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RINT1 RAD50 interactor 1 [ Homo sapiens (human) ]

Gene ID: 60561, updated on 25-Nov-2021

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
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
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Genomic context

See RINT1 in Genome Data Viewer
Location:
7q22.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (105532170..105567678)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105172648..105208124)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene pseudouridine synthase 7 Neighboring gene ring finger protein 181 pseudogene Neighboring gene EF-hand calcium binding domain 10 Neighboring gene Y-box binding protein 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 12225

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • DKFZp667H2324

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of Dsl1/NZR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001346599.2NP_001333528.1  RAD50-interacting protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AA281630, AC073073
  2. NM_001346600.2NP_001333529.1  RAD50-interacting protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AA281630, AC073073
    Conserved Domains (1) summary
    pfam04437
    Location:1443
    RINT1_TIP1; RINT-1 / TIP-1 family
  3. NM_001346601.2NP_001333530.1  RAD50-interacting protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AA281630, AC073073
  4. NM_001346603.2NP_001333532.1  RAD50-interacting protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AA281630, AC073073
    Conserved Domains (1) summary
    pfam04437
    Location:1443
    RINT1_TIP1; RINT-1 / TIP-1 family
  5. NM_021930.6NP_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
    Related
    ENSP00000257700.2, ENST00000257700.7
    Conserved Domains (1) summary
    pfam04437
    Location:304784
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    105532170..105567678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446855.1XP_024302623.1  RAD50-interacting protein 1 isoform X1

    Conserved Domains (1) summary
    pfam04437
    Location:304808
    RINT1_TIP1; RINT-1 / TIP-1 family
  2. XM_024446856.1XP_024302624.1  RAD50-interacting protein 1 isoform X2

    Conserved Domains (1) summary
    pfam04437
    Location:1467
    RINT1_TIP1; RINT-1 / TIP-1 family
  3. XM_005250524.4XP_005250581.1  RAD50-interacting protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005250581.1

    Conserved Domains (1) summary
    pfam04437
    Location:1443
    RINT1_TIP1; RINT-1 / TIP-1 family
  4. XM_011516458.3XP_011514760.1  RAD50-interacting protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011514760.1

    Conserved Domains (1) summary
    pfam04437
    Location:1443
    RINT1_TIP1; RINT-1 / TIP-1 family
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