Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	121268
Gene name	RHEB like 1
Gene symbol	RHEBL1
Synonyms (NCBI Gene)	RHEBL1c
Chromosome	12
Chromosome location	12q13.12

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028092	hsa-miR-93-5p	Sequencing	20371350
MIRT031268	hsa-miR-19b-3p	Sequencing	20371350
MIRT495246	hsa-miR-1295b-5p	PAR-CLIP	23708386
MIRT495245	hsa-miR-1912	PAR-CLIP	23708386
MIRT495244	hsa-miR-3130-5p	PAR-CLIP	23708386
MIRT495243	hsa-miR-4482-5p	PAR-CLIP	23708386
MIRT495242	hsa-miR-3127-3p	PAR-CLIP	23708386
MIRT495240	hsa-miR-6756-3p	PAR-CLIP	23708386
MIRT495241	hsa-miR-5591-3p	PAR-CLIP	23708386
MIRT495246	hsa-miR-1295b-5p	PAR-CLIP	23708386
MIRT495245	hsa-miR-1912	PAR-CLIP	23708386
MIRT495244	hsa-miR-3130-5p	PAR-CLIP	23708386
MIRT495243	hsa-miR-4482-5p	PAR-CLIP	23708386
MIRT495242	hsa-miR-3127-3p	PAR-CLIP	23708386
MIRT495240	hsa-miR-6756-3p	PAR-CLIP	23708386
MIRT495241	hsa-miR-5591-3p	PAR-CLIP	23708386
MIRT2611468	hsa-miR-154	CLIP-seq
MIRT2611469	hsa-miR-1972	CLIP-seq
MIRT2611470	hsa-miR-199a-5p	CLIP-seq
MIRT2611471	hsa-miR-199b-5p	CLIP-seq
MIRT2611472	hsa-miR-30a	CLIP-seq
MIRT2611473	hsa-miR-30b	CLIP-seq
MIRT2611474	hsa-miR-30c	CLIP-seq
MIRT2611475	hsa-miR-30d	CLIP-seq
MIRT2611476	hsa-miR-30e	CLIP-seq
MIRT2611477	hsa-miR-3913-3p	CLIP-seq
MIRT2611478	hsa-miR-4252	CLIP-seq
MIRT2611479	hsa-miR-4645-5p	CLIP-seq
MIRT2611480	hsa-miR-4673	CLIP-seq
MIRT2611481	hsa-miR-4712-3p	CLIP-seq
MIRT2611482	hsa-miR-4717-5p	CLIP-seq
MIRT2611483	hsa-miR-4721	CLIP-seq
MIRT2611484	hsa-miR-4749-3p	CLIP-seq
MIRT2611485	hsa-miR-4760-3p	CLIP-seq
MIRT2611486	hsa-miR-489	CLIP-seq
MIRT2611487	hsa-miR-502-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	24722188, 25416956, 32296183, 32814053
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	12869548
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	16328882
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IBA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IBA
GO:0031929	Process	TOR signaling	IMP	12869548
GO:0046872	Function	Metal ion binding	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	16328882

MIM	HGNC	e!Ensembl
618956	21166	ENSG00000167550

Q8TAI7

Protein name

GTPase RhebL1 (EC 3.6.5.-) (Ras homolog enriched in brain like-1 c) (RhebL1c) (Ras homolog enriched in brain-like protein 1) (Rheb-like protein 1) (Rheb2)

Protein function

Binds GTP and exhibits intrinsic GTPase activity (By similarity). May activate NF-kappa-B-mediated gene transcription (PubMed:16328882). Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase

PDB

3OES

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	8 → 169	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines. {ECO:0000269|PubMed:16006564, ECO:0000269|PubMed:16328882}.

Sequence

MPLVRYRKVVILGYRCVGKTSLAHQFVEGEFSEGYDPTVENTYSKIVTLGKDEFHLHLVD
TAGQDEYSILPYSFIIGVHGYVLVYSVTSLHSFQVIESLYQKLHEGHGKTRVPVVLVGNK
ADLSPEREVQAVEGKKLAESWGATFMESSARENQLTQGIFTKVIQEIARVENSYGQERRC
HLM

Sequence length

183

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Bipolar Disorder	Associate	23070075	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Associate	36944699	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	36944699	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	24127550	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	28209923	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Associate	36297114	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Associate	36944699	★★★★★ ★☆☆☆☆ Found in Text Mining only

RHEBL1 (RHEB like 1)