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    ITPRID1 ITPR interacting domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 223075, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ITPRID1provided by HGNC
    Official Full Name
    ITPR interacting domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:27363
    See related
    Ensembl:ENSG00000180347 AllianceGenome:HGNC:27363
    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
    Also known as
    CCDC129
    Summary
    Predicted to enable signaling receptor binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ITPRID1 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31514090..31658720)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31651809..31797007)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31553704..31698334)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs297 Neighboring gene NANOG hESC enhancer GRCh37_chr7:31411185-31411804 Neighboring gene uncharacterized LOC105375224 Neighboring gene neuronal differentiation 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:31505615-31506326 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31506327-31507037 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:31517206-31518405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25823 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31690801-31691359 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:31749869-31750495 Neighboring gene phosphodiesterase 1C Neighboring gene protein phosphatase 1 regulatory subunit 17 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31807284-31808218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25824 Neighboring gene NANOG hESC enhancer GRCh37_chr7:31865149-31865650 Neighboring gene Sharpr-MPRA regulatory region 14950 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:31977838-31979037 Neighboring gene sorting nexin 2 pseudogene 2

    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. Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. Zuo X, et al. Nat Commun, 2015 Apr 9. PMID 25854761, Free PMC Article
    2. Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Opherk C, et al. Stroke, 2014 Apr. PMID 24578207
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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 genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein ITPRID1
    Names
    ITPR-interacting domain-containing protein 1
    coiled-coil domain containing 129
    coiled-coil domain-containing protein 129

    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.

    Genomic

    1. NG_051956.1 RefSeqGene

      Range
      5020..147434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257967.3 → NP_001244896.2  protein ITPRID1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005090, AC006044
      Consensus CDS
      CCDS5435.2
      UniProtKB/Swiss-Prot
      A2RU17, B3KTI9, B4DHB0, B4E2R1, F5H3V5, Q6ZRS4
      UniProtKB/TrEMBL
      A0A087WUB1
      Related
      ENSP00000478518.2, ENST00000615280.5
      Conserved Domains (2) summary
      pfam14722
      Location:114 → 256
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:846 → 931
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    2. NM_001257968.3 → NP_001244897.2  protein ITPRID1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006044
      UniProtKB/TrEMBL
      A0A087WUB1
      Conserved Domains (2) summary
      pfam14722
      Location:114 → 256
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:846 → 931
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    3. NM_194300.5 → NP_919276.2  protein ITPRID1 isoform 2

      See identical proteins and their annotated locations for NP_919276.2

      Status: REVIEWED

      Source sequence(s)
      AC006044
      Consensus CDS
      CCDS5435.2
      UniProtKB/Swiss-Prot
      A2RU17, B3KTI9, B4DHB0, B4E2R1, F5H3V5, Q6ZRS4
      UniProtKB/TrEMBL
      A0A087WUB1
      Conserved Domains (2) summary
      pfam14722
      Location:114 → 256
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:846 → 931
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    RNA

    1. NR_047565.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005090, AC006044

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      31514090..31658720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515213.3 → XP_011513515.1  protein ITPRID1 isoform X1

      See identical proteins and their annotated locations for XP_011513515.1

      UniProtKB/Swiss-Prot
      A2RU17, B3KTI9, B4DHB0, B4E2R1, F5H3V5, Q6ZRS4
      UniProtKB/TrEMBL
      A0A087WUB1
      Conserved Domains (2) summary
      pfam14722
      Location:114 → 256
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:846 → 931
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    2. XM_017011872.3 → XP_016867361.1  protein ITPRID1 isoform X2

      UniProtKB/TrEMBL
      A0A087WUB1
      Conserved Domains (2) summary
      pfam14722
      Location:114 → 256
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:846 → 931
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    3. XM_017011871.3 → XP_016867360.1  protein ITPRID1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU17, B3KTI9, B4DHB0, B4E2R1, F5H3V5, Q6ZRS4
      UniProtKB/TrEMBL
      A0A087WUB1
      Related
      ENSP00000384416.3, ENST00000407970.7
      Conserved Domains (2) summary
      pfam14722
      Location:114 → 256
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:846 → 931
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    4. XM_024446692.2 → XP_024302460.1  protein ITPRID1 isoform X3

      UniProtKB/TrEMBL
      A0A087WUB1
      Related
      ENSP00000387214.1, ENST00000409210.1
      Conserved Domains (2) summary
      pfam14722
      Location:22 → 164
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:754 → 839
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      31651809..31797007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357605.1 → XP_054213580.1  protein ITPRID1 isoform X1

      UniProtKB/TrEMBL
      A0A087WUB1

    2. XM_054357607.1 → XP_054213582.1  protein ITPRID1 isoform X2

      UniProtKB/TrEMBL
      A0A087WUB1

    3. XM_054357606.1 → XP_054213581.1  protein ITPRID1 isoform X1

      UniProtKB/TrEMBL
      A0A087WUB1

    4. XM_054357608.1 → XP_054213583.1  protein ITPRID1 isoform X3

      UniProtKB/TrEMBL
      A0A087WUB1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRS4.2 GenPept UniProtKB/Swiss-Prot:Q6ZRS4

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