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Q9Y2Q5 (LTOR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:LAMTOR2
Synonyms:MAPBPIP, ROBLD3
ORF Names:HSPC003
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length125 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7 Ref.9

Subunit structure

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. Ref.7 Ref.9

Subcellular location

Late endosome membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side By similarity Ref.5.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the GAMAD family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

LAMTOR3Q9UHA47EBI-2643704,EBI-1038192

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2Q5-1)

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: Q9Y2Q5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     109-125: QALVQYLEEPLTQVAAS → VCGTDLCSPSAGPGFGAVPGGAPHPSGGILTALVEAGVRKEK
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9Y2Q5-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 125125Ragulator complex protein LAMTOR2
PRO_0000220960

Regions

Region57 – 7014Required for location at endosomes By similarity

Natural variations

Alternative sequence78 – 10730Missing in isoform 3.
VSP_040980
Alternative sequence109 – 12517QALVQ…QVAAS → VCGTDLCSPSAGPGFGAVPG GAPHPSGGILTALVEAGVRK EK in isoform 2.
VSP_036543

Sequences

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

Last modified November 1, 1999. Version 1.
Checksum: 69599211C2CBC03D

FASTA12513,508
        10         20         30         40         50         60 
MLRPKALTQV LSQANTGGVQ STLLLNNEGS LLAYSGYGDT DARVTAAIAS NIWAAYDRNG 

        70         80         90        100        110        120 
NQAFNEDNLK FILMDCMEGR VAITRVANLL LCMYAKETVG FGMLKAKAQA LVQYLEEPLT 


QVAAS 

« Hide

Isoform 2 [UniParc].

Checksum: D45D4B887C721086
Show »

FASTA15015,609
Isoform 3 [UniParc].

Checksum: 13ADB9F75E3E9E8C
Show »

FASTA9510,242

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. 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 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. expand/collapse author list , 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]"Integral and associated lysosomal membrane proteins."
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

MAPBPIPbase

ROBLD3 mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001138736.1. NM_001145264.1.
NP_054736.1. NM_014017.3.
UniGeneHs.632483.

3D structure databases

ProteinModelPortalQ9Y2Q5.
SMRQ9Y2Q5. Positions 1-125.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118783. 12 interactions.
IntActQ9Y2Q5. 10 interactions.
MINTMINT-5003178.
STRING9606.ENSP00000357288.

PTM databases

PhosphoSiteQ9Y2Q5.

Polymorphism databases

DMDM12585246.

2D gel databases

OGPQ9Y2Q5.

Proteomic databases

PaxDbQ9Y2Q5.
PRIDEQ9Y2Q5.

Protocols and materials databases

DNASU28956.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368302; ENSP00000357285; ENSG00000116586. [Q9Y2Q5-2]
ENST00000368304; ENSP00000357287; ENSG00000116586. [Q9Y2Q5-3]
ENST00000368305; ENSP00000357288; ENSG00000116586. [Q9Y2Q5-1]
GeneID28956.
KEGGhsa:28956.
UCSCuc001fnb.3. human. [Q9Y2Q5-1]
uc010pgy.1. human. [Q9Y2Q5-3]

Organism-specific databases

CTD28956.
GeneCardsGC01P156025.
HGNCHGNC:29796. LAMTOR2.
HPAHPA004126.
MIM610389. gene.
610798. phenotype.
neXtProtNX_Q9Y2Q5.
Orphanet90023. Primary immunodeficiency syndrome due to p14 deficiency.
PharmGKBPA164725527.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG237668.
HOVERGENHBG004518.
OMAWAAYEKH.
OrthoDBEOG77DJ8B.
PhylomeDBQ9Y2Q5.
TreeFamTF313929.

Gene expression databases

BgeeQ9Y2Q5.
GenevestigatorQ9Y2Q5.

Family and domain databases

InterProIPR004942. Dynein_light-rel.
[Graphical view]
PfamPF03259. Robl_LC7. 1 hit.
[Graphical view]
SMARTSM00960. Robl_LC7. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi28956.
NextBio51776.
PROQ9Y2Q5.
SOURCESearch...

Entry information

Entry nameLTOR2_HUMAN
AccessionPrimary (citable) accession number: Q9Y2Q5
Secondary accession number(s): Q5VY97, Q5VY98, Q5VY99
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 1, 1999
Last modified: April 16, 2014
This is version 111 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM