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 (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31668641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	23070075	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	24127550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17162089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36944699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24127550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24127550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28209923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36297114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RHEBL1 (RHEB like 1)