source sequence(s)
    AC006208
    Consensus CDS
    CCDS33767.1
    Related
    ENSP00000339958.4, ENST00000345716.9
    Conserved Domains (3) summary
    cd06875
    Location:14129
    PX_IRAS; The phosphoinositide binding Phox Homology domain of the Imidazoline Receptor Antisera-Selected
    COG4886
    Location:289418
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:289311
    LRR_RI; leucine-rich repeat [structural motif]

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52455603..52493068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264839.3XP_005264896.1  nischarin isoform X1

  2. XM_017005643.2XP_016861132.1  nischarin isoform X1

  3. XM_006712955.3XP_006713018.1  nischarin isoform X2

RNA

  1. XR_001739989.1 RNA Sequence

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