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ITPRIPL1 ITPRIP like 1 [ Homo sapiens (human) ]

Gene ID: 150771, updated on 27-Nov-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, Nov 2024]
Expression
Broad expression in testis (RPKM 4.7), lymph node (RPKM 1.3) and 15 other tissues See more
Orthologs
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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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