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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RINT1 Gene

protein-coding   GIFtS: 48
GCID: GC07P105172

RAD50 interactor 1

 Explore 2 diseases affiliated with
RINT1 via our new
 Human Malady Compendium 
Biological research products
for RINT1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAD50 Interactor 11 2 3
RINT-11 2 3
FLJ117851
HsRINT-13
RAD50-Interacting Protein 12
HsRINT-13

External Ids:    HGNC: 218761   Entrez Gene: 605612   Ensembl: ENSG000001352497   OMIM: 6100895   UniProtKB: Q6NUQ13   

Export aliases for RINT1 gene to outside databases

Previous GC identifers: GC07P104959 GC07P099530


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RINT1_HUMAN, Q6NUQ1
Function: Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum. May play a role
in cell cycle checkpoint control. Essential for telomere length control

Gene Wiki entry for RINT1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RINT1 gene promoter:
         HOXA9B   HOXA9   AML1a   MyoD   HNF-4alpha2   HNF-4alpha1   CREB   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RINT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RINT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RINT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.3   Ensembl cytogenetic band:  7q22.3   HGNC cytogenetic band: 7q22.2

RINT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RINT1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P105172:  view genomic region     (about GC identifiers)

Start:
105,172,532 bp from pter      End:
105,208,124 bp from pter
Size:
35,593 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 104,533,083-104,568,680     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RINT1_HUMAN, Q6NUQ1 (See protein sequence)
Recommended Name: RAD50-interacting protein 1  
Size: 792 amino acids; 90632 Da
Subunit: Associated with a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L, and SEC22B. Interacts directly with
BNIP1/SEC20L and ZW10. Interacts with RAD50 during late S and G2/M phases. Interacts with RBL2, preferentially with
the active, hypophosphorylated form
Subcellular location: Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein
Developmental stage: Expressed throughout the cell cycle
Miscellaneous: According to PubMed:11096100, a longer form, which may be due to the differential initiation of
translation using a non-AUG codon, may exist. However, the existence of such form has not been clearly demonstrated
Sequence caution: Sequence=AAG42101.1; Type=Erroneous initiation; Sequence=AAQ96849.1; Type=Erroneous gene model
prediction; Sequence=AAQ96850.1; Type=Erroneous gene model prediction; Sequence=BAB13910.1; Type=Erroneous initiation;
Secondary accessions: Q75MG9 Q75MH0 Q96IW8 Q9H229 Q9HAD9

Explore the universe of human proteins at neXtProt for RINT1: NX_Q6NUQ1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6NUQ1

  • RINT1 Protein expression data from MOPED and PaxDb:    About this image 
    RINT1 Protein Expression
    REFSEQ proteins: NP_068749.3  
    ENSEMBL proteins: 
     ENSP00000257700   ENSP00000418805   ENSP00000417107   ENSP00000417954   ENSP00000420582  

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    Uscn Proteins for RINT1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005783endoplasmic reticulum IDA15029241
    GO:0005789endoplasmic reticulum membrane IEA--

    RINT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RINT1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RINT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007528 RINT1_TIP1

    Graphical View of Domain Structure for InterPro Entry Q6NUQ1

    ProtoNet protein and cluster: Q6NUQ1

    UniProtKB/Swiss-Prot: RINT1_HUMAN, Q6NUQ1
    Similarity: Belongs to the RINT1 family
    Similarity: Contains 1 RINT1/TIP20 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RINT1_HUMAN, Q6NUQ1
    Function: Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum. May play a role
    in cell cycle checkpoint control. Essential for telomere length control

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15272311
         
    RINT1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for RINT1:
     G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rint1):
     embryogenesis  integument  mortality/aging  tumorigenesis 

    RINT1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Rint1tm1Whl for RINT1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RINT1 

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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RINT1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RINT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/13 Interacting proteins for RINT1 (Q6NUQ12, 3 ENSP000002577004) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2875597 I2D: score=3 STRING: ENSP00000344782
    BNIP3LO602382, 3, ENSP000003700034MINT-64660 I2D: score=4 STRING: ENSP00000370003
    SPTBN1Q010822, 3, ENSP000003492594MINT-64662 I2D: score=4 STRING: ENSP00000349259
    STX18Q9P2W93, ENSP000003058104I2D: score=1 STRING: ENSP00000305810
    ZW10O432643, ENSP000002001354I2D: score=3 STRING: ENSP00000200135
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--
    GO:0031572G2/M transition DNA damage checkpoint IMP11096100

    RINT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RINT1
    Search CenterWatch for drugs/clinical trials and news about RINT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RINT1 gene: 
    NM_021930.4  

    Unigene Cluster for RINT1:

    RAD50 interactor 1
    Hs.531388  [show with all ESTs]
    Unigene Representative Sequence: BC068483
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257700(uc003vda.1 uc010ljj.1) ENST00000467392 ENST00000482041
    ENST00000493041 ENST00000497979 ENST00000477285 ENST00000493258 ENST00000474123


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    Inhib. RNA
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    Additional cDNA sequence: 

    AF317622.1 AK021847.1 AK055508.1 AK057757.1 AK308126.1 AL832825.1 BC007120.2 BC068483.1 

    11 DOTS entries:

    DT.444997  DT.100787726  DT.100787729  DT.100702991  DT.91748463  DT.121058392  DT.70100530  DT.92420346 
    DT.95274998  DT.121058388  DT.91746257 

    24/166 AceView cDNA sequences (see all 166):

    BC068483 AL832825 AA281691 AA630407 AI263702 AW673182 BM452117 AA481640 
    CR601014 AI630746 AI621083 BP345265 BC007120 BQ446744 CB116147 CB988887 
    AW651721 BX281292 CK821954 AK057757 AA688082 CK821953 BM904766 AI285539 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for RINT1 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a ·
    SP1:                    -           -     -                                                                                                                     
    SP2:                    -                 -                                                                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17b · 17c ^ 18a · 18b · 18c ^ 19 ^ 20
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for RINT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RINT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATATGTTGAC
    RINT1 Expression
    About this image
    See RINT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RINT1

    SOURCE GeneReport for Unigene cluster: Hs.531388
        SABiosciences Custom PCR Arrays for RINT1

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RINT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RINT1 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rint11 , 5 RAD50 interactor 11, 5 84.64(n)1
    87.63(a)1
      5 (10.45 cM)5
    727721  NM_177323.31  NP_796297.21 
     237877115 
    chicken
    (Gallus gallus)
    Aves RINT11 RAD50 interactor 1 76.71(n)
    82.03(a)
      427848  XM_425422.3  XP_425422.2 
    lizard
    (Anolis carolinensis)
    Reptilia RINT16
    --
    81(a)
    1 ↔ 1
    5(96682920-96701530)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.131452 Xenopus laevis transcribed sequence with moderate similarity more 78.88(n)    BJ091849.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.280072 Transcribed sequences 73.26(n)    BM037294.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG86051 CG8605 42.68(n)
    31.82(a)
      38807  NM_139845.2  NP_648102.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MAG21 RINT-1 / TIP-1 domain-containing MAG2 protein 40.27(n)
    22.38(a)
      823924  NM_114638.2  NP_190354.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g07481001 hypothetical protein 39.69(n)
    23.28(a)
      4330726  NM_001054654.1  NP_001048119.1 


    ENSEMBL Gene Tree for RINT1 (if available)
    TreeFam Gene Tree for RINT1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/642 NCBI SNPs in RINT1 are shown (see all 642    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs17286491,2
    C,F,A,H--105170570(+) TCAAGA/GTGATC 1 -- us2k114Minor allele frequency- G:0.34EA NS NA WA CSA 668
    rs1894132761,2
    --105170592(+) TACTCA/GGATTT 1 -- us2k10--------
    rs69739741,2
    C,F--105170629(+) CAAAAC/TATCAC 1 -- us2k11Minor allele frequency- T:0.16NA 120
    rs1441492411,2
    --105170642(+) GTCAGA/GCGGCT 1 -- us2k10--------
    rs1810528371,2
    --105170714(+) AGACTC/TGAACC 1 -- us2k10--------
    rs1844804061,2
    --105170730(+) GGTGCC/TGGAGC 1 -- us2k10--------
    rs1892976151,2
    --105170800(+) GACCAC/GCACCT 1 -- us2k10--------
    rs1174815331,2
    F--105170819(+) CGGCTG/TCCAAG 1 -- us2k11Minor allele frequency- T:0.02EA 120
    rs1819587361,2
    C--105170820(+) GGCTGC/TCAAGA 1 -- us2k10--------
    rs1860208291,2
    --105170865(+) AGGCTC/GTCAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RINT1 (105172532 - 105208124 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RINT1
         1 CNV: 2705

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RINT1 for disorders           About GeneDecksing

    OMIM gene information: 610089    OMIM disorders: --

    2 diseases for RINT1:    About MalaCards
    ataxia    neuroblastoma


    Export disorders for RINT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RINT1 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with RINT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RINT-1, a novel Rad50-interacting protein, participates in radiation- induced G2/M checkpoint control. (PubMed id 11096100)1, 2, 3, 9 Xiao J.... Lee W.-H. (2001)
    2. Implication of ZW10 in membrane trafficking between the endoplasmic reticulum and Golgi. (PubMed id 15029241)1, 2, 3, 9 Hirose H.... Tagaya M. (2004)
    3. The Rb-related p130 protein controls telomere lengthening through an interaction with a Rad50-interacting protein, RINT-1. (PubMed id 16600870)1, 2, 9 Kong L.-J.... Nevins J.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Involvement of BNIP1 in apoptosis and endoplasmic reticulum membrane fusion. (PubMed id 15272311)1, 2 Nakajima K.... Tagaya M. (2004)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    8. RINT-1 serves as a tumor suppressor and maintains Golgi dynamics and centrosome integrity for cell survival. (PubMed id 17470549)1, 9 Lin X....Lee W.H. (2007)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 60561 HGNC: 21876 AceView: RINT-1 Ensembl:ENSG00000135249 euGenes: HUgn60561
    ECgene: RINT1 H-InvDB: RINT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RINT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RINT1 gene:
    Search GeneIP for patents involving RINT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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