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

RHEBL1 Gene

protein-coding   GIFtS: 49
GCID: GC12M049458

Ras homolog enriched in brain like 1
 Explore 5 diseases affiliated with
RHEBL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RHEBL1    

Aliases
for RHEBL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ras Homolog Enriched In Brain Like 11 2     RHEBL1c2
Ras Homolog Enriched In Brain Like-1 C2 3     GTPase RhebL12
Ras Homolog Enriched In Brain-Like Protein 12 3     Ras Homolog Enriched In Brain Like 1 C2
Rheb-Like Protein 12 3     Rheb23
FLJ257971     Rheb23
MGC348691     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


Summaries
for RHEBL1 gene

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




Genomic Views
for RHEBL1 gene

(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_000012.11  NC_018923.1  NT_029419.12  
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 plasmid: RHEBL1 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

Proteins
for RHEBL1 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TAI7

    • RHEBL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_653194.1  
    ENSEMBL proteins: 
     ENSP00000301068   ENSP00000409818   ENSP00000446726   ENSP00000447428  

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    Novus Biologicals RHEBL1 Proteins
    Novus Biologicals RHEBL1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RHEBL1

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

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


    RHEBL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RHEBL1

    Protein Domains /
    Families
    for RHEBL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RHEBL1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR020849 Small_GTPase_Ras

    Graphical View of Domain Structure for InterPro Entry Q8TAI7

    ProtoNet protein and cluster: Q8TAI7

    2 Blocks protein families:
    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


    Function
    for RHEBL1 gene

    (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:

         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

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate RHEBL1 (see all 11):
    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
    SwitchGear 3'UTR luciferase reporter plasmid: RHEBL1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


    Animal Models:
         Mouse knock-out Rhebl1tm1.1Pfw for RHEBL1
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rhebl1):
     mortality/aging  no phenotypic analysis  normal 

    RHEBL1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RHEBL1 gene

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0031929TOR signaling cascade IMP12869548
    GO:0051092positive regulation of NF-kappaB transcription factor activity IDA16328882


    RHEBL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RHEBL1 gene

    (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 RHEBL1

    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 

    Transcripts
    for RHEBL1 gene

    (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 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
    SwitchGear 3'UTR luciferase reporter plasmid: RHEBL1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RHEBL1 (see all 7)
    OriGene shRNA RFP: RHEBL1
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHEBL1
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    Additional cDNA 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:

    NM_144593 CR612990 AY327412 BC014155 AK098663 BC027482 

    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

    Expression
    for RHEBL1 gene

    (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
    CGAP TAG: GACACTGGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    Assay Products:     
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    Orthologs
    for RHEBL1 gene

    (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 RHEBL1 gene from 2/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia RHEBL16
    		 --
    		 71(a)
    		 1 ↔ 1
    		 GL343198.1(2755294-2759314)
    worm
    (Caenorhabditis elegans)    		 Secernentea rheb-16
    		 GTP-binding protein Rheb homolog 1
    		 31(a)
    		 1 ↔ 1
    		 III(9454260-9455948)


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

    Paralogs
    for RHEBL1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHEBL1 gene
    RHEB2  
    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    RASD1    c-bas/has    RIT2    RAB13    RAB21

    RHEBL1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RHEBL1
    PGOHUM00000261096 PGOHUM00000263248


    Genomic Variants
    for RHEBL1 gene

    (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

    10/101 NCBI SNPs in RHEBL1 are shown (see all 101)     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--------
    rs1152574331,2
    		F,--49459394(+) CAACAC/TAGGGA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1807523851,2
    		--49459425(+) AAAAAA/TGGGCC 1 -- int10--------
    rs1865189091,2
    		--49459437(+) CACGCA/GGTTGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for RHEBL1 (49458468 - 49463808 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for RHEBL1
         2 CNVs: 58575 4777

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    Disorders / Diseases
    for RHEBL1 gene

    (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
    RHEBL1 for disorders           About GeneDecksing

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

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

    Export disorders for RHEBL1 gene to outside databases

    Publications
    for RHEBL1 gene

    (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 RHEBL1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with RHEBL1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. Activation of the mTOR signaling pathway in renal clear cell carcinoma. (PubMed id 17162089)2 Robb V.A.... Henske E.P. (2007)
    7. 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)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    9. High-throughput mapping of a dynamic signaling network in mammalian cells. (PubMed id 15761153)1 Barrios-Rodiles M....Wrana J.L. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

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

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