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Q9Y2Q5

- LTOR2_HUMAN

UniProt

Q9Y2Q5 - LTOR2_HUMAN

Protein

Ragulator complex protein LAMTOR2

Gene

LAMTOR2

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

    As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2.2 Publications

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. activation of MAPKK activity Source: Ensembl
    2. cell growth Source: UniProtKB
    3. cellular protein localization Source: UniProtKB
    4. cellular response to amino acid stimulus Source: UniProtKB
    5. positive regulation of GTPase activity Source: GOC
    6. positive regulation of TOR signaling Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ragulator complex protein LAMTOR2
    Alternative name(s):
    Endosomal adaptor protein p14
    Late endosomal/lysosomal Mp1-interacting protein
    Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2
    Mitogen-activated protein-binding protein-interacting protein
    Short name:
    MAPBP-interacting protein
    Roadblock domain-containing protein 3
    Gene namesi
    Name:LAMTOR2
    Synonyms:MAPBPIP, ROBLD3
    ORF Names:HSPC003
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:29796. LAMTOR2.

    Subcellular locationi

    Late endosome membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity. Lysosome membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. late endosome Source: UniProtKB
    3. lysosomal membrane Source: UniProtKB
    4. Ragulator complex Source: UniProtKB

    Keywords - Cellular componenti

    Endosome, Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Immunodeficiency due to defect in MAPBP-interacting protein (ID-MAPBPIP) [MIM:610798]: This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi610798. phenotype.
    Orphaneti90023. Primary immunodeficiency syndrome due to p14 deficiency.
    PharmGKBiPA164725527.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 125125Ragulator complex protein LAMTOR2PRO_0000220960Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y2Q5.
    PaxDbiQ9Y2Q5.
    PRIDEiQ9Y2Q5.

    2D gel databases

    OGPiQ9Y2Q5.

    PTM databases

    PhosphoSiteiQ9Y2Q5.

    Expressioni

    Gene expression databases

    BgeeiQ9Y2Q5.
    GenevestigatoriQ9Y2Q5.

    Organism-specific databases

    HPAiHPA004126.

    Interactioni

    Subunit structurei

    Interacts with MAPK1 and MAP2K1 By similarity. Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5. LAMTOR4 and LAMTOR5 form a heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer. The Ragulator complex interacts with both the mTORC1 complex and heterodimers constituted of the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; regulated by amino acid availability. Interacts with LAMTOR1 and LAMTOR3; the interaction is direct.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    LAMTOR3Q9UHA47EBI-2643704,EBI-1038192

    Protein-protein interaction databases

    BioGridi118783. 12 interactions.
    IntActiQ9Y2Q5. 10 interactions.
    MINTiMINT-5003178.
    STRINGi9606.ENSP00000357288.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2Q5.
    SMRiQ9Y2Q5. Positions 1-125.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni57 – 7014Required for location at endosomesBy similarityAdd
    BLAST

    Sequence similaritiesi

    Belongs to the GAMAD family.Curated

    Phylogenomic databases

    eggNOGiNOG237668.
    HOVERGENiHBG004518.
    OMAiIDCECGH.
    OrthoDBiEOG77DJ8B.
    PhylomeDBiQ9Y2Q5.
    TreeFamiTF313929.

    Family and domain databases

    InterProiIPR004942. Dynein_light-rel.
    [Graphical view]
    PfamiPF03259. Robl_LC7. 1 hit.
    [Graphical view]
    SMARTiSM00960. Robl_LC7. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y2Q5-1) [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

    MLRPKALTQV LSQANTGGVQ STLLLNNEGS LLAYSGYGDT DARVTAAIAS    50
    NIWAAYDRNG NQAFNEDNLK FILMDCMEGR VAITRVANLL LCMYAKETVG 100
    FGMLKAKAQA LVQYLEEPLT QVAAS 125
    Length:125
    Mass (Da):13,508
    Last modified:November 1, 1999 - v1
    Checksum:i69599211C2CBC03D
    GO
    Isoform 2 (identifier: Q9Y2Q5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         109-125: QALVQYLEEPLTQVAAS → VCGTDLCSPSAGPGFGAVPGGAPHPSGGILTALVEAGVRKEK

    Note: No experimental confirmation available.

    Show »
    Length:150
    Mass (Da):15,609
    Checksum:iD45D4B887C721086
    GO
    Isoform 3 (identifier: Q9Y2Q5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         78-107: Missing.

    Show »
    Length:95
    Mass (Da):10,242
    Checksum:i13ADB9F75E3E9E8C
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei78 – 10730Missing in isoform 3. 1 PublicationVSP_040980Add
    BLAST
    Alternative sequencei109 – 12517QALVQ…QVAAS → VCGTDLCSPSAGPGFGAVPG GAPHPSGGILTALVEAGVRK EK in isoform 2. CuratedVSP_036543Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF070659 mRNA. Translation: AAD20965.1.
    AK307086 mRNA. No translation available.
    AL355388 Genomic DNA. Translation: CAH72635.1.
    AL355388 Genomic DNA. Translation: CAH72636.1.
    AL355388 Genomic DNA. Translation: CAH72637.1.
    BC024190 mRNA. Translation: AAH24190.1.
    CCDSiCCDS1128.1. [Q9Y2Q5-1]
    CCDS44243.1. [Q9Y2Q5-3]
    RefSeqiNP_001138736.1. NM_001145264.1. [Q9Y2Q5-3]
    NP_054736.1. NM_014017.3. [Q9Y2Q5-1]
    UniGeneiHs.632483.

    Genome annotation databases

    EnsembliENST00000368302; ENSP00000357285; ENSG00000116586. [Q9Y2Q5-2]
    ENST00000368304; ENSP00000357287; ENSG00000116586. [Q9Y2Q5-3]
    ENST00000368305; ENSP00000357288; ENSG00000116586. [Q9Y2Q5-1]
    GeneIDi28956.
    KEGGihsa:28956.
    UCSCiuc001fnb.3. human. [Q9Y2Q5-1]
    uc010pgy.1. human. [Q9Y2Q5-3]

    Polymorphism databases

    DMDMi12585246.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    MAPBPIPbase

    ROBLD3 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF070659 mRNA. Translation: AAD20965.1 .
    AK307086 mRNA. No translation available.
    AL355388 Genomic DNA. Translation: CAH72635.1 .
    AL355388 Genomic DNA. Translation: CAH72636.1 .
    AL355388 Genomic DNA. Translation: CAH72637.1 .
    BC024190 mRNA. Translation: AAH24190.1 .
    CCDSi CCDS1128.1. [Q9Y2Q5-1 ]
    CCDS44243.1. [Q9Y2Q5-3 ]
    RefSeqi NP_001138736.1. NM_001145264.1. [Q9Y2Q5-3 ]
    NP_054736.1. NM_014017.3. [Q9Y2Q5-1 ]
    UniGenei Hs.632483.

    3D structure databases

    ProteinModelPortali Q9Y2Q5.
    SMRi Q9Y2Q5. Positions 1-125.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118783. 12 interactions.
    IntActi Q9Y2Q5. 10 interactions.
    MINTi MINT-5003178.
    STRINGi 9606.ENSP00000357288.

    PTM databases

    PhosphoSitei Q9Y2Q5.

    Polymorphism databases

    DMDMi 12585246.

    2D gel databases

    OGPi Q9Y2Q5.

    Proteomic databases

    MaxQBi Q9Y2Q5.
    PaxDbi Q9Y2Q5.
    PRIDEi Q9Y2Q5.

    Protocols and materials databases

    DNASUi 28956.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368302 ; ENSP00000357285 ; ENSG00000116586 . [Q9Y2Q5-2 ]
    ENST00000368304 ; ENSP00000357287 ; ENSG00000116586 . [Q9Y2Q5-3 ]
    ENST00000368305 ; ENSP00000357288 ; ENSG00000116586 . [Q9Y2Q5-1 ]
    GeneIDi 28956.
    KEGGi hsa:28956.
    UCSCi uc001fnb.3. human. [Q9Y2Q5-1 ]
    uc010pgy.1. human. [Q9Y2Q5-3 ]

    Organism-specific databases

    CTDi 28956.
    GeneCardsi GC01P156025.
    HGNCi HGNC:29796. LAMTOR2.
    HPAi HPA004126.
    MIMi 610389. gene.
    610798. phenotype.
    neXtProti NX_Q9Y2Q5.
    Orphaneti 90023. Primary immunodeficiency syndrome due to p14 deficiency.
    PharmGKBi PA164725527.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG237668.
    HOVERGENi HBG004518.
    OMAi IDCECGH.
    OrthoDBi EOG77DJ8B.
    PhylomeDBi Q9Y2Q5.
    TreeFami TF313929.

    Miscellaneous databases

    GenomeRNAii 28956.
    NextBioi 51776.
    PROi Q9Y2Q5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Y2Q5.
    Genevestigatori Q9Y2Q5.

    Family and domain databases

    InterProi IPR004942. Dynein_light-rel.
    [Graphical view ]
    Pfami PF03259. Robl_LC7. 1 hit.
    [Graphical view ]
    SMARTi SM00960. Robl_LC7. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Umbilical cord blood.
    2. "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 3).
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Lung.
    5. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Placenta.
    6. "A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14."
      Bohn G., Allroth A., Brandes G., Thiel J., Glocker E., Schaeffer A.A., Rathinam C., Taub N., Teis D., Zeidler C., Dewey R.A., Geffers R., Buer J., Huber L.A., Welte K., Grimbacher B., Klein C.
      Nat. Med. 13:38-45(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN.
    7. "Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids."
      Sancak Y., Bar-Peled L., Zoncu R., Markhard A.L., Nada S., Sabatini D.M.
      Cell 141:290-303(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN RAGULATOR COMPLEX.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Ragulator is a GEF for the Rag GTPases that signal amino acid levels to mTORC1."
      Bar-Peled L., Schweitzer L.D., Zoncu R., Sabatini D.M.
      Cell 150:1196-1208(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN MTORC1 SIGNALING, IDENTIFICATION IN RAGULATOR COMPLEX, INTERACTION WITH MTORC1 COMPLEX AND RAG GTPASES.

    Entry informationi

    Entry nameiLTOR2_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2Q5
    Secondary accession number(s): Q5VY97, Q5VY98, Q5VY99
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 116 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3