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

RHEBL1 Gene

protein-coding   GIFtS: 48
GCID: GC12M049458

Ras Homolog Enriched In Brain Like 1

  See related diseases
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
Ras Homolog Enriched In Brain Like 11 2     GTPase RhebL12
Ras Homolog Enriched In Brain Like-1 C2 3     Ras Homolog Enriched In Brain Like 1 C2
Ras Homolog Enriched In Brain-Like Protein 12 3     rheb22
Rheb-Like Protein 12 3     Rheb23
RHEBL1c2     RhebL1c3

External Ids:    HGNC: 211661   Entrez Gene: 1212682   Ensembl: ENSG000001675507   UniProtKB: Q8TAI73   

Export aliases for RHEBL1 gene to outside databases

Previous GC identifers: GC12M049175 GC12M047744 GC12M046490


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

GeneCards Summary for RHEBL1 Gene: 
RHEBL1 (Ras homolog enriched in brain like 1) is a protein-coding gene. Diseases associated with RHEBL1 include lymphangioleiomyomatosis, and angiomyolipoma. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RASL12.

UniProtKB/Swiss-Prot: REBL1_HUMAN, Q8TAI7
Function: Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription.
Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small
GTPase-activating proteins TSC1 and TSC2




(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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHEBL1 gene promoter:
         POU3F1   XBP-1   Roaz   PPAR-gamma1   E2F   E2F-1   FOXO1a   STAT3   PPAR-gamma2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHEBL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RHEBL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHEBL1


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

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.12

RHEBL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHEBL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049458:  view genomic region     (about GC identifiers)

Start:
49,458,468 bp from pter      End:
49,463,808 bp from pter
Size:
5,341 bases      Orientation:
minus strand

(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: REBL1_HUMAN, Q8TAI7 (See protein sequence)
Recommended Name: GTPase RhebL1 precursor  
Size: 183 amino acids; 20682 Da
Subunit: Interacts with MTOR
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Cytoplasm
Sequence caution: Sequence=AAS80166.1; Type=Erroneous translation; Note=Wrong choice of CDS;
1 PDB 3D structure from and Proteopedia for RHEBL1:
3OES (3D)    
Secondary accessions: Q56VH8
Alternative splicing: 2 isoforms:  Q8TAI7-1   Q8TAI7-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for RHEBL1: NX_Q8TAI7

Explore proteomics data for RHEBL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TAI7

  • RHEBL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RHEBL1 Protein Expression
    REFSEQ proteins: NP_653194.1  
    ENSEMBL proteins: 
     ENSP00000301068   ENSP00000409818   ENSP00000446726   ENSP00000447428  

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    Cloud-Clone Corp. Proteins for RHEBL1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA16328882
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----

    RHEBL1 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
    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR027417 P-loop_NTPase
     IPR020849 Small_GTPase_Ras

    Graphical View of Domain Structure for InterPro Entry Q8TAI7

    ProtoNet protein and cluster: Q8TAI7

    2 Blocks protein domains:
    IPB001806 Transforming protein P21 RAS signature
    IPB003577 Ras small GTPase


    UniProtKB/Swiss-Prot: REBL1_HUMAN, Q8TAI7
    Similarity: Belongs to the small GTPase superfamily. Rheb family


    RHEBL1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: REBL1_HUMAN, Q8TAI7
    Function: Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription.
    Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small
    GTPase-activating proteins TSC1 and TSC2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005525GTP binding IDA12869548
         
    RHEBL1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rhebl1):
     mortality/aging  no phenotypic analysis  normal 

    RHEBL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rhebl1tm1.1Pfw for RHEBL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RHEBL1 
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    SwitchGear 3'UTR luciferase reporter plasmidRHEBL1 3' UTR sequence
    Inhib. RNA
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    (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 RHEBL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/14 Interacting proteins for RHEBL1 (Q8TAI72, 3 ENSP000003010684) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTORP423452, 3, ENSP000003545584MINT-62561 I2D: score=3 STRING: ENSP00000354558
    ACVR1Q047713, ENSP000002636404I2D: score=3 STRING: ENSP00000263640
    SMAD2Q157963, ENSP000002621604I2D: score=3 STRING: ENSP00000262160
    TXNL4AP838763, ENSP000002696014I2D: score=3 STRING: ENSP00000269601
    EIF4EBP1Q135413, ENSP000003406914I2D: score=1 STRING: ENSP00000340691
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport ----
    GO:0031929TOR signaling cascade IMP12869548

    RHEBL1 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 RHEBL1 (REBL1)

    1 HMDB Compound for RHEBL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about RHEBL1 / REBL1

    (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 RHEBL1 gene: 
    NM_144593.1  

    Unigene Cluster for RHEBL1:

    Ras homolog enriched in brain like 1
    Hs.159013  [show with all ESTs]
    Unigene Representative Sequence: AY509932
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301068(uc001rtc.1 uc009zlc.1) ENST00000420065 ENST00000550797(uc001rtd.1)
    ENST00000550675
    miRNA
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    hsa-miR-30c hsa-miR-448 hsa-miR-502-5p hsa-miR-30d hsa-miR-544b hsa-miR-30a hsa-miR-19b hsa-miR-30b
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK098663.1 AY327412.1 AY509932.1 BC014155.2 BC027482.1 

    6 DOTS entries:

    DT.75114459  DT.100021568  DT.101980850  DT.101980851  DT.102826806  DT.92017333 

    6 AceView cDNA sequences:

    CR612990 NM_144593 BC014155 BC027482 AY327412 AK098663 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for RHEBL1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
    SP1:                                                                  
    SP2:              -                                                   
    SP3:              -           -                                       


    ECgene alternative splicing isoforms for RHEBL1

    (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

    RHEBL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACACTGGCC
    RHEBL1 Expression
    About this image


    See RHEBL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHEBL1

    SOURCE GeneReport for Unigene cluster: Hs.159013

    UniProtKB/Swiss-Prot: REBL1_HUMAN, Q8TAI7
    Tissue specificity: Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines

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    In Situ
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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 animals and fungi.

    Orthologs for RHEBL1 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhebl11 , 5 Ras homolog enriched in brain like 11, 5 88.71(n)1
    88.52(a)1
      15 (54.99 cM)5
    691591  NM_026967.41  NP_081243.11 
     988777785 
    lizard
    (Anolis carolinensis)
    Reptilia RHEBL16
    Uncharacterized protein
    73(a)
    1 ↔ 1
    GL343198.1(2745085-2759314)
    fruit fly
    (Drosophila melanogaster)
    Insecta Rheb6
    Rheb
    48(a)
    1 → many
    3R(1394618-1396213)
    worm
    (Caenorhabditis elegans)
    Secernentea rheb-16
    GTP-binding protein Rheb homolog 1
    32(a)
    1 → many
    III(9454344-9456032)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RHB16
    Putative Rheb-related GTPase involved in regulatin...
    35(a)
    1 → many
    III(167370-167999)


    ENSEMBL Gene Tree for RHEBL1 (if available)
    TreeFam Gene Tree for RHEBL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHEBL1 gene
    RASL122  RASL11A2  RERGL2  RHEB2  RASL11B2  RERG2  
    18/70 SIMAP similar genes for RHEBL1 using alignment to 4 protein entries:     REBL1_HUMAN (see all proteins) (see all similar genes):
    RHEB    DIRAS2    HRAS    RAP1B    KRAS    NRAS
    RAP2A    DKFZp547A0616    RALA    RAP2B    RAP2C    DIRAS1
    RAP1A    c-bas/has    RIT2    RAB13    RAB21    RAB30

    RHEBL1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RHEBL1
    PGOHUM00000261096 PGOHUM00000263248


    (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

    10/131 SNPs in RHEBL1 are shown (see all 131)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1923166261,2
    --49458116(+) AAAAAA/GAGATC 1 -- int10--------
    rs111688411,2
    --49458377(+) tgcagC/Tgagcc 1 -- int10--------
    rs1403780751,2
    --49458449(+) CACACA/GAAAAA 1 -- int10--------
    rs1445152521,2
    C--49458601(+) TAATG-/CCCAGG 1 -- ut310--------
    rs1837095121,2
    --49458755(+) AGGATA/GCCACA 1 -- ut310--------
    rs1880252031,2
    --49458772(+) GTCCAA/GGGGCC 1 -- ut310--------
    rs1997614631,2
    --49458848(+) GTGCCA/GGGGGC 1 -- ut310--------
    rs2014965961,2
    C--49459167(+) ATGTCG/ACACCC 2 /A /V mis11Minor allele frequency- A:0.00EU 1323
    rs1152574331,2
    F--49459394(+) CAACAC/TAGGGA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1807523851,2
    C--49459425(+) AAAAAA/TGGGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for RHEBL1 (49458468 - 49463808 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RHEBL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv819798CNV Loss19587683
    nsv832404CNV Gain17160897

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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
    4 diseases for RHEBL1:    About MalaCards
    lymphangioleiomyomatosis    angiomyolipoma    renal clear cell carcinoma    tuberous sclerosis

    2 diseases from the University of Copenhagen DISEASES database for RHEBL1:
    Renal clear cell carcinoma     Lymphangioleiomyomatosis

    RHEBL1 for disorders           About GeneDecksing


    Export disorders for RHEBL1 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 RHEBL1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with RHEBL1)
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    1. Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1. (PubMed id 16098514)1, 2, 9 Tee A.R....Proud C.G. (2005)
    2. Identification and characterization of RHEBL1, a novel member of Ras family, which activates transcriptional activities of NF-kappa B. (PubMed id 16328882)1, 2 Yuan J....Yu L. (2005)
    3. Identification of dominant negative mutants of Rheb GTPase and their use to implicate the involvement of human Rheb in the activation of p70S6K. (PubMed id 12869548)1, 2 Tabancay A.P. Jr.... Tamanoi F. (2003)
    4. 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)
    5. Effects of RhebL1 silencing on the mTOR pathway. (PubMed id 21655954)1 Bonneau A. and Parmar N. (2012)
    6. Interactome mapping of the phosphatidylinositol 3-kin ase-mammalian target of rapamycin pathway identifies deformed epidermal autoreg ulatory factor-1 as a new glycogen synthase kinase-3 interactor. (PubMed id 20368287)1 Pilot-Storck F....Goillot E. (2010)
    7. Activation of the mTOR signaling pathway in renal clear cell carcinoma. (PubMed id 17162089)2 Robb V.A.... Henske E.P. (2007)
    8. The farnesyl transferase inhibitor (FTI) SCH66336 (lonafarnib) inhibits Rheb farnesylation and mTOR signaling. Role in FTI enhancement of taxane and tamoxifen anti-tumor activity. (PubMed id 16006564)2 Basso A.D.... Kirschmeier P. (2005)
    9. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    10. High-throughput mapping of a dynamic signaling network in mammalian cells. (PubMed id 15761153)1 Barrios-Rodiles M....Wrana J.L. (2005)

    (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: 121268 HGNC: 21166 AceView: RHEBL1 Ensembl:ENSG00000167550 euGenes: HUgn121268
    ECgene: RHEBL1 H-InvDB: RHEBL1

    (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 RHEBL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RHEBL1 gene:
    Search GeneIP for patents involving RHEBL1

    GeneCards and IP:
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