RHEBL1 RHEB like 1 [Homo sapiens (human)] - Gene

Summary

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, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
RhebL1 may be impacting the mTOR pathway in a different manner than Rheb1.
Title: Effects of RhebL1 silencing on the mTOR pathway.
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.
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.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-80634 (e-PCR)
- UniSTS:102201

SHGC-85712 (e-PCR)
- UniSTS:103745

G54255 (e-PCR)
- UniSTS:109522

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

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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)

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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)

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
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

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