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

Gene ID: 223075, updated on 3-Apr-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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
7p14.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31514090..31658720)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31651809..31797007)
105.20220307 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)

Genotypes

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_2023_10

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

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

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

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

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

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