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    ITPRIPL1 ITPRIP like 1 [ Homo sapiens (human) ]

    Gene ID: 150771, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ITPRIPL1provided by HGNC
    Official Full Name
    ITPRIP like 1provided by HGNC
    Primary source
    HGNC:HGNC:29371
    See related
    Ensembl:ENSG00000198885 MIM:620821; AllianceGenome:HGNC:29371
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    D1B; KIAA1754L
    Summary
    Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 4.7), lymph node (RPKM 1.3) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ITPRIPL1 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96325317..96330507)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96831925..96837116)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96991055..96996245)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16213 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:96933152-96934351 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:96944520-96945719 Neighboring gene small nuclear ribonucleoprotein U5 subunit 200 Neighboring gene cytosolic iron-sulfur assembly component 1 Neighboring gene Sharpr-MPRA regulatory region 61 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:96972365-96972993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96991242-96991742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97000977-97001818 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97001819-97002660 Neighboring gene non-SMC condensin I complex subunit H Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97087565-97088066 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:97093193-97094392 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:97128139-97128886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97151159-97151851 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:97158713-97159372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97162590-97163590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:97163591-97164590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16218 Neighboring gene neuralized E3 ubiquitin protein ligase 3

    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. ITPRIPL1 binds CD3ε to impede T cell activation and enable tumor immune evasion. Deng S, et al. Cell, 2024 Apr 25. PMID 38614099
    2. The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4. Chen W, et al. Breast Cancer Res Treat, 2023 Oct. PMID 37433992, Free PMC Article
    3. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Lim J, et al. Cell, 2006 May 19. PMID 16713569
    4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    5. An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity. Zhang Y, et al. Cell Chem Biol, 2022 Jan 20. PMID 34672954, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inositol 1,4,5-trisphosphate receptor-interacting protein-like 1
    Names
    DANGER family member 1B
    inositol 1,4,5-triphosphate receptor-interacting protein-like 1
    inositol 1,4,5-trisphosphate receptor interacting protein-like 1

    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_050731.2 RefSeqGene

      Range
      5002..8038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008949.3 → NP_001008949.1  inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 isoform 2

      See identical proteins and their annotated locations for NP_001008949.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' sequence, as compared to variant 1. The encoded isoform 2 has a distinct and shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC021188, BC073153, CN263466, R37132
      Consensus CDS
      CCDS46360.1
      UniProtKB/Swiss-Prot
      F5H1L8, Q6GPH6, Q8NE61
      UniProtKB/TrEMBL
      H7C0T2
      Related
      ENSP00000389308.2, ENST00000439118.3
      Conserved Domains (1) summary
      pfam03281
      Location:356 → 522
      Mab-21; Mab-21 protein

    2. NM_001163523.2 → NP_001156995.1  inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 isoform 3

      See identical proteins and their annotated locations for NP_001156995.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3, 4, and 5 all encode the same isoform (3).
      Source sequence(s)
      AC021188
      Consensus CDS
      CCDS54378.1
      UniProtKB/TrEMBL
      H7C0T2
      Related
      ENSP00000439566.1, ENST00000536814.1
      Conserved Domains (1) summary
      pfam03281
      Location:348 → 514
      Mab-21; Mab-21 protein

    3. NM_001163524.1 → NP_001156996.1  inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 isoform 3

      See identical proteins and their annotated locations for NP_001156996.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' splice pattern and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3, 4, and 5 all encode the same isoform (3).
      Source sequence(s)
      AC021188
      Consensus CDS
      CCDS54378.1
      UniProtKB/TrEMBL
      H7C0T2
      Conserved Domains (1) summary
      pfam03281
      Location:348 → 514
      Mab-21; Mab-21 protein

    4. NM_001324490.1 → NP_001311419.1  inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate 5' splice pattern and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3, 4, and 5 all encode the same isoform (3).
      Source sequence(s)
      BC073153, BI829328, CD300165, R37132
      Consensus CDS
      CCDS54378.1
      UniProtKB/TrEMBL
      H7C0T2
      Conserved Domains (1) summary
      pfam03281
      Location:348 → 514
      Mab-21; Mab-21 protein

    5. NM_178495.6 → NP_848590.3  inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC021188, BC034503, BC073153, BI829328, R37132
      Consensus CDS
      CCDS33250.1
      UniProtKB/TrEMBL
      H7C0T2
      Related
      ENSP00000355121.4, ENST00000361124.5
      Conserved Domains (1) summary
      pfam03281
      Location:364 → 530
      Mab-21; Mab-21 protein

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      96325317..96330507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003427.2 → XP_016858916.1  inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 isoform X1

      UniProtKB/Swiss-Prot
      F5H1L8, Q6GPH6, Q8NE61
      UniProtKB/TrEMBL
      H7C0T2
      Conserved Domains (1) summary
      pfam03281
      Location:356 → 522
      Mab-21; Mab-21 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      96831925..96837116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6GPH6.1 GenPept UniProtKB/Swiss-Prot:Q6GPH6

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