RINT1 RAD50 interactor 1 [Homo sapiens (human)] - Gene

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

NG_051951.1 RefSeqGene

Range

5121..40597

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AA281630, AC073073

UniProtKB/TrEMBL

B3KP18
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
NM_001346601.2 → NP_001333530.1 RAD50-interacting protein 1 isoform 4

Status: REVIEWED

Source sequence(s)

AA281630, AC073073
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
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