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

RABL5 Gene

protein-coding   GIFtS: 44
GCID: GC07M100956

RAB, Member RAS Oncogene Family-Like 5

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RAB, Member RAS Oncogene Family-Like 51 2
RAB, Member Of RAS Oncogene Family-Like 52
Rab-Like Protein 52

External Ids:    HGNC: 218951   Entrez Gene: 647922   Ensembl: ENSG000001285817   UniProtKB: Q9H7X73   

Export aliases for RABL5 gene to outside databases

Previous GC identifers: GC07M100516 GC07M100550 GC07M100743 GC07M095549


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

GeneCards Summary for RABL5 Gene: 
RABL5 (RAB, member RAS oncogene family-like 5) is a protein-coding gene. Diseases associated with RABL5 include choroiditis. GO annotations related to this gene include GTP binding.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RABL5 gene promoter:
         Nkx3-1 v2   Nkx3-1 v4   POU2F1   AML1a   POU2F1a   Nkx3-1 v3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRABL5 promoter sequence
   Search SABiosciences Chromatin IP Primers for RABL5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RABL5


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

RABL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RABL5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M100956:  view genomic region     (about GC identifiers)

Start:
100,956,648 bp from pter      End:
100,965,104 bp from pter
Size:
8,457 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 100,315,035-100,323,480     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RABL5_HUMAN, Q9H7X7 (See protein sequence)
Recommended Name: Rab-like protein 5  
Size: 185 amino acids; 20835 Da
Secondary accessions: Q49AG1 Q69YV5 Q9BSW4
Alternative splicing: 3 isoforms:  Q9H7X7-1   Q9H7X7-2   Q9H7X7-3   

Explore the universe of human proteins at neXtProt for RABL5: NX_Q9H7X7

Explore proteomics data for RABL5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H7X7

  • RABL5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RABL5 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001124292.1  NP_001124293.1  NP_001124294.1  NP_073614.1  

    ENSEMBL proteins: 
     ENSP00000392087   ENSP00000429202   ENSP00000320359   ENSP00000429648   ENSP00000390770  
     ENSP00000389170  

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    Cloud-Clone Corp. Proteins for RABL5 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----

    RABL5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001806 Small_GTPase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9H7X7

    ProtoNet protein and cluster: Q9H7X7

    UniProtKB/Swiss-Prot: RABL5_HUMAN, Q9H7X7
    Similarity: Belongs to the small GTPase superfamily. Rab family


    RABL5 for domains           About GeneDecksing


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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
         
    RABL5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RABL5:
     Proliferating cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RABL5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RABL5 
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    hsa-miR-1290 hsa-miR-514b-5p hsa-miR-513c
    SwitchGear 3'UTR luciferase reporter plasmidRABL5 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABL5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RABL5

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

    1 Interacting protein for RABL5 (Q9H7X73 ENSP000003203594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGEB2O154793, ENSP000003682734I2D: score=1 STRING: ENSP00000368273
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--

    RABL5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 RABL5

    Search CenterWatch for drugs/clinical trials and news about RABL5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RABL5 gene (4 alternative transcripts): 
    NM_001130820.1  NM_001130821.1  NM_001130822.1  NM_022777.2  

    Unigene Cluster for RABL5:

    RAB, member RAS oncogene family-like 5
    Hs.389104  [show with all ESTs]
    Unigene Representative Sequence: AL157469
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000422177(uc011kkk.2 uc011kkl.2 uc003uym.3 uc003uyl.3 uc010lhw.3)
    ENST00000517481 ENST00000315322 ENST00000498704 ENST00000440362 ENST00000437644
    ENST00000430911 ENST00000495166 ENST00000468833(uc011kkm.2) ENST00000485695

    miRNA
    Products:
         
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RABL5:
    hsa-miR-1290 hsa-miR-514b-5p hsa-miR-513c
    SwitchGear 3'UTR luciferase reporter plasmidRABL5 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RABL5
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    Additional mRNA sequence: 

    AK023287.1 AK024179.1 AK292254.1 AK294653.1 AK298888.1 AK308684.1 AL157469.1 BC004522.2 
    BC009823.2 BC038668.1 BC050531.1 

    8 DOTS entries:

    DT.433959  DT.100815424  DT.95359963  DT.121051656  DT.95191620  DT.91759922  DT.100035926  DT.40315405 

    24/138 AceView cDNA sequences (see all 138):

    BI915941 BI820817 BP341477 BQ182973 BM931056 AI004788 AI872998 BQ925385 
    CA841889 BM924616 BM684529 AU122163 BE271977 BQ052871 BG120363 AJ709408 
    BQ670065 AJ707429 BQ935441 BU857761 BF965619 BM667883 CR593886 CA407869 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for RABL5 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
    SP1:                                      -           -                       -     -                                             
    SP2:                                -     -           -                       -     -                                             
    SP3:                                -                 -                       -     -                                             
    SP4:                                -     -     -     -                       -     -                                             
    SP5:                                -     -     -     -                       -     -                                             


    ECgene alternative splicing isoforms for RABL5

    (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

    RABL5 expression in normal human tissues (normalized intensities)      RABL5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RABL5 Expression
    About this image


    RABL5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Epithelium (Respiratory System)
             bronchial epithelial cells   

    See RABL5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RABL5

    SOURCE GeneReport for Unigene cluster: Hs.389104
        SABiosciences Custom PCR Arrays for RABL5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABL5

    (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 animals.

    Orthologs for RABL5 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rabl51 , 5 RAB, member of RAS oncogene family-like 51, 5 86.85(n)1
    90.27(a)1
      5 (76.03 cM)5
    672861  NM_026073.31  NP_080349.11 
     1369081505 
    chicken
    (Gallus gallus)
    Aves RABL51 RAB, member RAS oncogene family-like 5 69.55(n)
    68.11(a)
      417503  XM_415752.3  XP_415752.2 
    lizard
    (Anolis carolinensis)
    Reptilia RABL56
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL343613.1(330726-333298)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.45972 Xenopus laevis transcribed sequence with weak similarity more 77.36(n)    48063127 
    zebrafish
    (Danio rerio)
    Actinopterygii rabl51 RAB, member RAS oncogene family-like 5 62.7(n)
    61.08(a)
      550583  NM_001017884.1  NP_001017884.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ifta-26
    Protein IFTA-2
    21(a)
    1 ↔ 1
    IV(17300809-17302033)


    ENSEMBL Gene Tree for RABL5 (if available)
    TreeFam Gene Tree for RABL5 (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, 4UniProtKB, 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

    10/269 SNPs in RABL5 are shown (see all 269)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs126695651,2
    C,H--100956261(+) aggcaC/Tgtgct 4 -- ds50013Minor allele frequency- T:0.17NA WA 6
    rs1865398221,2
    --100956290(+) TTGTAG/TTTTTA 4 -- ds50010--------
    rs1512171461,2
    C--100956395(+) CAGGCA/GTAAGC 4 -- ds50010--------
    rs1909439561,2
    --100956402(+) AAGCCA/GCTGCA 4 -- ds50010--------
    rs1392255181,2
    C--100956531(+) TGTTGA/GCCAGG 4 -- ds50010--------
    rs1148212421,2
    F--100956635(+) CTTCAA/GTTTTT 4 -- ds50011Minor allele frequency- G:0.12WA 118
    rs1435194511,2
    C--100956723(+) CAATT-/CTCCTGCC 4 -- cds10--------
    rs715171631,2
    C--100956725(+) ATTCTCCT/-GCCTC 4 -- cds11Minor allele frequency- -:0.50NA 2
    rs1440928461,2
    --100956786(+) TTTTTG/TTATTT 4 -- ut310--------
    rs360792271,2
    C,F--100956841(+) TCTCTG/TGACCT 4 -- ut314Minor allele frequency- T:0.38NA WA 8

    HapMap Linkage Disequilibrium report for RABL5 (100956648 - 100965104 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for RABL5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669069CNV Deletion23128226
    esv2422376CNV Duplication17116639
    esv2422326CNV Duplication17116639
    nsv831076CNV Loss17160897
    nsv831077CNV Loss17160897
    esv2752134CNV Gain17911159
    dgv236e55CNV Gain17911159
    nsv517175CNV Gain+Loss19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RABL5
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for RABL5:    About MalaCards
    choroiditis    

    1 disease from the University of Copenhagen DISEASES database for RABL5:
    Bardet-Biedl syndrome

    RABL5 for disorders           About GeneDecksing


    Export disorders for RABL5 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 RABL5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RABL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    9. Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107410)1 Wistow G.... Peterson K. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64792 HGNC: 21895 AceView: RABL5 Ensembl:ENSG00000128581 euGenes: HUgn64792
    ECgene: RABL5 H-InvDB: RABL5

    (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 RABL5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RABL5 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 RABL5 gene:
    Search GeneIP for patents involving RABL5

    GeneCards and IP:
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