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Q8TAI7

- REBL1_HUMAN

UniProt

Q8TAI7 - REBL1_HUMAN

Protein

GTPase RhebL1

Gene

RHEBL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi13 – 208GTPBy similarity
    Nucleotide bindingi60 – 645GTPBy similarity
    Nucleotide bindingi119 – 1224GTPBy similarity

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB

    GO - Biological processi

    1. GTP catabolic process Source: InterPro
    2. positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
    3. small GTPase mediated signal transduction Source: InterPro
    4. TOR signaling Source: UniProtKB

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    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
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:21166. RHEBL1.

    Subcellular locationi

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

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi41 – 411N → A: Partially impaired in RPS6K1 activation. 1 Publication
    Mutagenesisi54 – 541F → A: Partially deficient in guanine nucleotide binding. 1 Publication
    Mutagenesisi56 – 561L → A: Partially deficient in guanine nucleotide binding. 1 Publication
    Mutagenesisi60 – 601D → K: Significant decrease in NF-kappa B activation. 1 Publication
    Mutagenesisi64 – 641Q → L: Constitutively active. 1 Publication

    Organism-specific databases

    PharmGKBiPA134984759.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 180180GTPase RhebL1PRO_0000324292Add
    BLAST
    Propeptidei181 – 1833Removed in mature formBy similarityPRO_0000324293

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei180 – 1801Cysteine methyl esterBy similarity
    Lipidationi180 – 1801S-farnesyl cysteine1 Publication

    Keywords - PTMi

    Lipoprotein, Methylation, Prenylation

    Proteomic databases

    PaxDbiQ8TAI7.
    PRIDEiQ8TAI7.

    PTM databases

    PhosphoSiteiQ8TAI7.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ8TAI7.
    BgeeiQ8TAI7.
    CleanExiHS_RHEBL1.
    GenevestigatoriQ8TAI7.

    Organism-specific databases

    HPAiHPA053111.
    HPA061001.

    Interactioni

    Subunit structurei

    Interacts with MTOR.1 Publication

    Protein-protein interaction databases

    BioGridi125715. 6 interactions.
    IntActiQ8TAI7. 5 interactions.
    MINTiMINT-1365371.
    STRINGi9606.ENSP00000301068.

    Structurei

    Secondary structure

    1
    183
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi6 – 149
    Helixi19 – 2810
    Beta strandi39 – 479
    Beta strandi54 – 618
    Helixi72 – 743
    Turni75 – 773
    Beta strandi80 – 867
    Helixi90 – 10415
    Beta strandi114 – 1196
    Helixi124 – 1263
    Helixi131 – 14111
    Beta strandi144 – 1474
    Helixi153 – 16917

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3OESX-ray2.30A1-183[»]
    ProteinModelPortaliQ8TAI7.
    SMRiQ8TAI7. Positions 5-170.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8TAI7.

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi35 – 439Effector region

    Sequence similaritiesi

    Belongs to the small GTPase superfamily. Rheb family.Curated

    Phylogenomic databases

    eggNOGiCOG1100.
    HOGENOMiHOG000233973.
    HOVERGENiHBG009351.
    InParanoidiQ8TAI7.
    KOiK07849.
    OMAiRYRKVAI.
    OrthoDBiEOG7Q2N6K.
    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]
    PRINTSiPR00449. RASTRNSFRMNG.
    SMARTiSM00173. 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. Align

    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

    MPLVRYRKVV ILGYRCVGKT SLAHQFVEGE FSEGYDPTVE NTYSKIVTLG    50
    KDEFHLHLVD TAGQDEYSIL PYSFIIGVHG YVLVYSVTSL HSFQVIESLY 100
    QKLHEGHGKT RVPVVLVGNK ADLSPEREVQ AVEGKKLAES WGATFMESSA 150
    RENQLTQGIF TKVIQEIARV ENSYGQERRC HLM 183
    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

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei18 – 6851GKTSL…QDEYS → VRKDRGCECGWMIWIQLSHC SPQGRHLWHINLWKASSRKA TILQWRILTAR in isoform 2. 1 PublicationVSP_040851Add
    BLAST
    Alternative sequencei69 – 183115Missing in isoform 2. 1 PublicationVSP_040852Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_653194.1. NM_144593.1. [Q8TAI7-1]
    XP_005268691.1. XM_005268634.1.
    UniGeneiHs.159013.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi74730357.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS8778.1. [Q8TAI7-1 ]
    RefSeqi NP_653194.1. NM_144593.1. [Q8TAI7-1 ]
    XP_005268691.1. XM_005268634.1.
    UniGenei Hs.159013.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3OES X-ray 2.30 A 1-183 [» ]
    ProteinModelPortali Q8TAI7.
    SMRi Q8TAI7. Positions 5-170.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125715. 6 interactions.
    IntActi Q8TAI7. 5 interactions.
    MINTi MINT-1365371.
    STRINGi 9606.ENSP00000301068.

    PTM databases

    PhosphoSitei Q8TAI7.

    Polymorphism databases

    DMDMi 74730357.

    Proteomic databases

    PaxDbi Q8TAI7.
    PRIDEi Q8TAI7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000301068 ; ENSP00000301068 ; ENSG00000167550 . [Q8TAI7-1 ]
    ENST00000550797 ; ENSP00000446726 ; ENSG00000167550 . [Q8TAI7-2 ]
    GeneIDi 121268.
    KEGGi hsa:121268.
    UCSCi uc001rtc.1. human. [Q8TAI7-1 ]

    Organism-specific databases

    CTDi 121268.
    GeneCardsi GC12M049458.
    HGNCi HGNC:21166. RHEBL1.
    HPAi HPA053111.
    HPA061001.
    neXtProti NX_Q8TAI7.
    PharmGKBi PA134984759.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1100.
    HOGENOMi HOG000233973.
    HOVERGENi HBG009351.
    InParanoidi Q8TAI7.
    KOi K07849.
    OMAi RYRKVAI.
    OrthoDBi EOG7Q2N6K.
    PhylomeDBi Q8TAI7.
    TreeFami TF314986.

    Enzyme and pathway databases

    BRENDAi 3.6.5.2. 2681.

    Miscellaneous databases

    EvolutionaryTracei Q8TAI7.
    GenomeRNAii 121268.
    NextBioi 80692.
    PROi Q8TAI7.

    Gene expression databases

    ArrayExpressi Q8TAI7.
    Bgeei Q8TAI7.
    CleanExi HS_RHEBL1.
    Genevestigatori Q8TAI7.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR027417. P-loop_NTPase.
    IPR005225. Small_GTP-bd_dom.
    IPR001806. Small_GTPase.
    IPR020849. Small_GTPase_Ras.
    [Graphical view ]
    PANTHERi PTHR24070. PTHR24070. 1 hit.
    Pfami PF00071. Ras. 1 hit.
    [Graphical view ]
    PRINTSi PR00449. RASTRNSFRMNG.
    SMARTi SM00173. RAS. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR00231. small_GTP. 1 hit.
    PROSITEi PS51421. RAS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.

    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: October 1, 2014
    This is version 120 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

    External Data

    Dasty 3