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

Gene ID: 100505385, updated on 23-Nov-2021

Summary

Official Symbol
IQCJ-SCHIP1provided by HGNC
Official Full Name
IQCJ-SCHIP1 readthroughprovided by HGNC
Primary source
HGNC:HGNC:38842
See related
Ensembl:ENSG00000283154
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

See IQCJ-SCHIP1 in Genome Data Viewer
Location:
3q25.32-q25.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (159069319..159897359)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158787108..159615148)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7446 Neighboring gene uncharacterized LOC105374181 Neighboring gene IQ motif containing J Neighboring gene microRNA 3919 Neighboring gene schwannomin interacting protein 1 Neighboring gene ribosomal protein S2 pseudogene 19 Neighboring gene IQCJ-SCHIP1 readthrough antisense RNA 1 Neighboring gene chromosome 9 open reading frame 78 pseudogene Neighboring gene Sharpr-MPRA regulatory region 6431 Neighboring gene uncharacterized LOC101928351 Neighboring gene Sharpr-MPRA regulatory region 8585 Neighboring gene RNA, U2 small nuclear 31, pseudogene Neighboring gene IL12A antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 1100 Neighboring gene interleukin 12A

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001197113.2NP_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
    Consensus CDS
    CCDS56289.1
    UniProtKB/Swiss-Prot
    B3KU38
    Related
    ENSP00000420182.1, ENST00000485419.7
    Conserved Domains (2) summary
    pfam10148
    Location:331557
    SCHIP-1; Schwannomin-interacting protein 1
    pfam15157
    Location:499
    IQCJ-SCHIP1; Fusion protein IQCJ-SCHIP1 with IQ-like motif
  2. NM_001197114.2NP_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
    Consensus CDS
    CCDS56291.1
    UniProtKB/Swiss-Prot
    B3KU38
    Related
    ENSP00000418692.1, ENST00000476809.7
    Conserved Domains (2) summary
    pfam10148
    Location:304530
    SCHIP-1; Schwannomin-interacting protein 1
    pfam15157
    Location:470
    IQCJ-SCHIP1; Fusion protein IQCJ-SCHIP1 with IQ-like motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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