RINT1 (RAD50 interactor 1)

Gene Basic Information

Gene Basic Information

symbol
RINT1
locus group
protein-coding gene
location
7q22.3
gene_family
-
alias symbol
FLJ11785|RINT-1
alias name
None
entrez id
60561
ensembl gene id
ENSG00000135249
ucsc gene id
uc003vda.1
refseq accession
NM_021930
hgnc_id
HGNC:21876
approved reserved
2006-03-02

Chromosome Location

Chromosome Location

7q22.3

Gene Summary

Gene Summary

RINT1（RAD50 Interactor 1）是一种重要的基因，编码的蛋白质在细胞周期调控、DNA损伤修复和基因组稳定性维持中发挥关键作用。RINT1蛋白主要定位于内质网和高尔基体，参与膜运输和囊泡运输过程，同时也与DNA损伤修复复合体（如MRE11-RAD50-NBS1复合体）相互作用，帮助修复DNA双链断裂。该基因的突变可能导致基因组不稳定，增加癌症风险，尤其是乳腺癌和卵巢癌。RINT1属于RINT1/TIP-1基因家族，该家族成员通常参与细胞内运输和信号转导，具有调控膜动力学和细胞器功能的共性。如果RINT1过表达，可能干扰正常的DNA修复机制，导致细胞周期紊乱或异常增殖；而降低表达则可能削弱DNA修复能力，增加突变积累和染色体不稳定性，从而促进肿瘤发生。此外，RINT1还与神经退行性疾病有关，其功能异常可能影响神经元存活。研究还发现，RINT1通过调控Wnt/β-catenin等信号通路影响细胞增殖和分化。因此，RINT1在维持细胞稳态和疾病发展中具有多重作用，是潜在的癌症治疗靶点。

OMIM entry for RINT1     Wikipedia entry for RINT1

Gene Sequence

Gene Sequence

Nucleotide sequence of RINT1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MLPAGEIGAS PAAPCCSESG DERKNLEEKS DINVTVLIGS
41KQVSEGTDNG DLPSYVSAFI EKEVGNDLKS LKKLDKLIEQ
81 RTVSKMQLE EQVLTISSEI PKRIRSALKN AEESKQFLNQ
121FLEQETHLFS AINSHLLTAQ PWMDDLGTMI SQIEEIERHL
161A YLKWISQI EELSDNIQQY LMTNNVPEAA STLVSMAELD
201IKLQESSCTH LLGFMRATVK FWHKILKDKL TSDFEEILAQ
241LH WPFIAPP QSQTVGLSRP ASAPEIYSYL ETLFCQLLKL
281QTSDELLTEP KQLPEKYSLP ASPSVILPIQ VMLTPLQKRF
321RYH FRGNRQ TNVLSKPEWY LAQVLMWIGN HTEFLDEKIQ
361PILDKVGSLV NARLEFSRGL MMLVLEKLAT DIPCLLYDDN
401LFCH LVDEV LLFERELHSV HGYPGTFASC MHILSEETCF
441QRWLTVERKF ALQKMDSMLS SEAAWVSQYK DITDVDEMKV
481PDCAE TFMT LLLVITDRYK NLPTASRKLQ FLELQKDLVD
521DFRIRLTQVM KEETRASLGF RYCAILNAVN YISTVLADWA
561DNVFFL QLQ QAALEVFAEN NTLSKLQLGQ LASMESSVFD
601DMINLLERLK HDMLTRQVDH VFREVKDAAK LYKKERWLSL
641PSQSEQA VM SLSSSACPLL LTLRDHLLQL EQQLCFSLFK
681IFWQMLVEKL DVYIYQEIIL ANHFNEGGAA QLQFDMTRNL
721FPLFSHYC K RPENYFKHIK EACIVLNLNV GSALLLKDVL
761QSASGQLPAT AALNEVGIYK LAQQDVEILL NLRTNWPNTG
801K
Structure predicted by AlphaFold DB(UniProt: Q6NUQ1). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of RINT1:           Showing partial SNPs
rs13533       rs818624       rs860182       rs861761       rs864687       rs865326       rs1728645       rs2272169       rs3835193       rs5886358       rs10271614       rs17149782       rs34310648       rs35531972       rs35971380       rs36058979       rs55834096      

Gene Expression

Gene Expression

Tissue expression of RINT1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GAACGTCATCTTGCTTACCT
58
CCTCCGGTACATTATTGGTC
57
AAAGGAAGAACCTCGAGGAG
59
CCTTCACTGACTTGTTTACTTCC
59
CTACTCTTGGTTATAACTGACAGG
58
AGTCCTTCTGTAACTCCAGG
58
ACAGAACGAAACTCTGTCTC
57
AAATTGTAAGTACTGGCTCCAG
58
AAGGAAGTTGGAAATGACCT
57
AAGTACCTGTTCTTCTAACTGC
58
AAGGAAGTTGGAAATGACCT
57
AGTACCTGTTCTTCTAACTGC
57
ACAGAACGAAACTCTGTCTC
57
AATTGTAAGTACTGGCTCCAG
57
CGAACGTCATCTTGCTTACC
59
CCGGTACATTATTGGTCATCAG
59
AAAGGAAGAACCTCGAGGA
58
CCTTCACTGACTTGTTTACTTCC
59
CTCTTGGTTATAACTGACAGGT
57
CTAAGTCCTTCTGTAACTCCAG
57

Gene Ontology

Subcellular localization of RINT1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for RINT1:

GO ID
Protein
Source DB
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005515
Q6NUQ1 (UniProtKB)
IPI
GO:0005783
Q6NUQ1 (UniProtKB)
IDA
GO:0005789
Q6NUQ1 (UniProtKB)
IEA
GO:0005829
Q6NUQ1 (UniProtKB)
TAS
GO:0005829
Q6NUQ1 (UniProtKB)
TAS
GO:0006890
Q6NUQ1 (UniProtKB)
TAS
GO:0007049
Q6NUQ1 (UniProtKB)
IEA
GO:0015031
Q6NUQ1 (UniProtKB)
IEA
GO:0060628
Q6NUQ1 (UniProtKB)
IMP
GO:0070939
Q6NUQ1 (UniProtKB)
IDA
GO:1902504
Q6NUQ1 (UniProtKB)
IMP

Related microRNA

Related microRNA

microRNAs potentially regulating RINT1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Breast Carcinoma 0.000542884 2 0 BeFree
Malignant neoplasm of breast 0.000542884 2 0 BeFree
Hereditary Nonpolyposis Colorectal Cancer 0.000542884 2 0 BeFree
Seizures 0.000271442 1 0 BeFree
Low grade glioma 0.000271442 1 0 BeFree

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