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Aliases for IQCJ-SCHIP1 Gene

Aliases for IQCJ-SCHIP1 Gene

  • IQCJ-SCHIP1 Readthrough 2 3 5
  • IQ Motif Containing J-Schwannomin Interacting Protein 1 Read-Through Transcript 3
  • IQ Motif Containing J-Schwannomin Interacting Protein 1 Fusion Protein 3
  • IQCJ-SCHIP1 Readthrough Transcript Protein 3

External Ids for IQCJ-SCHIP1 Gene

Previous GeneCards Identifiers for IQCJ-SCHIP1 Gene

  • GC03U901706
  • GC03P158681
  • GC03P159069

Summaries for IQCJ-SCHIP1 Gene

Entrez Gene Summary for IQCJ-SCHIP1 Gene

  • 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]

GeneCards Summary for IQCJ-SCHIP1 Gene

IQCJ-SCHIP1 (IQCJ-SCHIP1 Readthrough) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is SCHIP1.

UniProtKB/Swiss-Prot for IQCJ-SCHIP1 Gene

  • May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments (PubMed:25950943). May also play a role in axon outgrowth and guidance (By similarity).

Additional gene information for IQCJ-SCHIP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQCJ-SCHIP1 Gene

Genomics for IQCJ-SCHIP1 Gene

GeneHancer (GH) Regulatory Elements for IQCJ-SCHIP1 Gene

Promoters and enhancers for IQCJ-SCHIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J159761 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650 +802.0 801966 6 HDGF SIN3A FEZF1 ZNF2 YY1 ZNF213 FOS DEK SP3 SP5 SCHIP1 IQCJ-SCHIP1 IQCJ-SCHIP1-AS1 LOC100420738
GH03J159273 Promoter 0.9 EPDnew 650.1 +311.0 311048 0.1 ZBTB21 ATF2 ZNF366 ZNF629 ATF7 RCOR1 ZBTB17 CHD2 SCHIP1 IQCJ-SCHIP1 RNU2-31P MIR3919
GH03J158961 Enhancer 0.4 ENCODE 650.7 -0.4 -397 1 USF1 MAX IQCJ IQCJ-SCHIP1 GC03M158916
GH03J159783 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.8 +824.6 824647 7.5 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 FOS DEK JUNB RNU2-31P IQCJ-SCHIP1 IQCJ-SCHIP1-AS1 SCHIP1
GH03J159774 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +813.8 813840 2.6 KLF17 SIN3A FEZF1 ZNF335 GLIS2 ZNF366 SCRT2 EGR2 USF2 ZEB2 RNU2-31P IQCJ-SCHIP1 IQCJ-SCHIP1-AS1 SCHIP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IQCJ-SCHIP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IQCJ-SCHIP1 Gene

Genomic Locations for IQCJ-SCHIP1 Gene
chr3:158,962,235-159,897,366
(GRCh38/hg38)
Size:
935,132 bases
Orientation:
Plus strand
chr3:158,680,024-159,615,155
(GRCh37/hg19)
Size:
935,132 bases
Orientation:
Plus strand

Genomic View for IQCJ-SCHIP1 Gene

Genes around IQCJ-SCHIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQCJ-SCHIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IQCJ-SCHIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IQCJ-SCHIP1 Gene

Proteins for IQCJ-SCHIP1 Gene

  • Protein details for IQCJ-SCHIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B3KU38-IQIP1_HUMAN
    Recommended name:
    IQCJ-SCHIP1 readthrough transcript protein
    Protein Accession:
    B3KU38
    Secondary Accessions:
    • B3KRM0
    • O75543
    • Q00P30
    • Q00P31
    • Q7Z3Y3
    • Q8IY83
    • Q9P0W3
    • Q9P0W4
    • Q9P0W5

    Protein attributes for IQCJ-SCHIP1 Gene

    Size:
    563 amino acids
    Molecular mass:
    62248 Da
    Quaternary structure:
    • Homooligomer (via coiled coil domain). Interacts (via IQ domain) with calmodulin; the interaction is direct and lost in presence of calcium (By similarity). Interacts with ANK3 (via ANK repeats); required for localization at axon initial segments (AIS) and nodes of Ranvier (PubMed:25950943). Interacts with SPTBN4. Interacts with KCNQ2 and KCNQ3 (By similarity).

    Alternative splice isoforms for IQCJ-SCHIP1 Gene

neXtProt entry for IQCJ-SCHIP1 Gene

Post-translational modifications for IQCJ-SCHIP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for IQCJ-SCHIP1 Gene

Domains & Families for IQCJ-SCHIP1 Gene

Gene Families for IQCJ-SCHIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IQCJ-SCHIP1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IQCJ-SCHIP1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for IQCJ-SCHIP1 Gene

Function for IQCJ-SCHIP1 Gene

Molecular function for IQCJ-SCHIP1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments (PubMed:25950943). May also play a role in axon outgrowth and guidance (By similarity).

Phenotypes From GWAS Catalog for IQCJ-SCHIP1 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQCJ-SCHIP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IQCJ-SCHIP1 Gene

Localization for IQCJ-SCHIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IQCJ-SCHIP1 Gene

Cell projection, axon. Cytoplasm. Note=Localizes to the axon initial segments (AIS) and nodes of Ranvier of neurons and is absent from dendrites. {ECO:0000250 UniProtKB:A0A088MLT8}.

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IQCJ-SCHIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030424 axon IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with IQCJ-SCHIP1: view

No data available for Subcellular locations from COMPARTMENTS for IQCJ-SCHIP1 Gene

Pathways & Interactions for IQCJ-SCHIP1 Gene

SuperPathways for IQCJ-SCHIP1 Gene

No Data Available

Interacting Proteins for IQCJ-SCHIP1 Gene

Gene Ontology (GO) - Biological Process for IQCJ-SCHIP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for IQCJ-SCHIP1 Gene

Drugs & Compounds for IQCJ-SCHIP1 Gene

No Compound Related Data Available

Transcripts for IQCJ-SCHIP1 Gene

mRNA/cDNA for IQCJ-SCHIP1 Gene

(2) REFSEQ mRNAs :
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQCJ-SCHIP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IQCJ-SCHIP1 Gene

No ASD Table

Relevant External Links for IQCJ-SCHIP1 Gene

GeneLoc Exon Structure for
IQCJ-SCHIP1
ECgene alternative splicing isoforms for
IQCJ-SCHIP1

Expression for IQCJ-SCHIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IQCJ-SCHIP1 Gene

mRNA differential expression in normal tissues according to GTEx for IQCJ-SCHIP1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.3).

mRNA Expression by UniProt/SwissProt for IQCJ-SCHIP1 Gene:

B3KU38-IQIP1_HUMAN
Tissue specificity: Highly expressed in brain and to a lower extent in heart and kidney.
genes like me logo Genes that share expression patterns with IQCJ-SCHIP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IQCJ-SCHIP1 Gene

Orthologs for IQCJ-SCHIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IQCJ-SCHIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCHIP1 33
  • 98.73 (n)
dog
(Canis familiaris)
Mammalia SCHIP1 33
  • 91.77 (n)
rat
(Rattus norvegicus)
Mammalia Schip1 33
  • 89.94 (n)
mouse
(Mus musculus)
Mammalia Gm21949 33
  • 89.39 (n)
Iqschfp 16
chicken
(Gallus gallus)
Aves SCHIP1 33
  • 74.79 (n)
zebrafish
(Danio rerio)
Actinopterygii schip1 33
  • 78.62 (n)
Species where no ortholog for IQCJ-SCHIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IQCJ-SCHIP1 Gene

ENSEMBL:
Gene Tree for IQCJ-SCHIP1 (if available)
TreeFam:
Gene Tree for IQCJ-SCHIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IQCJ-SCHIP1: view image

Paralogs for IQCJ-SCHIP1 Gene

Paralogs for IQCJ-SCHIP1 Gene

(2) SIMAP similar genes for IQCJ-SCHIP1 Gene using alignment to 8 proteins:

  • C9J366_HUMAN
  • C9J615_HUMAN
  • C9J630_HUMAN
  • C9JMW4_HUMAN
  • C9JVF1_HUMAN
  • C9JXR1_HUMAN
  • C9K0A8_HUMAN
  • H7C4Z1_HUMAN
genes like me logo Genes that share paralogs with IQCJ-SCHIP1: view

Variants for IQCJ-SCHIP1 Gene

Sequence variations from dbSNP and Humsavar for IQCJ-SCHIP1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000002930 -- 159,449,555(+) G/A intron_variant
rs1000006167 -- 159,111,352(+) C/G intron_variant
rs1000006557 -- 159,175,792(+) T/C intron_variant
rs1000007942 -- 159,140,493(+) T/C intron_variant
rs1000010671 -- 159,435,969(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IQCJ-SCHIP1 Gene

Variant ID Type Subtype PubMed ID
dgv2626n106 CNV deletion 24896259
dgv2830e59 CNV tandem duplication 20981092
dgv834n67 CNV loss 20364138
esv1616680 CNV deletion 17803354
esv1917039 CNV deletion 18987734
esv2138340 CNV deletion 18987734
esv22799 CNV gain 19812545
esv23556 CNV loss 19812545
esv23950 CNV loss 19812545
esv24169 CNV loss 19812545
esv2421756 CNV deletion 20811451
esv24925 CNV loss 19812545
esv2516721 CNV insertion 19546169
esv2560522 CNV deletion 19546169
esv2644833 CNV deletion 19546169
esv2656480 CNV deletion 23128226
esv2657975 CNV deletion 23128226
esv2659056 CNV deletion 23128226
esv2664613 CNV deletion 23128226
esv2669077 CNV deletion 23128226
esv2674821 CNV deletion 23128226
esv2678454 CNV deletion 23128226
esv2726104 CNV deletion 23290073
esv2726105 CNV deletion 23290073
esv2726107 CNV deletion 23290073
esv2726108 CNV deletion 23290073
esv2762352 CNV gain 21179565
esv2832681 CNV deletion 24192839
esv3302886 CNV tandem duplication 20981092
esv3439768 CNV duplication 20981092
esv3562788 CNV deletion 23714750
esv3562790 CNV deletion 23714750
esv3562794 CNV deletion 23714750
esv3562796 CNV deletion 23714750
esv3569077 CNV loss 25503493
esv3584505 CNV gain 24956385
esv3598351 CNV loss 21293372
esv3598352 CNV loss 21293372
esv3598354 CNV loss 21293372
esv3598355 CNV gain 21293372
esv3598356 CNV loss 21293372
esv3598357 CNV loss 21293372
esv3598360 CNV loss 21293372
esv3598362 CNV loss 21293372
esv3598364 CNV loss 21293372
esv3598365 CNV loss 21293372
esv3598366 CNV loss 21293372
esv3598367 CNV loss 21293372
esv3598371 CNV loss 21293372
esv3598372 CNV loss 21293372
esv3598373 CNV loss 21293372
esv3893792 CNV loss 25118596
esv4370 CNV loss 18987735
esv5498 CNV gain 19470904
esv5527 OTHER inversion 19470904
esv9632 CNV gain 19470904
esv992343 CNV deletion 20482838
esv993836 CNV deletion 20482838
nsv1004124 CNV gain 25217958
nsv1004990 CNV gain 25217958
nsv1010336 CNV loss 25217958
nsv1010828 CNV gain 25217958
nsv1074105 CNV deletion 25765185
nsv1110953 OTHER inversion 24896259
nsv1114442 CNV deletion 24896259
nsv1117355 CNV tandem duplication 24896259
nsv1128001 CNV deletion 24896259
nsv1141979 OTHER inversion 24896259
nsv1142375 CNV tandem duplication 24896259
nsv1153194 CNV insertion 26484159
nsv4082 CNV insertion 18451855
nsv4083 CNV insertion 18451855
nsv4084 CNV deletion 18451855
nsv4085 CNV insertion 18451855
nsv4086 CNV deletion 18451855
nsv4087 CNV insertion 18451855
nsv437890 CNV loss 16468122
nsv470971 CNV gain 18288195
nsv474854 CNV novel sequence insertion 20440878
nsv474858 CNV novel sequence insertion 20440878
nsv475193 CNV novel sequence insertion 20440878
nsv478315 CNV novel sequence insertion 20440878
nsv511197 CNV loss 21212237
nsv513091 CNV loss 21212237
nsv519199 CNV loss 19592680
nsv522248 CNV loss 19592680
nsv592125 CNV loss 21841781
nsv592126 CNV loss 21841781
nsv592127 CNV loss 21841781
nsv818181 CNV loss 17921354
nsv820265 CNV gain 19587683
nsv821438 CNV deletion 20802225
nsv829769 CNV gain 17160897
nsv955578 CNV deletion 24416366
nsv979894 CNV duplication 23825009
nsv997776 CNV gain 25217958
nsv998949 CNV gain 25217958

Variation tolerance for IQCJ-SCHIP1 Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IQCJ-SCHIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IQCJ-SCHIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQCJ-SCHIP1 Gene

Disorders for IQCJ-SCHIP1 Gene

Additional Disease Information for IQCJ-SCHIP1

No disorders were found for IQCJ-SCHIP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IQCJ-SCHIP1 Gene

Publications for IQCJ-SCHIP1 Gene

  1. IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. (PMID: 17045569) Kwaśnicka-Crawford DA … Scherer SW (Biochemical and biophysical research communications 2006) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. CK2-regulated schwannomin-interacting protein IQCJ-SCHIP-1 association with AnkG contributes to the maintenance of the axon initial segment. (PMID: 25950943) Papandréou MJ … Dargent B (Journal of neurochemistry 2015) 4 58
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58

Products for IQCJ-SCHIP1 Gene

Sources for IQCJ-SCHIP1 Gene

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