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Aliases for RHEBL1 Gene

Aliases for RHEBL1 Gene

  • Ras Homolog Enriched In Brain Like 1 2 3
  • Ras Homolog Enriched In Brain-Like Protein 1 3 4
  • Ras Homolog Enriched In Brain Like-1 C 3 4
  • Rheb-Like Protein 1 3 4
  • RHEBL1c 3 4
  • RHEB2 3 4
  • Ras Homolog Enriched In Brain Like 1 C 3

External Ids for RHEBL1 Gene

Previous GeneCards Identifiers for RHEBL1 Gene

  • GC12M049175
  • GC12M047744
  • GC12M049458
  • GC12M046490

Summaries for RHEBL1 Gene

GeneCards Summary for RHEBL1 Gene

RHEBL1 (Ras Homolog Enriched In Brain Like 1) is a Protein Coding gene. Diseases associated with RHEBL1 include renal clear cell carcinoma. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RASL12.

UniProtKB/Swiss-Prot for RHEBL1 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHEBL1 Gene

Genomics for RHEBL1 Gene

Regulatory Elements for RHEBL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RHEBL1 Gene

Chromosome:
12
Start:
49,064,676 bp from pter
End:
49,070,025 bp from pter
Size:
5,350 bases
Orientation:
Minus strand

Genomic View for RHEBL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHEBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHEBL1 Gene

Proteins for RHEBL1 Gene

  • Protein details for RHEBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAI7-REBL1_HUMAN
    Recommended name:
    GTPase RhebL1
    Protein Accession:
    Q8TAI7
    Secondary Accessions:
    • Q56VH8

    Protein attributes for RHEBL1 Gene

    Size:
    183 amino acids
    Molecular mass:
    20682 Da
    Quaternary structure:
    • Interacts with MTOR.
    SequenceCaution:
    • Sequence=AAS80166.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RHEBL1 Gene

    Alternative splice isoforms for RHEBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHEBL1 Gene

Proteomics data for RHEBL1 Gene at MOPED

Post-translational modifications for RHEBL1 Gene

  • Ubiquitination at Lys 162
  • Modification sites at PhosphoSitePlus

Other Protein References for RHEBL1 Gene

No data available for DME Specific Peptides for RHEBL1 Gene

Domains & Families for RHEBL1 Gene

Gene Families for RHEBL1 Gene

Suggested Antigen Peptide Sequences for RHEBL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAI7

UniProtKB/Swiss-Prot:

REBL1_HUMAN :
  • Belongs to the small GTPase superfamily. Rheb family.
Family:
  • Belongs to the small GTPase superfamily. Rheb family.
genes like me logo Genes that share domains with RHEBL1: view

Function for RHEBL1 Gene

Molecular function for RHEBL1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for RHEBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IDA 12869548
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RHEBL1: view

Phenotypes for RHEBL1 Gene

genes like me logo Genes that share phenotypes with RHEBL1: view

Animal Models for RHEBL1 Gene

MGI Knock Outs for RHEBL1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RHEBL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RHEBL1 Gene

Localization for RHEBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHEBL1 Gene

Endomembrane system; Lipid-anchor; Cytoplasmic side. Cytoplasm.

Gene Ontology (GO) - Cellular Components for RHEBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm IDA 16328882
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RHEBL1: view

No data available for Subcellular locations from COMPARTMENTS for RHEBL1 Gene

Pathways & Interactions for RHEBL1 Gene

SuperPathways for RHEBL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHEBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0015031 protein transport --
GO:0031929 TOR signaling IMP 12869548
GO:0051092 positive regulation of NF-kappaB transcription factor activity IDA 16328882
genes like me logo Genes that share ontologies with RHEBL1: view

No data available for Pathways by source and SIGNOR curated interactions for RHEBL1 Gene

Drugs & Compounds for RHEBL1 Gene

(1) Drugs for RHEBL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RHEBL1: view

Transcripts for RHEBL1 Gene

mRNA/cDNA for RHEBL1 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RHEBL1 Gene

Ras homolog enriched in brain like 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RHEBL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHEBL1 Gene

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

Relevant External Links for RHEBL1 Gene

GeneLoc Exon Structure for
RHEBL1
ECgene alternative splicing isoforms for
RHEBL1

Expression for RHEBL1 Gene

mRNA expression in normal human tissues for RHEBL1 Gene

mRNA differential expression in normal tissues according to GTEx for RHEBL1 Gene

This gene is overexpressed in Brain - Cortex (x4.8) and Brain - Frontal Cortex (BA9) (x4.4).

Protein differential expression in normal tissues from HIPED for RHEBL1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHEBL1 Gene



SOURCE GeneReport for Unigene cluster for RHEBL1 Gene Hs.159013

mRNA Expression by UniProt/SwissProt for RHEBL1 Gene

Q8TAI7-REBL1_HUMAN
Tissue specificity: Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines.
genes like me logo Genes that share expression patterns with RHEBL1: view

Protein tissue co-expression partners for RHEBL1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RHEBL1 Gene

Orthologs for RHEBL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RHEBL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RHEBL1 35
  • 90.06 (n)
  • 91.71 (a)
RHEBL1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHEBL1 35
  • 91.99 (n)
  • 96.17 (a)
RHEBL1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhebl1 35
  • 88.71 (n)
  • 88.52 (a)
Rhebl1 16
Rhebl1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RHEBL1 35
  • 99.27 (n)
  • 99.45 (a)
RHEBL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhebl1 35
  • 89.07 (n)
  • 86.89 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia RHEBL1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHEBL1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhebl1 35
  • 59.74 (n)
  • 55.19 (a)
zebrafish
(Danio rerio)
Actinopterygii rhebl1 36
  • 55 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Rheb 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rheb-1 36
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RHB1 36
  • 35 (a)
OneToMany
Species with no ortholog for RHEBL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHEBL1 Gene

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

Paralogs for RHEBL1 Gene

Paralogs for RHEBL1 Gene

Pseudogenes.org Pseudogenes for RHEBL1 Gene

genes like me logo Genes that share paralogs with RHEBL1: view

Variants for RHEBL1 Gene

Sequence variations from dbSNP and Humsavar for RHEBL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs4018209 -- 49,067,286(+) ttttt(G/T)gagat intron-variant
rs5798088 -- 49,069,497(-) AATCT(-/CA)GAGTG intron-variant
rs7969091 -- 49,070,666(+) TGTAG(A/G)AGATG upstream-variant-2KB
rs10715716 -- 49,067,100(+) CTGAC(-/T)TTTTT intron-variant
rs11168840 -- 49,064,509(+) aaaat(A/T)aaaaa downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for RHEBL1 Gene

Variant ID Type Subtype PubMed ID
nsv832404 CNV Gain 17160897
nsv819798 CNV Loss 19587683

Variation tolerance for RHEBL1 Gene

Residual Variation Intolerance Score: 39.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 5.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RHEBL1 Gene

HapMap Linkage Disequilibrium report
RHEBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHEBL1 Gene

Disorders for RHEBL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RHEBL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
renal clear cell carcinoma
  • clear cell adenocarcinoma
- elite association

Relevant External Links for RHEBL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHEBL1
genes like me logo Genes that share disorders with RHEBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHEBL1 Gene

Publications for RHEBL1 Gene

  1. Frequent [corrected] hyperphosphorylation of ribosomal protein S6 [corrected] in lymphangioleiomyomatosis-associated angiomyolipomas. (PMID: 16575396) Robb V.A. … Henske E.P. (Mod. Pathol. 2006) 23 67
  2. Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1. (PMID: 16098514) Tee A.R. … Proud C.G. (FEBS Lett. 2005) 23 67
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 67
  4. 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. (PMID: 25422319) Sato T. … Hattori S. (J. Biol. Chem. 2015) 67
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67

Products for RHEBL1 Gene

Sources for RHEBL1 Gene

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