U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    NISCH nischarin [ Homo sapiens (human) ]

    Gene ID: 11188, updated on 17-Jun-2024

    Summary

    Official Symbol
    NISCHprovided by HGNC
    Official Full Name
    nischarinprovided by HGNC
    Primary source
    HGNC:HGNC:18006
    See related
    Ensembl:ENSG00000010322 MIM:615507; AllianceGenome:HGNC:18006
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NISCH in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52455604..52493068)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52488505..52525966)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52489620..52527084)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52471583-52472088 Neighboring gene semaphorin 3G Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52478216-52479092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52479093-52479969 Neighboring gene Sharpr-MPRA regulatory region 2927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52486099-52486919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52490599-52491274 Neighboring gene troponin C1, slow skeletal and cardiac type Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52505250-52505750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52538009-52538514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52538515-52539020 Neighboring gene stabilin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52540387-52540986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52540987-52541588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52553072-52553680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52553681-52554287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14445 Neighboring gene 5'-nucleotidase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14448 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52570940-52571473 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 5

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14425, FLJ40413, FLJ90519, KIAA0975

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 
    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 negative regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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)

    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.

    Genomic

    1. NG_033112.2 RefSeqGene

      Range
      5002..42466
      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
      UniProtKB/TrEMBL
      C9J715
      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
      UniProtKB/Swiss-Prot
      C9J245, Q6PGP3, Q6PIB4, Q7L8M3, Q7Z2X6, Q9UES6, Q9UEU4, Q9UFW3, Q9Y2I1
      UniProtKB/TrEMBL
      B3KNF9
      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: 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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52455604..52493068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447373.1XP_047303329.1  nischarin isoform X1

    2. XM_006712955.4XP_006713018.1  nischarin isoform X2

      UniProtKB/TrEMBL
      B4DYH7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52488505..52525966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345091.1XP_054201066.1  nischarin isoform X1

    2. XM_054345092.1XP_054201067.1  nischarin isoform X2

      UniProtKB/TrEMBL
      B4DYH7