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Protein

GTPase RhebL1

Gene

RHEBL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 TSC2.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi38MagnesiumBy similarity1
Binding sitei63GTP; via amide nitrogen1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi16 – 21GTP1 Publication6
Nucleotide bindingi32 – 38GTP1 Publication7
Nucleotide bindingi119 – 122GTP1 Publication4
Nucleotide bindingi149 – 150GTP1 Publication2

GO - Molecular functioni

  • GTP binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
  • small GTPase mediated signal transduction Source: InterPro
  • TOR signaling Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167550-MONOMER.
BRENDAi3.6.5.2. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
GTPase RhebL1
Alternative name(s):
Ras homolog enriched in brain like-1 c
Short name:
RhebL1c
Ras homolog enriched in brain-like protein 1
Short name:
Rheb-like protein 1
Rheb2
Gene namesi
Name:RHEBL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:21166. RHEBL1.

Subcellular locationi

  • Endomembrane system 1 Publication; Lipid-anchor 1 Publication; Cytoplasmic side Curated
  • Cytoplasm 1 Publication

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • endomembrane system Source: UniProtKB-SubCell
  • membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi41N → A: Partially impaired in RPS6K1 activation. 1 Publication1
Mutagenesisi54F → A: Partially deficient in guanine nucleotide binding. 1 Publication1
Mutagenesisi56L → A: Partially deficient in guanine nucleotide binding. 1 Publication1
Mutagenesisi60D → K: Significant decrease in NF-kappa B activation. 1 Publication1
Mutagenesisi64Q → L: Constitutively active. 1 Publication1

Organism-specific databases

DisGeNETi121268.
OpenTargetsiENSG00000167550.
PharmGKBiPA134984759.

Polymorphism and mutation databases

BioMutaiRHEBL1.
DMDMi74730357.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003242921 – 180GTPase RhebL1Add BLAST180
PropeptideiPRO_0000324293181 – 183Removed in mature formBy similarity3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei180Cysteine methyl esterBy similarity1
Lipidationi180S-farnesyl cysteine1 Publication1

Keywords - PTMi

Lipoprotein, Methylation, Prenylation

Proteomic databases

PaxDbiQ8TAI7.
PeptideAtlasiQ8TAI7.
PRIDEiQ8TAI7.

PTM databases

iPTMnetiQ8TAI7.
PhosphoSitePlusiQ8TAI7.

Expressioni

Tissue specificityi

Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines.2 Publications

Gene expression databases

BgeeiENSG00000167550.
CleanExiHS_RHEBL1.
ExpressionAtlasiQ8TAI7. baseline and differential.
GenevisibleiQ8TAI7. HS.

Organism-specific databases

HPAiHPA053111.
HPA061001.

Interactioni

Subunit structurei

Interacts with MTOR.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
APPL1Q9UKG13EBI-746555,EBI-741243
FHL3Q136433EBI-746555,EBI-741101
PRKAB2O437415EBI-746555,EBI-1053424

Protein-protein interaction databases

BioGridi125715. 9 interactors.
IntActiQ8TAI7. 8 interactors.
MINTiMINT-1365371.
STRINGi9606.ENSP00000301068.

Structurei

Secondary structure

1183
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi6 – 14Combined sources9
Helixi19 – 28Combined sources10
Beta strandi39 – 47Combined sources9
Beta strandi54 – 61Combined sources8
Helixi72 – 74Combined sources3
Turni75 – 77Combined sources3
Beta strandi80 – 86Combined sources7
Helixi90 – 104Combined sources15
Beta strandi114 – 119Combined sources6
Helixi124 – 126Combined sources3
Helixi131 – 141Combined sources11
Beta strandi144 – 147Combined sources4
Helixi153 – 169Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3OESX-ray2.30A1-183[»]
ProteinModelPortaliQ8TAI7.
SMRiQ8TAI7.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8TAI7.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi35 – 43Effector region9

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rheb family.Curated

Phylogenomic databases

eggNOGiKOG0395. Eukaryota.
COG1100. LUCA.
GeneTreeiENSGT00860000133696.
HOGENOMiHOG000233973.
HOVERGENiHBG009351.
InParanoidiQ8TAI7.
KOiK07849.
OMAiRYRKVAI.
OrthoDBiEOG091G0ONO.
PhylomeDBiQ8TAI7.
TreeFamiTF314986.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR020849. Small_GTPase_Ras.
[Graphical view]
PANTHERiPTHR24070. PTHR24070. 1 hit.
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51421. RAS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TAI7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPLVRYRKVV ILGYRCVGKT SLAHQFVEGE FSEGYDPTVE NTYSKIVTLG
60 70 80 90 100
KDEFHLHLVD TAGQDEYSIL PYSFIIGVHG YVLVYSVTSL HSFQVIESLY
110 120 130 140 150
QKLHEGHGKT RVPVVLVGNK ADLSPEREVQ AVEGKKLAES WGATFMESSA
160 170 180
RENQLTQGIF TKVIQEIARV ENSYGQERRC HLM
Length:183
Mass (Da):20,682
Last modified:June 1, 2002 - v1
Checksum:i0C5408800B61DD62
GO
Isoform 2 (identifier: Q8TAI7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     18-68: GKTSLAHQFV...VDTAGQDEYS → VRKDRGCECG...ILQWRILTAR
     69-183: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:68
Mass (Da):8,176
Checksum:i5412A25D63C02FB8
GO

Sequence cautioni

The sequence AAS80166 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04085118 – 68GKTSL…QDEYS → VRKDRGCECGWMIWIQLSHC SPQGRHLWHINLWKASSRKA TILQWRILTAR in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_04085269 – 183Missing in isoform 2. 1 PublicationAdd BLAST115

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY327412 mRNA. Translation: AAP92804.1.
AY509932 mRNA. Translation: AAS80166.1. Sequence problems.
AK098663 mRNA. Translation: BAC05370.1.
CH471111 Genomic DNA. Translation: EAW58038.1.
BC027482 mRNA. Translation: AAH27482.1.
CCDSiCCDS8778.1. [Q8TAI7-1]
RefSeqiNP_001290055.1. NM_001303126.1.
NP_653194.1. NM_144593.2. [Q8TAI7-1]
UniGeneiHs.159013.

Genome annotation databases

EnsembliENST00000301068; ENSP00000301068; ENSG00000167550. [Q8TAI7-1]
ENST00000550797; ENSP00000446726; ENSG00000167550. [Q8TAI7-2]
GeneIDi121268.
KEGGihsa:121268.
UCSCiuc001rtc.2. human. [Q8TAI7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY327412 mRNA. Translation: AAP92804.1.
AY509932 mRNA. Translation: AAS80166.1. Sequence problems.
AK098663 mRNA. Translation: BAC05370.1.
CH471111 Genomic DNA. Translation: EAW58038.1.
BC027482 mRNA. Translation: AAH27482.1.
CCDSiCCDS8778.1. [Q8TAI7-1]
RefSeqiNP_001290055.1. NM_001303126.1.
NP_653194.1. NM_144593.2. [Q8TAI7-1]
UniGeneiHs.159013.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3OESX-ray2.30A1-183[»]
ProteinModelPortaliQ8TAI7.
SMRiQ8TAI7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125715. 9 interactors.
IntActiQ8TAI7. 8 interactors.
MINTiMINT-1365371.
STRINGi9606.ENSP00000301068.

PTM databases

iPTMnetiQ8TAI7.
PhosphoSitePlusiQ8TAI7.

Polymorphism and mutation databases

BioMutaiRHEBL1.
DMDMi74730357.

Proteomic databases

PaxDbiQ8TAI7.
PeptideAtlasiQ8TAI7.
PRIDEiQ8TAI7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301068; ENSP00000301068; ENSG00000167550. [Q8TAI7-1]
ENST00000550797; ENSP00000446726; ENSG00000167550. [Q8TAI7-2]
GeneIDi121268.
KEGGihsa:121268.
UCSCiuc001rtc.2. human. [Q8TAI7-1]

Organism-specific databases

CTDi121268.
DisGeNETi121268.
GeneCardsiRHEBL1.
HGNCiHGNC:21166. RHEBL1.
HPAiHPA053111.
HPA061001.
neXtProtiNX_Q8TAI7.
OpenTargetsiENSG00000167550.
PharmGKBiPA134984759.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0395. Eukaryota.
COG1100. LUCA.
GeneTreeiENSGT00860000133696.
HOGENOMiHOG000233973.
HOVERGENiHBG009351.
InParanoidiQ8TAI7.
KOiK07849.
OMAiRYRKVAI.
OrthoDBiEOG091G0ONO.
PhylomeDBiQ8TAI7.
TreeFamiTF314986.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167550-MONOMER.
BRENDAi3.6.5.2. 2681.

Miscellaneous databases

EvolutionaryTraceiQ8TAI7.
GenomeRNAii121268.
PROiQ8TAI7.

Gene expression databases

BgeeiENSG00000167550.
CleanExiHS_RHEBL1.
ExpressionAtlasiQ8TAI7. baseline and differential.
GenevisibleiQ8TAI7. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR020849. Small_GTPase_Ras.
[Graphical view]
PANTHERiPTHR24070. PTHR24070. 1 hit.
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51421. RAS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiREBL1_HUMAN
AccessioniPrimary (citable) accession number: Q8TAI7
Secondary accession number(s): Q56VH8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: June 1, 2002
Last modified: November 30, 2016
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.