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    IQCJ-SCHIP1 IQCJ-SCHIP1 readthrough [ Homo sapiens (human) ]

    Gene ID: 100505385, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IQCJ-SCHIP1provided by HGNC
    Official Full Name
    IQCJ-SCHIP1 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:38842
    See related
    Ensembl:ENSG00000283154 AllianceGenome:HGNC:38842
    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
    Summary
    This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]
    Expression
    Broad expression in brain (RPKM 44.2), heart (RPKM 26.4) and 14 other tissues See more
    Orthologs
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    Genomic context

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    See IQCJ-SCHIP1 in Genome Data Viewer
    Location:
    3q25.32-q25.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (159069319..159897359)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161843121..162671965)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158787108..159615148)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374181 Neighboring gene MPRA-validated peak4882 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14849 Neighboring gene uncharacterized LOC124909452 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:158654234-158655433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:158708772-158709358 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158770193-158770383 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:158780440-158780973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20753 Neighboring gene IQ motif containing J Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:158946859-158947462 Neighboring gene MPRA-validated peak4886 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:159058830-159059398 Neighboring gene microRNA 3919 Neighboring gene schwannomin interacting protein 1 Neighboring gene ribosomal protein S2 pseudogene 19 Neighboring gene NANOG hESC enhancer GRCh37_chr3:159349871-159350381 Neighboring gene IQCJ-SCHIP1 readthrough antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14851 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:159481881-159482458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:159492749-159493294 Neighboring gene C9orf78 pseudogene 1 Neighboring gene uncharacterized LOC101928351 Neighboring gene uncharacterized LOC124906299 Neighboring gene Sharpr-MPRA regulatory region 8585 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:159589810-159591009 Neighboring gene RNA, U2 small nuclear 31, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20755 Neighboring gene IL12A antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:159704282-159705481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159706332-159706832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159706833-159707333 Neighboring gene long intergenic non-protein coding RNA 1100 Neighboring gene interleukin 12A

    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. IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. Kwaśnicka-Crawford DA, et al. Biochem Biophys Res Commun, 2006 Dec 1. PMID 17045569
    2. Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late component of nodes of Ranvier and axon initial segments. Martin PM, et al. J Neurosci, 2008 Jun 11. PMID 18550753, Free PMC Article
    3. CK2-regulated schwannomin-interacting protein IQCJ-SCHIP-1 association with AnkG contributes to the maintenance of the axon initial segment. Papandréou MJ, et al. J Neurochem, 2015 Aug. PMID 25950943
    4. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Lowe JK, et al. PLoS Genet, 2009 Feb. PMID 19197348, Free PMC Article
    5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axon initial segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    IQCJ-SCHIP1 readthrough transcript protein
    Names
    IQ motif containing J-schwannomin interacting protein 1 fusion protein
    IQ motif containing J-schwannomin interacting protein 1 read-through transcript

    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.

    mRNA and Protein(s)

    1. NM_001197113.2 → NP_001184042.1  IQCJ-SCHIP1 readthrough transcript protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC021654, AC092997, AK096479
      UniProtKB/Swiss-Prot
      B3KRM0, B3KU38, O75543, Q00P30, Q00P31, Q7Z3Y3, Q8IY83, Q9P0W3, Q9P0W4, Q9P0W5
      UniProtKB/TrEMBL
      B2RBH3
      Related
      ENSP00000420182.1, ENST00000485419.7
      Conserved Domains (2) summary
      pfam10148
      Location:331 → 557
      SCHIP-1; Schwannomin-interacting protein 1
      pfam15157
      Location:4 → 99
      IQCJ-SCHIP1; Fusion protein IQCJ-SCHIP1 with IQ-like motif

    2. NM_001197114.2 → NP_001184043.1  IQCJ-SCHIP1 readthrough transcript protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC021654, AC092997, DQ157847
      UniProtKB/TrEMBL
      B2RBH3
      Related
      ENSP00000418692.1, ENST00000476809.7
      Conserved Domains (2) summary
      pfam10148
      Location:304 → 530
      SCHIP-1; Schwannomin-interacting protein 1
      pfam15157
      Location:4 → 70
      IQCJ-SCHIP1; Fusion protein IQCJ-SCHIP1 with IQ-like motif

    3. NM_001414413.1 → NP_001401342.1  IQCJ-SCHIP1 readthrough transcript protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC021654, AC092997, AC107312

    4. NM_001414414.1 → NP_001401343.1  IQCJ-SCHIP1 readthrough transcript protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC021654, AC092997, AC107312

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      159069319..159897359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      161843121..162671965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B3KU38.2 GenPept UniProtKB/Swiss-Prot:B3KU38

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