Aliases for ITPRID1 Gene

Aliases for ITPRID1 Gene

  • ITPR Interacting Domain Containing 1 2 3 5
  • ITPR-Interacting Domain-Containing Protein 1 3 4
  • Coiled-Coil Domain-Containing Protein 129 3 4
  • Coiled-Coil Domain Containing 129 2 3
  • Protein ITPRID1 3 4
  • CCDC129 3 4

External Ids for ITPRID1 Gene

Previous HGNC Symbols for ITPRID1 Gene

  • CCDC129

Summaries for ITPRID1 Gene

GeneCards Summary for ITPRID1 Gene

ITPRID1 (ITPR Interacting Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is ITPRID2.

Additional gene information for ITPRID1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITPRID1 Gene

Genomics for ITPRID1 Gene

GeneHancer (GH) Regulatory Elements for ITPRID1 Gene

Promoters and enhancers for ITPRID1 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
GH07J031514 Promoter 0.3 EPDnew 500.7 0.0 0 0.1 ITPRID1 piR-47086-282
GH07J031478 Enhancer 0.5 Ensembl 11.1 -35.7 -35670 1.6 BATF IRF4 IKZF1 JUNB SPI1 IKZF2 ETV6 DPF2 ITPRID1 piR-48950-194 lnc-NEUROD6-2
GH07J031539 Enhancer 0.4 ENCODE 12 +26.6 26590 1.3 ZNF217 CTBP1 FOXA1 DPF2 SMARCE1 ITPRID1 HSALNG0057059 HSALNG0057060
GH07J031487 Enhancer 0.2 Ensembl 11.2 -26.7 -26670 0.4 ITPRID1 lnc-NEUROD6-2 piR-48950-194
GH07J031489 Enhancer 0.2 Ensembl 11.2 -26.2 -26170 0.2 ITPRID1 lnc-NEUROD6-2 piR-48950-194
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITPRID1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITPRID1

Genomic Locations for ITPRID1 Gene

Genomic Locations for ITPRID1 Gene
chr7:31,514,071-31,658,720
(GRCh38/hg38)
Size:
144,650 bases
Orientation:
Plus strand
chr7:31,553,704-31,698,334
(GRCh37/hg19)
Size:
144,631 bases
Orientation:
Plus strand

Genomic View for ITPRID1 Gene

Genes around ITPRID1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITPRID1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITPRID1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITPRID1 Gene

Proteins for ITPRID1 Gene

  • Protein details for ITPRID1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRS4-ITPI1_HUMAN
    Recommended name:
    Protein ITPRID1
    Protein Accession:
    Q6ZRS4
    Secondary Accessions:
    • A2RU17
    • B3KTI9
    • B4DHB0
    • B4E2R1
    • F5H3V5

    Protein attributes for ITPRID1 Gene

    Size:
    1044 amino acids
    Molecular mass:
    115403 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG65223.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ITPRID1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITPRID1 Gene

Post-translational modifications for ITPRID1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ITPRID1 Gene

Domains & Families for ITPRID1 Gene

Gene Families for ITPRID1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ITPRID1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ITPRID1 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 129 (CC129_HUMAN)
genes like me logo Genes that share domains with ITPRID1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ITPRID1 Gene

Function for ITPRID1 Gene

Phenotypes From GWAS Catalog for ITPRID1 Gene

Gene Ontology (GO) - Molecular Function for ITPRID1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
genes like me logo Genes that share ontologies with ITPRID1: view

Phenotypes for ITPRID1 Gene

genes like me logo Genes that share phenotypes with ITPRID1: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ITPRID1 Gene

Localization for ITPRID1 Gene

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 ITPRID1 gene
Compartment Confidence
nucleus 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ITPRID1 Gene

Pathways & Interactions for ITPRID1 Gene

PathCards logo

SuperPathways for ITPRID1 Gene

No Data Available

Interacting Proteins for ITPRID1 Gene

;

Gene Ontology (GO) - Biological Process for ITPRID1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ITPRID1 Gene

Drugs & Compounds for ITPRID1 Gene

No Compound Related Data Available

Transcripts for ITPRID1 Gene

mRNA/cDNA for ITPRID1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITPRID1 Gene

No ASD Table

Relevant External Links for ITPRID1 Gene

GeneLoc Exon Structure for
ITPRID1

Expression for ITPRID1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITPRID1

SOURCE GeneReport for Unigene cluster for ITPRID1 Gene:

Hs.224269

Evidence on tissue expression from TISSUES for ITPRID1 Gene

  • Nervous system(4.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITPRID1 Gene

Orthologs for ITPRID1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITPRID1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC129 31 30
  • 99.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC129 31 30
  • 80.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC129 31 30
  • 78.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc129 30
  • 72.82 (n)
mouse
(Mus musculus)
Mammalia Ccdc129 31 30
  • 72.68 (n)
OneToOne
Itprid1 17
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
OneToMany
-- 31
  • 23 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CCDC129 31
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC129 30
  • 60.52 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC129 31
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10580 30
zebrafish
(Danio rerio)
Actinopterygii ccdc129 31
  • 18 (a)
OneToOne
Species where no ortholog for ITPRID1 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 ITPRID1 Gene

ENSEMBL:
Gene Tree for ITPRID1 (if available)
TreeFam:
Gene Tree for ITPRID1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITPRID1: view image

Paralogs for ITPRID1 Gene

Paralogs for ITPRID1 Gene

genes like me logo Genes that share paralogs with ITPRID1: view

Variants for ITPRID1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITPRID1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs386352287 Uncertain Significance: not provided 31,574,563(+) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
VAR_035496 A colorectal cancer sample p.Leu105Val
rs10247620 - p.Cys809Tyr
rs10252720 - p.His377Arg
rs4141001 - p.Ala490Val

Additional dbSNP identifiers (rs#s) for ITPRID1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ITPRID1 Gene

Variant ID Type Subtype PubMed ID
dgv1096n67 CNV loss 20364138
dgv11264n54 CNV loss 21841781
dgv11265n54 CNV loss 21841781
dgv11266n54 CNV loss 21841781
dgv11267n54 CNV loss 21841781
dgv11268n54 CNV loss 21841781
dgv166e180 CNV loss 20482838
esv1756820 CNV insertion 17803354
esv24313 CNV loss 19812545
esv2448786 CNV insertion 19546169
esv2670415 CNV deletion 23128226
esv2752155 CNV gain 17911159
esv3340915 CNV insertion 20981092
esv3418820 CNV duplication 20981092
esv3431427 CNV duplication 20981092
esv3541423 CNV deletion 23714750
esv3612721 CNV loss 21293372
esv3612723 CNV gain 21293372
esv3612724 CNV gain 21293372
esv3891094 CNV gain 25118596
esv995660 CNV deletion 20482838
nsv1068321 OTHER inversion 25765185
nsv1125425 OTHER inversion 24896259
nsv1133649 CNV deletion 24896259
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv606550 CNV loss 21841781
nsv606560 CNV loss 21841781
nsv819342 CNV loss 19587683

Variation tolerance for ITPRID1 Gene

Residual Variation Intolerance Score: 98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.57; 93.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITPRID1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPRID1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPRID1 Gene

Disorders for ITPRID1 Gene

Additional Disease Information for ITPRID1

No disorders were found for ITPRID1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITPRID1 Gene

Publications for ITPRID1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 54
  2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54
  3. Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. (PMID: 25854761) Zuo X … Zhang X (Nature communications 2015) 3 54
  4. Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. (PMID: 24578207) Opherk C … Dichgans M (Stroke 2014) 3 54
  5. 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 54

Products for ITPRID1 Gene

Sources for ITPRID1 Gene