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Aliases for RHEBL1 Gene

Aliases for RHEBL1 Gene

  • RHEB Like 1 2 3
  • Ras Homolog Enriched In Brain-Like Protein 1 3 4
  • Ras Homolog Enriched In Brain Like-1 C 3 4
  • Ras Homolog Enriched In Brain Like 1 2 5
  • Rheb-Like Protein 1 3 4
  • RHEBL1c 3 4
  • RHEB2 3 4
  • Ras Homolog Enriched In Brain Like 1 C 3
  • GTPase RhebL1 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 (RHEB Like 1) is a Protein Coding gene. Diseases associated with RHEBL1 include Renal Clear Cell Carcinoma. Among its related pathways are AMP-activated Protein Kinase (AMPK) Signaling. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RHEB.

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.

Additional gene information for RHEBL1 Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for RHEBL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H049230 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -163.1 -163139 5.5 HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 LMBR1L LOC105369760 KANSL2 TUBA1C KMT2D SMARCD1 TUBA1A CCNT1 PRKAG1 LOC390314
GH12H049127 0.9 ENCODE 12 -57.4 -57408 0.5 HDAC1 PKNOX1 RB1 TBL1XR1 BMI1 FEZF1 ZNF2 EGR1 ZSCAN5C KLF7 RHEBL1 TUBA1A TUBA1C KMT2D LOC105369760 LMBR1L
GH12H049195 0.7 Ensembl dbSUPER 10.5 -125.8 -125777 0.4 IKZF1 ZNF514 LOC390314 ENSG00000257298 PRPF40B SMARCD1 RHEBL1 DDX23 ENSG00000257964 LOC100422296 KANSL2 ENSG00000274017
GH12H049199 0.6 FANTOM5 dbSUPER 10.5 -127.4 -127395 0.1 ZNF316 RHEBL1 PRPF40B ENSG00000274017 ENSG00000258101
GH12H049197 0.5 Ensembl dbSUPER 10.5 -127.7 -127676 0.2 RHEBL1 ENSG00000274017 ENSG00000258101
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHEBL1 on UCSC Golden Path with GeneCards custom track

Promoters for RHEBL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051569 125 1001 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1

Genomic Locations for RHEBL1 Gene

Genomic Locations for RHEBL1 Gene
chr12:49,064,676-49,070,025
(GRCh38/hg38)
Size:
5,350 bases
Orientation:
Minus strand
chr12:49,458,468-49,463,808
(GRCh37/hg19)

Genomic View for RHEBL1 Gene

Genes around RHEBL1 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for RHEBL1 Gene

  • Ubiquitination at Lys162
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for RHEBL1 Gene

Gene Ontology (GO) - Molecular Function for RHEBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IDA,IEA 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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHEBL1 gene
Compartment Confidence
mitochondrion 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RHEBL1 Gene

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

Pathways & Interactions for RHEBL1 Gene

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

Pathways by source for RHEBL1 Gene

1 Sino Biological pathway for RHEBL1 Gene

Gene Ontology (GO) - Biological Process for RHEBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
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 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

(4) 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for RHEBL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RHEBL1 Gene:

RHEBL1

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.

Evidence on tissue expression from TISSUES for RHEBL1 Gene

  • Intestine(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with RHEBL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RHEBL1 33 34
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia RHEBL1 33 34
  • 91.99 (n)
cow
(Bos Taurus)
Mammalia RHEBL1 33 34
  • 90.06 (n)
rat
(Rattus norvegicus)
Mammalia Rhebl1 33
  • 89.07 (n)
mouse
(Mus musculus)
Mammalia Rhebl1 33 16 34
  • 88.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RHEBL1 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHEBL1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhebl1 33
  • 59.74 (n)
zebrafish
(Danio rerio)
Actinopterygii rhebl1 34
  • 55 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Rheb 34
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rheb-1 34
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RHB1 34
  • 35 (a)
OneToMany
Species where no ortholog for RHEBL1 was found in the sources mined by GeneCards:
  • 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

Variants for RHEBL1 Gene

Sequence variations from dbSNP and Humsavar for RHEBL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000129717 -- 49,070,914(+) TTTCA(C/T)CGTGT upstream-variant-2KB
rs1000172834 -- 49,067,378(+) GGGCT(C/T)AAGCA intron-variant
rs1000836120 -- 49,067,652(+) GTGCA(C/T)GCCTG intron-variant
rs1000897758 -- 49,065,175(+) TTGGT(A/G)AAGAT nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon
rs1001116367 -- 49,070,314(+) CTGGG(C/G)TCCTT upstream-variant-2KB, utr-variant-5-prime

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
nsv558833 CNV loss 21841781

Variation tolerance for RHEBL1 Gene

Residual Variation Intolerance Score: 39.8% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 carcinoma of kidney
- elite association - COSMIC cancer census association via MalaCards

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. Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1. (PMID: 16098514) Tee AR … Proud CG (FEBS letters 2005) 2 3 4 22 60
  2. Identification and characterization of RHEBL1, a novel member of Ras family, which activates transcriptional activities of NF-kappa B. (PMID: 16328882) Yuan J … Yu L (Molecular biology reports 2005) 3 4 60
  3. Identification of dominant negative mutants of Rheb GTPase and their use to implicate the involvement of human Rheb in the activation of p70S6K. (PMID: 12869548) Tabancay AP … Tamanoi F (The Journal of biological chemistry 2003) 3 4 60
  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 (The Journal of biological chemistry 2015) 3 60
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 60

Products for RHEBL1 Gene

Sources for RHEBL1 Gene

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