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Aliases for ITPRIP Gene

Aliases for ITPRIP Gene

  • Inositol 1,4,5-Trisphosphate Receptor Interacting Protein 2 3 5
  • KIAA1754 2 3 4
  • DANGER 3 4
  • Inositol 1,4,5-Trisphosphate Receptor-Interacting Protein 3
  • Inositol 1,4,5-Triphosphate Receptor Interacting Protein 2
  • Inositol 1,4,5-Triphosphate Receptor-Interacting Protein 3
  • Protein DANGER 4
  • BA127L20.2 3
  • BA127L20 3

External Ids for ITPRIP Gene

Previous HGNC Symbols for ITPRIP Gene

  • KIAA1754

Previous GeneCards Identifiers for ITPRIP Gene

  • GC10M106062
  • GC10M099703

Summaries for ITPRIP Gene

Entrez Gene Summary for ITPRIP Gene

  • This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for ITPRIP Gene

ITPRIP (Inositol 1,4,5-Trisphosphate Receptor Interacting Protein) is a Protein Coding gene. An important paralog of this gene is ITPRIPL1.

UniProtKB/Swiss-Prot for ITPRIP Gene

  • Enhances Ca(2+)-mediated inhibition of inositol 1,4,5-triphosphate receptor (ITPR) Ca(2+) release.

Additional gene information for ITPRIP Gene

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

Genomics for ITPRIP Gene

GeneHancer (GH) Regulatory Elements for ITPRIP Gene

Promoters and enhancers for ITPRIP 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
GH10I104316 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 578.9 +9.7 9722 24.8 FEZF1 YY1 ZNF213 ZNF143 ZNF548 SP3 MEF2D ZNF610 GLIS1 NBN ITPRIP GSTO2 PDCD11 CFAP58 SFR1 CFAP58-AS1 PCGF6 TAF5 ENSG00000260461 GSTO1
GH10I104348 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27 -13.0 -12994 5.5 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 IRF4 YY1 ZNF207 CFAP58 ITPRIP PDCD11 ENSG00000260461 SFR1 GSTO1 SLK CFAP58-AS1
GH10I104345 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 23.8 -7.5 -7455 0.8 ATF4 ZNF189 IKZF1 CEBPG ITPRIP SFR1 GSTO1 CFAP58 CFAP58-AS1
GH10I104342 Enhancer 0.9 Ensembl ENCODE dbSUPER 25.5 -4.9 -4867 2.4 MEIS2 PKNOX1 IKZF1 PRDM10 NR2F2 ITPRIP CFAP58 CFAP58-AS1
GH10I104347 Enhancer 0.9 ENCODE dbSUPER 24.3 -9.1 -9121 1.1 HDAC1 LEF1 TEAD4 TAL1 EBF1 TCF12 ZNF316 NCOR1 CBFA2T2 NFE2 ITPRIP CFAP58 CFAP58-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ITPRIP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITPRIP gene promoter:

Genomic Locations for ITPRIP Gene

Genomic Locations for ITPRIP Gene
chr10:104,309,696-104,338,493
(GRCh38/hg38)
Size:
28,798 bases
Orientation:
Minus strand
chr10:106,071,894-106,098,162
(GRCh37/hg19)

Genomic View for ITPRIP Gene

Genes around ITPRIP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ITPRIP Gene

Proteins for ITPRIP Gene

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

    Protein Symbol:
    Q8IWB1-IPRI_HUMAN
    Recommended name:
    Inositol 1,4,5-trisphosphate receptor-interacting protein
    Protein Accession:
    Q8IWB1
    Secondary Accessions:
    • D3DRA5
    • Q5JU17
    • Q96MS8
    • Q9C0A9

    Protein attributes for ITPRIP Gene

    Size:
    547 amino acids
    Molecular mass:
    62060 Da
    Quaternary structure:
    • Interacts with ITPR.
    SequenceCaution:
    • Sequence=BAB21845.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ITPRIP Gene

Post-translational modifications for ITPRIP Gene

  • Ubiquitination at isoforms=66, posLast=244244, isoforms=261, and posLast=515515
  • Glycosylation at posLast=2727 and posLast=8080

Other Protein References for ITPRIP Gene

No data available for DME Specific Peptides for ITPRIP Gene

Domains & Families for ITPRIP Gene

Gene Families for ITPRIP Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ITPRIP Gene

Suggested Antigen Peptide Sequences for ITPRIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWB1

UniProtKB/Swiss-Prot:

IPRI_HUMAN :
  • Belongs to the ITPRIP family.
Family:
  • Belongs to the ITPRIP family.
genes like me logo Genes that share domains with ITPRIP: view

Function for ITPRIP Gene

Molecular function for ITPRIP Gene

UniProtKB/Swiss-Prot Function:
Enhances Ca(2+)-mediated inhibition of inositol 1,4,5-triphosphate receptor (ITPR) Ca(2+) release.

Phenotypes From GWAS Catalog for ITPRIP Gene

genes like me logo Genes that share phenotypes with ITPRIP: view

Animal Models for ITPRIP Gene

MGI Knock Outs for ITPRIP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITPRIP Gene

Localization for ITPRIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITPRIP Gene

Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITPRIP gene
Compartment Confidence
plasma membrane 4
extracellular 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ITPRIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ITPRIP: view

Pathways & Interactions for ITPRIP Gene

SuperPathways for ITPRIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for ITPRIP Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ITPRIP Gene

Drugs & Compounds for ITPRIP Gene

No Compound Related Data Available

Transcripts for ITPRIP Gene

Unigene Clusters for ITPRIP Gene

Inositol 1,4,5-trisphosphate receptor interacting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITPRIP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1: -
SP2:
SP3: - - -

Relevant External Links for ITPRIP Gene

GeneLoc Exon Structure for
ITPRIP
ECgene alternative splicing isoforms for
ITPRIP

Expression for ITPRIP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITPRIP Gene

This gene is overexpressed in Whole Blood (x7.4).

Protein differential expression in normal tissues from HIPED for ITPRIP Gene

This gene is overexpressed in Bone (22.8), Breast (11.2), Peripheral blood mononuclear cells (9.9), and Adrenal (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITPRIP Gene



Protein tissue co-expression partners for ITPRIP Gene

NURSA nuclear receptor signaling pathways regulating expression of ITPRIP Gene:

ITPRIP

SOURCE GeneReport for Unigene cluster for ITPRIP Gene:

Hs.523252

mRNA Expression by UniProt/SwissProt for ITPRIP Gene:

Q8IWB1-IPRI_HUMAN
Tissue specificity: Detected in brain where it is concentrated in cerebellar Purkinje cells (at protein level).

Evidence on tissue expression from TISSUES for ITPRIP Gene

  • Nervous system(4.3)
  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with ITPRIP: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ITPRIP Gene

Orthologs for ITPRIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITPRIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITPRIP 33 34
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia ITPRIP 33 34
  • 87.51 (n)
dog
(Canis familiaris)
Mammalia ITPRIP 33 34
  • 87.34 (n)
rat
(Rattus norvegicus)
Mammalia LOC100912218 33
  • 82.63 (n)
mouse
(Mus musculus)
Mammalia Itprip 33 16 34
  • 81.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ITPRIP 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITPRIP 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITPRIP 33 34
  • 65.56 (n)
lizard
(Anolis carolinensis)
Reptilia ITPRIP 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itprip 33
  • 59.8 (n)
zebrafish
(Danio rerio)
Actinopterygii itprip 33 34
  • 54.95 (n)
Species where no ortholog for ITPRIP 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITPRIP Gene

ENSEMBL:
Gene Tree for ITPRIP (if available)
TreeFam:
Gene Tree for ITPRIP (if available)

Paralogs for ITPRIP Gene

Paralogs for ITPRIP Gene

(1) SIMAP similar genes for ITPRIP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ITPRIP: view

Variants for ITPRIP Gene

Sequence variations from dbSNP and Humsavar for ITPRIP Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000138883 -- 104,330,003(-) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000180583 -- 104,325,511(-) C/T intron_variant
rs1000206992 -- 104,324,673(-) AAAA/AAAAA intron_variant
rs1000234357 -- 104,325,803(-) A/C intron_variant
rs1000333009 -- 104,319,002(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ITPRIP Gene

Variant ID Type Subtype PubMed ID
esv1968684 CNV deletion 18987734
nsv474104 CNV novel sequence insertion 20440878
nsv951841 CNV deletion 24416366

Variation tolerance for ITPRIP Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITPRIP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPRIP

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

Disorders for ITPRIP Gene

Additional Disease Information for ITPRIP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ITPRIP Gene.

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

Publications for ITPRIP Gene

  1. DANGER, a novel regulatory protein of inositol 1,4,5-trisphosphate-receptor activity. (PMID: 16990268) van Rossum DB … Snyder SH (The Journal of biological chemistry 2006) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ITPRIP Gene

Sources for ITPRIP Gene

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