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

Gene ID: 100505385, updated on 3-Apr-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
all
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Genomic context

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Location:
3q25.32-q25.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (159069319..159897359)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161843121..162671965)
105.20220307 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)

Genotypes

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_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
    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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