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

RAB7L1 Gene

protein-coding   GIFtS: 51
GCID: GC01M205738

RAB7, member RAS oncogene family-like 1


(Previous symbol: RAB7L)
 Explore 3 diseases affiliated with
RAB7L1 via our new
 Human Malady Compendium 
Biological research products
for RAB7L1
    

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

Aliases
RAB7, Member RAS Oncogene Family-Like 11 2
RAB7L1 2
Rab-7-Like Protein 12 3
Ras-Related Protein Rab-7L12

External Ids:    HGNC: 97891   Entrez Gene: 89342   Ensembl: ENSG000001172807   OMIM: 6039495   UniProtKB: O149663   

Export aliases for RAB7L1 gene to outside databases

Previous GC identifers: GC01M203658 GC01M201198 GC01M202098 GC01M202915 GC01M202469 GC01M204003 GC01M176901


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

  --

(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB7L1 gene promoter:
         CREB   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB7L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB7L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB7L1


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

RAB7L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB7L1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M205738:  view genomic region     (about GC identifiers)

Start:
205,737,114 bp from pter      End:
205,744,610 bp from pter
Size:
7,497 bases      Orientation:
minus strand

(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: RAB7L_HUMAN, O14966 (See protein sequence)
Recommended Name: Ras-related protein Rab-7L1  
Size: 203 amino acids; 23155 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
Secondary accessions: B4E1K3 C9JE77
Alternative splicing: 3 isoforms:  O14966-1   O14966-2   O14966-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAB7L1: NX_O14966

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14966

  • RAB7L1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001129134.1  NP_001129135.1  NP_001129136.1  NP_003920.1  

    ENSEMBL proteins: 
     ENSP00000356107   ENSP00000235932   ENSP00000431483   ENSP00000416613   ENSP00000389899  
     ENSP00000402910  

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    Uscn Proteins for RAB7L1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--


    RAB7L1 for ontologies           About GeneDecksing



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

    RAB7L1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type

    Graphical View of Domain Structure for InterPro Entry O14966

    ProtoNet protein and cluster: O14966

    1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB7L_HUMAN, O14966
    Similarity: Belongs to the small GTPase superfamily. Rab family


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

    Function Summary:
         Genatlas biochemistry entry for RAB7L1:
    RAB-related GTP binding protein 7,homolog 1,RAS oncogene superfamily member,ubiquitously expressed,involved in the
    regulation of exocytotic and endocytotic pathways (signal transduction)

    miRNA
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    hsa-miR-26a-2* hsa-miR-607 hsa-miR-181a-2* hsa-miR-374c hsa-miR-3122 hsa-miR-124 hsa-miR-654-5p hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidRAB7L1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB7L1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS9284931
    GO:0005525GTP binding IEA--


    RAB7L1 for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for RAB7L1:
     Decreased influenza A virus in  Decreased viability of wild-ty  Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rab7l1):
     vision/eye 

    RAB7L1 for phenotypes           About GeneDecksing


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB7L1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RAB7L1 (O149663 ENSP000002359324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LSM7Q9UK453, ENSP000002526224I2D: score=4 STRING: ENSP00000252622
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS9284931
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport IEA--


    RAB7L1 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 RAB7L1
    Search CenterWatch for drugs/clinical trials and news about RAB7L1 / RAB7L 

    (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, 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 RAB7L1 gene (4 alternative transcripts): 
    NM_001135662.1  NM_001135663.1  NM_001135664.1  NM_003929.2  

    Unigene Cluster for RAB7L1:

    RAB7, member RAS oncogene family-like 1
    Hs.115325  [show with all ESTs]
    Unigene Representative Sequence: NM_001135663
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367139(uc001hdf.4 uc009xbp.3 uc001hde.4 uc010prr.2 uc009xbq.3)
    ENST00000235932 ENST00000528078 ENST00000437324 ENST00000446390 ENST00000468887
    ENST00000414729 ENST00000492534 ENST00000533111

    miRNA
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    hsa-miR-26a-2* hsa-miR-607 hsa-miR-181a-2* hsa-miR-374c hsa-miR-3122 hsa-miR-124 hsa-miR-654-5p hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidRAB7L1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK223514.1 AK303879.1 AK308359.1 AK311085.1 AK313000.1 BC002585.2 BT019540.1 BX647960.1 
    CR542010.1 D84488.1 

    15 DOTS entries:

    DT.91917723  DT.100719882  DT.121339746  DT.121339738  DT.95278242  DT.92432170  DT.86794137  DT.100022904 
    DT.101984020  DT.121339756  DT.121339739  DT.87012880  DT.95144249  DT.99989543  DT.100751849 

    24/147 AceView cDNA sequences (see all 147):

    BE326920 AW028502 BG685291 BX642353 BF063786 CR542010 BE315408 BM561547 
    AI801856 BE221777 CF528995 BG757213 CA950844 BE501959 BE464327 AL531102 
    AW582760 BQ004276 AW629075 AW328027 AI474127 BU594328 BE744536 AI302587 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for RAB7L1 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f
    SP1:                                            -     -                                         -     -                                                   
    SP2:                                -     -     -     -                                         -     -                                                   
    SP3:                          -     -     -     -     -     -                                   -     -                                                   
    SP4:                                -     -     -     -     -                                   -     -                                                   
    SP5:                                            -     -     -                                   -     -                                                   


    ECgene alternative splicing isoforms for RAB7L1

    (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

    RAB7L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RAB7L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB7L1

    SOURCE GeneReport for Unigene cluster: Hs.115325

    UniProtKB/Swiss-Prot: RAB7L_HUMAN, O14966
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
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    (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 chordates.

    Orthologs for RAB7L1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAB7L11 RAB7, member RAS oncogene family-like 1 75.53(n)
    79.8(a)
      419836  XM_417967.2  XP_417967.2 
    lizard
    (Anolis carolinensis)
    Reptilia RAB7L16
    --
    76(a)
    1 ↔ 1
    GL343228.1(644215-666202)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.321952 Xenopus laevis transcribed sequence with moderate similarity more 71.65(n)    CA792690.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab32b6
    RAB32b, member RAS oncogene family
    35(a)
    1 ↔ 1
    17(7206753-7213104)


    ENSEMBL Gene Tree for RAB7L1 (if available)
    TreeFam Gene Tree for RAB7L1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB7L1 gene
    RAB9A2  RAB7A2  RAB9B2  RAB322  RAB382  
    18/65 SIMAP similar genes for RAB7L1 using alignment to 3 protein entries:     RAB7L_HUMAN (see all proteins) (see all similar genes):
    RAB38    RAB32    RAB8B    RAB43    RAB7A    RAB27B
    RAB3C    RAB28    RAB15    RAB27A    RAB35    RAB6A
    RAB13    RAB19    RAB23    RAB30    RAB11A    RAB5C

    RAB7L1 for paralogs           About GeneDecksing



    (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

    10/166 NCBI SNPs in RAB7L1 are shown (see all 166    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1996594501,2
    --205736661(+) CATGT-/AATCCAT 4 -- int10--------
    rs17721521,2
    C,F,A,H--205736662(+) CATGTA/AA    
       
    /T/TC
    CCATC
    4 -- int15MN NS EA WA 476
    rs776116921,2
    C,--205736662(+) CATGTA/TCCATC 4 -- int13Minor allele frequency- T:0.31NA WA EA 240
    rs16189361,2
    C,F,A,--205736663(-) TGATGT/GAACAT 4 -- int16Minor allele frequency- G:0.18MN NA WA EA 428
    rs66619161,2
    C,F,A,--205736674(+) AGTACT/CGAATT 4 -- int13Minor allele frequency- C:0.06CSA WA 122
    rs759252641,2
    --205736763(+) AAGAAA/GGTATT 4 -- int10--------
    rs1919283681,2
    --205737040(+) ATTTCC/TGCAAT 4 -- int10--------
    rs1462386251,2
    --205737082(+) TGACAA/TACTCA 4 -- int10--------
    rs120645761,2
    C,H,--205737180(+) CAATTA/GTCTCT 4 -- ut315Minor allele frequency- G:0.00NS EA WA 534
    rs8440051,2
    C,F,A,H,--205737450(+) CAGAAC/TATATA 4 -- ut31 ese317Minor allele frequency- T:0.21NS EA NA WA CSA 796

    HapMap Linkage Disequilibrium report for RAB7L1 (205737114 - 205744610 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RAB7L1: --
    Human Gene Mutation Database (HGMD): RAB7L1

    SABiosciences Cancer Mutation PCR Assays
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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

    RAB7L1 for disorders           About GeneDecksing

    OMIM gene information: 603949    OMIM disorders: --

    3 diseases for RAB7L1:    About MalaCards
    typhoid fever    parkinson's disease    cholesterol

    Human Genome Epidemiology (HuGE) Navigator: RAB7L1 (1 document)

    Export disorders for RAB7L1 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)
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    PubMed articles for RAB7L1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with RAB7L1)
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    1. Cloning and chromosome assignment to 1q32 of a human cDNA (RAB7L1) encoding a small GTP-binding protein, a member of the RAS superfamily. (PubMed id 9284931)1, 2, 3, 9 Shimizu F.... Takahashi E. (1997)
    2. 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)
    3. Association of sequence alterations in the putative pr omoter of RAB7L1 with a reduced parkinson disease risk. (PubMed id 22232350)1 Gan-Or Z....Orr-Urtreger A. (2012)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Genetic variants in the RAB7L1 and SLC41A1 genes of th e PARK16 locus in Chinese Parkinson's disease patients. (PubMed id 21812739)1 Yan Y....Zhang B. (2011)
    6. Genetic variability at the PARK16 locus. (PubMed id 20683486)1 Tucci A....PaisA!n-Ruiz C. (2010)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. Genome-wide association study identifies common varia nts at four loci as genetic risk factors for Parkinson's disease. (PubMed id 19915576)1 Satake W....Toda T. (2009)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8934 HGNC: 9789 AceView: RAB7L1 Ensembl:ENSG00000117280 euGenes: HUgn8934
    ECgene: RAB7L1 H-InvDB: RAB7L1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RAB7L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB7L1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAB7L1 gene:
    Search GeneIP for patents involving RAB7L1

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