Human Gene RHEBL1 (ENST00000301068.11_7) from GENCODE V47lift37
  Description: RHEB like 1, transcript variant 1 (from RefSeq NM_144593.3)
Gencode Transcript: ENST00000301068.11_7
Gencode Gene: ENSG00000167550.11_17
Transcript (Including UTRs)
   Position: hg19 chr12:49,458,459-49,463,762 Size: 5,304 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr12:49,458,886-49,463,568 Size: 4,683 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:49,458,459-49,463,762)mRNA (may differ from genome)Protein (183 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: REBL1_HUMAN
DESCRIPTION: RecName: Full=GTPase RhebL1; AltName: Full=Ras homolog enriched in brain like-1 c; Short=RhebL1c; AltName: Full=Ras homolog enriched in brain-like protein 1; Short=Rheb-like protein 1; AltName: Full=Rheb2; Flags: Precursor;
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.
SUBUNIT: Interacts with MTOR.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Cytoplasm.
TISSUE SPECIFICITY: Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines.
SIMILARITY: Belongs to the small GTPase superfamily. Rheb family.
SEQUENCE CAUTION: Sequence=AAS80166.1; Type=Erroneous translation; Note=Wrong choice of CDS;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RHEBL1
Diseases sorted by gene-association score: renal clear cell carcinoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.53 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 55.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.80194-0.375 Picture PostScript Text
3' UTR -164.20427-0.385 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR020849 - Small_GTPase_Ras

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF08477 - Ras of Complex, Roc, domain of DAPkinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3OES - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8TAI7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0046872 metal ion binding

Biological Process:
GO:0007165 signal transduction
GO:0031929 TOR signaling
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Cellular Component:
GO:0005737 cytoplasm
GO:0012505 endomembrane system
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF210437 - JP 2014500723-A/17940: Polycomb-Associated Non-Coding RNAs.
AK098663 - Homo sapiens cDNA FLJ25797 fis, clone TST07046.
LF337904 - JP 2014500723-A/145407: Polycomb-Associated Non-Coding RNAs.
BC027482 - Homo sapiens Ras homolog enriched in brain like 1, mRNA (cDNA clone MGC:34869 IMAGE:4396827), complete cds.
AY509932 - Homo sapiens RHEBL1c (RHEBL1) mRNA, complete cds.
AY327412 - Homo sapiens Ras homolog enriched in brain-like 1 (RHEBL1) mRNA, complete cds.
BC014155 - Homo sapiens Ras homolog enriched in brain like 1, mRNA (cDNA clone IMAGE:4330877), complete cds.
JD372717 - Sequence 353741 from Patent EP1572962.
LF337905 - JP 2014500723-A/145408: Polycomb-Associated Non-Coding RNAs.
JD327533 - Sequence 308557 from Patent EP1572962.
JD469845 - Sequence 450869 from Patent EP1572962.
JD276260 - Sequence 257284 from Patent EP1572962.
AB527921 - Synthetic construct DNA, clone: pF1KB0951, Homo sapiens RHEBL1 gene for GTPase RhebL1 Precursor, without stop codon, in Flexi system.
LF337907 - JP 2014500723-A/145410: Polycomb-Associated Non-Coding RNAs.
LF337912 - JP 2014500723-A/145415: Polycomb-Associated Non-Coding RNAs.
LF337915 - JP 2014500723-A/145418: Polycomb-Associated Non-Coding RNAs.
JD371835 - Sequence 352859 from Patent EP1572962.
LF337916 - JP 2014500723-A/145419: Polycomb-Associated Non-Coding RNAs.
JD301040 - Sequence 282064 from Patent EP1572962.
JD501599 - Sequence 482623 from Patent EP1572962.
MA446014 - JP 2018138019-A/17940: Polycomb-Associated Non-Coding RNAs.
MA573481 - JP 2018138019-A/145407: Polycomb-Associated Non-Coding RNAs.
MA573482 - JP 2018138019-A/145408: Polycomb-Associated Non-Coding RNAs.
MA573484 - JP 2018138019-A/145410: Polycomb-Associated Non-Coding RNAs.
MA573489 - JP 2018138019-A/145415: Polycomb-Associated Non-Coding RNAs.
MA573492 - JP 2018138019-A/145418: Polycomb-Associated Non-Coding RNAs.
MA573493 - JP 2018138019-A/145419: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000301068.1, ENST00000301068.10, ENST00000301068.2, ENST00000301068.3, ENST00000301068.4, ENST00000301068.5, ENST00000301068.6, ENST00000301068.7, ENST00000301068.8, ENST00000301068.9, NM_144593, Q56VH8, Q8TAI7, REBL1_HUMAN, uc317msp.1, uc317msp.2
UCSC ID: ENST00000301068.11_7
RefSeq Accession: NM_144593.3
Protein: Q8TAI7 (aka REBL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.