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    RINT1 RAD50 interactor 1 [ Homo sapiens (human) ]

    Gene ID: 60561, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RINT1provided by HGNC
    Official Full Name
    RAD50 interactor 1provided by HGNC
    Primary source
    HGNC:HGNC:21876
    See related
    Ensembl:ENSG00000135249 MIM:610089; AllianceGenome:HGNC:21876
    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
    ILFS3; RINT-1
    Summary
    This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in testis (RPKM 8.2), bone marrow (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RINT1 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105532201..105567677)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106846396..106881882)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105172648..105208124)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105107997-105108545 Neighboring gene pseudouridine synthase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105160613-105161230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105161545-105162199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105163483-105163983 Neighboring gene ring finger protein 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172266-105172843 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172844-105173420 Neighboring gene EFCAB10 antisense RNA 1 Neighboring gene EF-hand calcium binding domain 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221332-105221844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221845-105222355 Neighboring gene Y-box binding protein 1 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Integrative functional genomics identifies RINT1 as a novel GBM oncogene. Quayle SN, et al. Neuro Oncol, 2012 Nov. PMID 23074196, Free PMC Article
    2. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Cousin MA, et al. Am J Hum Genet, 2019 Jul 3. PMID 31204009, Free PMC Article
    3. Reevaluation of RINT1 as a breast cancer predisposition gene. Li N, et al. Breast Cancer Res Treat, 2016 Sep. PMID 27544226
    4. Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition. Cavaillé M, et al. Genes Chromosomes Cancer, 2021 Feb. PMID 33099839, Free PMC Article
    5. RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve Cellular Homeostasis in Pancreatic Cancer. Arnold F, et al. Cancer Res, 2021 Apr 1. PMID 33531371

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve Cellular Homeostasis in Pancreatic Cancer.
      Title: RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve Cellular Homeostasis in Pancreatic Cancer.
    2. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
      Title: RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
    3. Study presents evidence that in the Caucasian population, RINT1 does not represent a moderate- penetrance breast cancer susceptibility gene, and find no evidence to support an association of RINT1 mutation with Lynch syndrome-related cancer incidence in breast cancer families.
      Title: Reevaluation of RINT1 as a breast cancer predisposition gene.
    4. these data are more consistent with the hypothesis that RINT1 functions as an oncogene rather than a tumor suppressor gene in the context of colorectal cancer.
      Title: Evaluation of Rint1 as a modifier of intestinal tumorigenesis and cancer risk.
    5. HPV E2 protein targets Rad50-interacting protein 1 (Rint1) to facilitate virus genome replication.
      Title: Association of Human Papillomavirus 16 E2 with Rad50-Interacting Protein 1 Enhances Viral DNA Replication.
    6. RINT-1 interacts with MSP58 and UBF within nucleoli and plays a role in ribosomal gene transcription.
      Title: RINT-1 interacts with MSP58 within nucleoli and plays a role in ribosomal gene transcription.
    7. Results suggest that high RAD50 interactor 1 (RINT1) expression may represent a risk factor for low-grade gliomas (LGGs)-related seizures.
      Title: Expression of RINT1 predicts seizure occurrence and outcomes in patients with low-grade gliomas.
    8. Results identified RINT1 as a putative breast cancer predisposition gene that also seems to be associated with risk for a spectrum of other cancers similar to those that have previously been described for Lynch syndrome.
      Title: Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
    9. RINT-1 is also required for endosome-to-trans-Golgi network trafficking.
      Title: A new role for RINT-1 in SNARE complex assembly at the trans-Golgi network in coordination with the COG complex.
    10. RINT1 was validated as a novel glioblastoma oncogene
      Title: Integrative functional genomics identifies RINT1 as a novel GBM oncogene.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    Associated conditions

    Description Tests
    Infantile liver failure syndrome 3
    MedGen: C5231437 OMIM: 618641 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-07-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2024-07-10)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp667H2324

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic G2 DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ER to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of ER to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Dsl1/NZR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Dsl1/NZR complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Dsl1/NZR complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    RAD50-interacting protein 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_051951.1 RefSeqGene

      Range
      5121..40597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346599.2 → NP_001333528.1  RAD50-interacting protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AA281630, AC073073
      UniProtKB/TrEMBL
      B3KP18

    2. NM_001346600.2 → NP_001333529.1  RAD50-interacting protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA281630, AC073073
      Conserved Domains (1) summary
      pfam04437
      Location:1 → 443
      RINT1_TIP1; RINT-1 / TIP-1 family

    3. NM_001346601.2 → NP_001333530.1  RAD50-interacting protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AA281630, AC073073

    4. NM_001346603.2 → NP_001333532.1  RAD50-interacting protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA281630, AC073073
      Conserved Domains (1) summary
      pfam04437
      Location:1 → 443
      RINT1_TIP1; RINT-1 / TIP-1 family

    5. NM_021930.6 → NP_068749.3  RAD50-interacting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_068749.3

      Status: REVIEWED

      Source sequence(s)
      BC068483
      Consensus CDS
      CCDS34726.1
      UniProtKB/Swiss-Prot
      Q6NUQ1, Q75MG9, Q75MH0, Q96IW8, Q9H229, Q9HAD9
      UniProtKB/TrEMBL
      B3KP18
      Related
      ENSP00000257700.2, ENST00000257700.7
      Conserved Domains (1) summary
      pfam04437
      Location:304 → 784
      RINT1_TIP1; RINT-1 / TIP-1 family

    RNA

    1. NR_144478.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AA281630, AC073073
      Related
      ENST00000497979.5

    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
      105532201..105567677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420686.1 → XP_047276642.1  RAD50-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KP18

    2. XM_011516458.4 → XP_011514760.1  RAD50-interacting protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011514760.1

      Conserved Domains (1) summary
      pfam04437
      Location:1 → 443
      RINT1_TIP1; RINT-1 / TIP-1 family

    3. XM_005250524.5 → XP_005250581.1  RAD50-interacting protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005250581.1

      Conserved Domains (1) summary
      pfam04437
      Location:1 → 443
      RINT1_TIP1; RINT-1 / TIP-1 family

    4. XM_047420687.1 → XP_047276643.1  RAD50-interacting protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      106846396..106881882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358760.1 → XP_054214735.1  RAD50-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KP18

    2. XM_054358761.1 → XP_054214736.1  RAD50-interacting protein 1 isoform X2

    3. XM_054358762.1 → XP_054214737.1  RAD50-interacting protein 1 isoform X2

    4. XM_054358763.1 → XP_054214738.1  RAD50-interacting protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUQ1.1 GenPept UniProtKB/Swiss-Prot:Q6NUQ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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