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    IQCJ IQ motif containing J [ Homo sapiens (human) ]

    Gene ID: 654502, updated on 17-Sep-2024

    Summary

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    Official Symbol
    IQCJprovided by HGNC
    Official Full Name
    IQ motif containing Jprovided by HGNC
    Primary source
    HGNC:HGNC:32406
    See related
    Ensembl:ENSG00000214216 MIM:611622; AllianceGenome:HGNC:32406
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See IQCJ in Genome Data Viewer
    Location:
    3q25.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (159069319..159266307)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161843121..162040655)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158787108..158984096)

    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 IQCJ-SCHIP1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20753 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

    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 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. Plasma Triglyceride Levels May Be Modulated by Gene Expression of IQCJ, NXPH1, PHF17 and MYB in Humans. Vallée Marcotte B, et al. Int J Mol Sci, 2017 Jan 26. PMID 28134766, Free PMC Article
    2. Novel Genetic Loci Associated with the Plasma Triglyceride Response to an Omega-3 Fatty Acid Supplementation. Vallée Marcotte B, et al. J Nutrigenet Nutrigenomics, 2016. PMID 27160456
    3. 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
    4. 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
    5. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article

    See all (9) 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

    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

    Readthrough IQCJ-SCHIP1

    Readthrough gene: IQCJ-SCHIP1, Included gene: SCHIP1

    Homology

    General protein information

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    Preferred Names
    IQ domain-containing protein J
    Names
    calmodulin binding protein

    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_001042705.3 → NP_001036170.1  IQ domain-containing protein J isoform CaMBPv1

      See identical proteins and their annotated locations for NP_001036170.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (CaMBPv1).
      Source sequence(s)
      AK309049, DA305468, DQ309553
      Consensus CDS
      CCDS46946.1
      UniProtKB/Swiss-Prot
      B7ZMM2, B9EH97, Q1A5X5, Q1A5X6
      Related
      ENSP00000402153.1, ENST00000451172.5
      Conserved Domains (1) summary
      pfam15157
      Location:4 → 155
      IQCJ-SCHIP1; Fusion protein IQCJ-SCHIP1 with IQ-like motif

    2. NM_001042706.3 → NP_001036171.1  IQ domain-containing protein J isoform CaMBPv2

      See identical proteins and their annotated locations for NP_001036171.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' exon and thereby differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (CaMBPv2) has a distinct and shorter C-terminus, compared to isoform CaMBPv1.
      Source sequence(s)
      DA305468, DQ309554
      Consensus CDS
      CCDS46947.1
      UniProtKB/Swiss-Prot
      Q1A5X6
      Related
      ENSP00000380932.2, ENST00000397832.7
      Conserved Domains (1) summary
      pfam15157
      Location:4 → 112
      IQCJ-SCHIP1; Fusion protein IQCJ-SCHIP1 with IQ-like motif

    3. NM_001197100.2 → NP_001184029.1  IQ domain-containing protein J isoform CaMBPv3

      See identical proteins and their annotated locations for NP_001184029.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (CaMBPv3) that is shorter than isoform CaMBPv1.
      Source sequence(s)
      AK309049, DA305468
      Consensus CDS
      CCDS56290.1
      UniProtKB/Swiss-Prot
      Q1A5X6
      Related
      ENSP00000418141.1, ENST00000482126.1
      Conserved Domains (1) summary
      pfam15157
      Location:4 → 128
      IQCJ-SCHIP1; Fusion protein IQCJ-SCHIP1 with IQ-like motif

    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..159266307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      161843121..162040655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1A5X6.1 GenPept UniProtKB/Swiss-Prot:Q1A5X6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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