U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    RHEBL1 RHEB like 1 [ Homo sapiens (human) ]

    Gene ID: 121268, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    RHEBL1provided by HGNC
    Official Full Name
    RHEB like 1provided by HGNC
    Primary source
    HGNC:HGNC:21166
    See related
    Ensembl:ENSG00000167550 MIM:618956; AllianceGenome:HGNC:21166
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RHEBL1c
    Summary
    Enables GTP binding activity. Involved in TOR signaling and positive regulation of NF-kappaB transcription factor activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See RHEBL1 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49064676..49069979, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49026849..49032153, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49458459..49463762, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DDN and PRKAG1 antisense RNA 1 Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 1 Neighboring gene Sharpr-MPRA regulatory region 4712 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49411600-49412190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6302 Neighboring gene lysine methyltransferase 2D Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:49442744-49443943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49443977-49444477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4422 Neighboring gene Sharpr-MPRA regulatory region 5975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6307 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49485416-49485598 Neighboring gene uncharacterized LOC105369759 Neighboring gene GATA motif-containing MPRA enhancer 293 Neighboring gene desert hedgehog signaling molecule Neighboring gene limb development membrane protein 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49503799-49504338

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Rheb1 promotes glucose-stimulated insulin secretion in human and mouse β-cells by upregulating GLUT expression. Yang Y, et al. Metabolism, 2021 Oct. PMID 34375645
    2. Effects of RhebL1 silencing on the mTOR pathway. Bonneau A, et al. Mol Biol Rep, 2012 Mar. PMID 21655954
    3. Novel involvement of RhebL1 in sphingosylphosphorylcholine-induced keratin phosphorylation and reorganization: Binding to and activation of AKT1. Kim HJ, et al. Oncotarget, 2017 Mar 28. PMID 28209923, Free PMC Article
    4. Identification and characterization of RHEBL1, a novel member of Ras family, which activates transcriptional activities of NF-kappa B. Yuan J, et al. Mol Biol Rep, 2005 Dec. PMID 16328882
    5. Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) activity. Sato T, et al. J Biol Chem, 2015 Jan 9. PMID 25422319, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rheb1 promotes glucose-stimulated insulin secretion in human and mouse beta-cells by upregulating GLUT expression.
      Title: Rheb1 promotes glucose-stimulated insulin secretion in human and mouse β-cells by upregulating GLUT expression.
    2. High RHEBL1 expression is associated with lung cancer.
      Title: Novel involvement of RhebL1 in sphingosylphosphorylcholine-induced keratin phosphorylation and reorganization: Binding to and activation of AKT1.
    3. These results establish CAD as a downstream effector of Rheb and suggest a possible role of Rheb in regulating de novo pyrimidine nucleotide synthesis.(Rheb small GTPases, which consist of Rheb1 and Rheb2 (also known as RhebL1)
      Title: Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) activity.
    4. Findings are unprecedented and indicate that the DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML.
      Title: DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia.
    5. RhebL1 may be impacting the mTOR pathway in a different manner than Rheb1.
      Title: Effects of RhebL1 silencing on the mTOR pathway.
    6. RHEBL1 is a positive regulator of NF-kappa B-mediated gene transcription.
      Title: Identification and characterization of RHEBL1, a novel member of Ras family, which activates transcriptional activities of NF-kappa B.
    7. Data show that Rheb like-1 protein (RhebL1) rescues mTOR signaling during nutrient withdrawal, and identify critical residues in Rheb and RhebL1 which are required for their efficient activation of mTOR signaling.
      Title: Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ25797, MGC34869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in small GTPase-mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    GTPase RhebL1
    Names
    Ras homolog enriched in brain like 1 c
    ras homolog enriched in brain like-1 c
    ras homolog enriched in brain-like protein 1
    rheb-like protein 1
    rheb2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001303126.2 → NP_001290055.1  GTPase RhebL1 isoform 2

      See identical proteins and their annotated locations for NP_001290055.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end of the coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI917432, AY327412, AY509932
      UniProtKB/Swiss-Prot
      Q8TAI7
      Conserved Domains (1) summary
      cd04137
      Location:16 → 181
      RheB; Ras Homolog Enriched in Brain (RheB) is a small GTPase

    2. NM_144593.3 → NP_653194.1  GTPase RhebL1 isoform 1

      See identical proteins and their annotated locations for NP_653194.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI917432, AY327412
      Consensus CDS
      CCDS8778.1
      UniProtKB/Swiss-Prot
      Q56VH8, Q8TAI7
      Related
      ENSP00000301068.6, ENST00000301068.11
      Conserved Domains (2) summary
      smart00010
      Location:5 → 169
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
      cd04137
      Location:6 → 183
      RheB; Ras Homolog Enriched in Brain (RheB) is a small GTPase

    RNA

    1. NR_130123.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI917432, AY327412, BC014155
      Related
      ENST00000420065.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49064676..49069979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428286.1 → XP_047284242.1  GTPase RhebL1 isoform X3

    2. XM_047428284.1 → XP_047284240.1  GTPase RhebL1 isoform X1

    3. XM_047428285.1 → XP_047284241.1  GTPase RhebL1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49026849..49032153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371068.1 → XP_054227043.1  GTPase RhebL1 isoform X3

    2. XM_054371066.1 → XP_054227041.1  GTPase RhebL1 isoform X1

    3. XM_054371067.1 → XP_054227042.1  GTPase RhebL1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAI7.1 GenPept UniProtKB/Swiss-Prot:Q8TAI7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools