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Q8TAI7 (REBL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:RHEBL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length183 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1 Ref.6 Ref.7 Ref.9

Subunit structure

Interacts with MTOR. Ref.7

Subcellular location

Cell membrane; Lipid-anchor; Cytoplasmic side By similarity. Cytoplasm Ref.1.

Tissue specificity

Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines. Ref.1 Ref.8

Sequence similarities

Belongs to the small GTPase superfamily. Rheb family.

Sequence caution

The sequence AAS80166.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TAI7-1)

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.
Isoform 2 (identifier: Q8TAI7-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 180180GTPase RhebL1
PRO_0000324292
Propeptide181 – 1833Removed in mature form By similarity
PRO_0000324293

Regions

Nucleotide binding13 – 208GTP By similarity
Nucleotide binding60 – 645GTP By similarity
Nucleotide binding119 – 1224GTP By similarity
Motif35 – 439Effector region

Amino acid modifications

Modified residue1801Cysteine methyl ester By similarity
Lipidation1801S-farnesyl cysteine Ref.8

Natural variations

Alternative sequence18 – 6851GKTSL…QDEYS → VRKDRGCECGWMIWIQLSHC SPQGRHLWHINLWKASSRKA TILQWRILTAR in isoform 2.
VSP_040851
Alternative sequence69 – 183115Missing in isoform 2.
VSP_040852

Experimental info

Mutagenesis411N → A: Partially impaired in RPS6K1 activation. Ref.7
Mutagenesis541F → A: Partially deficient in guanine nucleotide binding. Ref.7
Mutagenesis561L → A: Partially deficient in guanine nucleotide binding. Ref.7
Mutagenesis601D → K: Significant decrease in NF-kappa B activation. Ref.1
Mutagenesis641Q → L: Constitutively active. Ref.1

Secondary structure

.......................... 183
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 0C5408800B61DD62

FASTA18320,682
        10         20         30         40         50         60 
MPLVRYRKVV ILGYRCVGKT SLAHQFVEGE FSEGYDPTVE NTYSKIVTLG KDEFHLHLVD 

        70         80         90        100        110        120 
TAGQDEYSIL PYSFIIGVHG YVLVYSVTSL HSFQVIESLY QKLHEGHGKT RVPVVLVGNK 

       130        140        150        160        170        180 
ADLSPEREVQ AVEGKKLAES WGATFMESSA RENQLTQGIF TKVIQEIARV ENSYGQERRC 


HLM 

« Hide

Isoform 2 [UniParc].

Checksum: 5412A25D63C02FB8
Show »

FASTA688,176

References

« Hide 'large scale' references
[1]"Identification and characterization of RHEBL1, a novel member of Ras family, which activates transcriptional activities of NF-kappa B."
Yuan J., Shan Y., Chen X., Tang W., Luo K., Ni J., Wan B., Yu L.
Mol. Biol. Rep. 32:205-214(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF ASP-60 AND GLN-64.
Tissue: Brain.
[2]"Ras homolog enriched in brain like 1 c."
Wu M., Mao Y., Xie Y.
Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Duodenum.
[6]"Identification of dominant negative mutants of Rheb GTPase and their use to implicate the involvement of human Rheb in the activation of p70S6K."
Tabancay A.P. Jr., Gau C.L., Machado I.M., Uhlmann E.J., Gutmann D.H., Guo L., Tamanoi F.
J. Biol. Chem. 278:39921-39930(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[7]"Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1."
Tee A.R., Blenis J., Proud C.G.
FEBS Lett. 579:4763-4768(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH MTOR, MUTAGENESIS OF ASN-41; PHE-54 AND LEU-56.
[8]"The farnesyl transferase inhibitor (FTI) SCH66336 (lonafarnib) inhibits Rheb farnesylation and mTOR signaling. Role in FTI enhancement of taxane and tamoxifen anti-tumor activity."
Basso A.D., Mirza A., Liu G., Long B.J., Bishop W.R., Kirschmeier P.
J. Biol. Chem. 280:31101-31108(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, ISOPRENYLATION AT CYS-180.
[9]"Activation of the mTOR signaling pathway in renal clear cell carcinoma."
Robb V.A., Karbowniczek M., Klein-Szanto A.J., Henske E.P.
J. Urol. 177:346-352(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_653194.1. NM_144593.1.
XP_005268691.1. XM_005268634.1.
UniGeneHs.159013.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3OESX-ray2.30A1-183[»]
ProteinModelPortalQ8TAI7.
SMRQ8TAI7. Positions 5-170.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125715. 6 interactions.
IntActQ8TAI7. 5 interactions.
MINTMINT-1365371.
STRING9606.ENSP00000301068.

PTM databases

PhosphoSiteQ8TAI7.

Polymorphism databases

DMDM74730357.

Proteomic databases

PaxDbQ8TAI7.
PRIDEQ8TAI7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301068; ENSP00000301068; ENSG00000167550. [Q8TAI7-1]
ENST00000550797; ENSP00000446726; ENSG00000167550. [Q8TAI7-2]
GeneID121268.
KEGGhsa:121268.
UCSCuc001rtc.1. human. [Q8TAI7-1]

Organism-specific databases

CTD121268.
GeneCardsGC12M049458.
HGNCHGNC:21166. RHEBL1.
HPAHPA053111.
HPA061001.
neXtProtNX_Q8TAI7.
PharmGKBPA134984759.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1100.
HOGENOMHOG000233973.
HOVERGENHBG009351.
InParanoidQ8TAI7.
KOK07849.
OMARYRKVAI.
OrthoDBEOG7Q2N6K.
PhylomeDBQ8TAI7.
TreeFamTF314986.

Enzyme and pathway databases

BRENDA3.6.5.2. 2681.

Gene expression databases

ArrayExpressQ8TAI7.
BgeeQ8TAI7.
CleanExHS_RHEBL1.
GenevestigatorQ8TAI7.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR020849. Small_GTPase_Ras.
[Graphical view]
PANTHERPTHR24070. PTHR24070. 1 hit.
PfamPF00071. Ras. 1 hit.
[Graphical view]
PRINTSPR00449. RASTRNSFRMNG.
SMARTSM00173. RAS. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR00231. small_GTP. 1 hit.
PROSITEPS51421. RAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ8TAI7.
GenomeRNAi121268.
NextBio80692.
PROQ8TAI7.

Entry information

Entry nameREBL1_HUMAN
AccessionPrimary (citable) accession number: Q8TAI7
Secondary accession number(s): Q56VH8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: June 1, 2002
Last modified: April 16, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM