Human Gene LAMTOR5 (ENST00000602318.6_10) from GENCODE V47lift37
  Description: late endosomal/lysosomal adaptor, MAPK and MTOR activator 5, transcript variant 2 (from RefSeq NM_001382293.1)
Gencode Transcript: ENST00000602318.6_10
Gencode Gene: ENSG00000134248.14_12
Transcript (Including UTRs)
   Position: hg19 chr1:110,943,875-110,950,316 Size: 6,442 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:110,944,145-110,950,242 Size: 6,098 Coding Exon Count: 4 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:110,943,875-110,950,316)mRNA (may differ from genome)Protein (91 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LTOR5_HUMAN
DESCRIPTION: RecName: Full=Ragulator complex protein LAMTOR5; AltName: Full=Hepatitis B virus X-interacting protein; Short=HBV X-interacting protein; Short=HBX-interacting protein; AltName: Full=Late endosomal/lysosomal adaptor and MAPK and MTOR activator 5;
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. When complexed to BIRC5, interferes with apoptosome assembly, preventing recruitment of pro-caspase-9 to oligomerized APAF1, thereby selectively suppressing apoptosis initiated via the mitochondrial/cytochrome c pathway. Down-regulates hepatitis B virus (HBV) replication.
SUBUNIT: Homodimer (Probable). Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5. LAMTOR4 and LAMTOR5 form an 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 phosphorylated BIRC5; the resulting complex binds pro-caspase-9, as well as active caspase-9, but much less efficiently. Interacts with SUPV3L1. Interacts with hepatitis B virus (HBV) oncoprotein HBX C-terminus.
SUBCELLULAR LOCATION: Cytoplasm. Lysosome.
TISSUE SPECIFICITY: Highly expressed in skeletal and cardiac muscle, followed by pancreas, kidney, liver, brain, placenta and lung. Elevated levels in both cancerous and non-cancerous liver tissue of patients with chronic HBV infection compared with hepatic tissue without HBV infection.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: Suppression of caspase activation by the BIRC5/HBXIP complex is increased in the presence of HBX.
SIMILARITY: Belongs to the LAMTOR5 family.
SEQUENCE CAUTION: Sequence=AAH62619.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LAMTOR5
Diseases sorted by gene-association score: hepatitis b (73), hepatitis (26)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 74.86 RPKM in Kidney - Cortex
Total median expression: 1675.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.4074-0.303 Picture PostScript Text
3' UTR -59.20270-0.219 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024135 - Hepatitis_HBXIP

Pfam Domains:
PF16672 - Ragulator complex protein LAMTOR5

SCOP Domains:
103196 - Roadblock/LC7 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3MS6 - X-ray MuPIT 3MSH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O43504
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0032947 protein complex scaffold

Biological Process:
GO:0007050 cell cycle arrest
GO:0008361 regulation of cell size
GO:0009615 response to virus
GO:0016241 regulation of macroautophagy
GO:0019079 viral genome replication
GO:0032008 positive regulation of TOR signaling
GO:0043066 negative regulation of apoptotic process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0061462 protein localization to lysosome
GO:0071230 cellular response to amino acid stimulus

Cellular Component:
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0071986 Ragulator complex


-  Descriptions from all associated GenBank mRNAs
  JD160629 - Sequence 141653 from Patent EP1572962.
JD466980 - Sequence 448004 from Patent EP1572962.
AF029890 - Homo sapiens hepatitis B virus X interacting protein (XIP) mRNA, complete cds.
BC062619 - Homo sapiens hepatitis B virus x interacting protein, mRNA (cDNA clone MGC:71071 IMAGE:5190406), complete cds.
AK056679 - Homo sapiens cDNA FLJ32117 fis, clone PANCR1000185.
AK054769 - Homo sapiens cDNA FLJ30207 fis, clone BRACE2001534, moderately similar to HEPATITIS B VIRUS X INTERACTING PROTEIN.
JD564128 - Sequence 545152 from Patent EP1572962.
JD551290 - Sequence 532314 from Patent EP1572962.
JD113001 - Sequence 94025 from Patent EP1572962.
JD250320 - Sequence 231344 from Patent EP1572962.
JD182344 - Sequence 163368 from Patent EP1572962.
JD113148 - Sequence 94172 from Patent EP1572962.
JD506917 - Sequence 487941 from Patent EP1572962.
JD550059 - Sequence 531083 from Patent EP1572962.
AY623819 - Homo sapiens hepatitis B virus x interacting protein (HBXIP) mRNA, complete cds.
HQ257924 - Synthetic construct Homo sapiens clone IMAGE:100072233 hepatitis B virus x interacting protein (HBXIP) gene, encodes complete protein.
KJ893068 - Synthetic construct Homo sapiens clone ccsbBroadEn_02462 HBXIP gene, encodes complete protein.
CR456866 - Homo sapiens full open reading frame cDNA clone RZPDo834H0615D for gene HBXIP, hepatitis B virus x interacting protein; complete cds, incl. stopcodon.
CR542130 - Homo sapiens full open reading frame cDNA clone RZPDo834D1123D for gene HBXIP, hepatitis B virus x interacting protein; complete cds, without stopcodon.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_HBxPathway - Calcium Signaling by HBx of Hepatitis B virus

Reactome (by CSHL, EBI, and GO)

Protein O43504 (Reactome details) participates in the following event(s):

R-HSA-5653936 Formation of ragulator
R-HSA-5653974 Ragulator binds Rag dimers
R-HSA-8952716 SLC38A9 binds Ragulator:Rag dimers
R-HSA-5653968 Ragulator:Rag dimers:SLC38A9 bind mTORC1
R-HSA-165680 Formation of active mTORC1 complex
R-HSA-8952726 SLC38A9 transports L-Arg from lysosomal lumen to cytosol
R-HSA-380979 RHEB in mTORC1:RHEB:GTP hydrolyses GTP
R-HSA-447074 AMPK phosphorylates Raptor in the mTORC1 complex
R-HSA-5672843 AKT1S1 (PRAS40) binds mTORC1
R-HSA-5672017 Rheb in the mTORC1 complex hydrolyses GTP
R-HSA-5672817 Active mTORC1 binds the ULK1 complex
R-HSA-5675790 mTORC1 dissociates from ULK complex
R-HSA-5672824 Phosphorylated AKT1S1:mTORC1 binds YWHAB
R-HSA-377186 Activated Akt1 phosphorylates AKT1S1 (PRAS40)
R-HSA-165692 Phosphorylation of 4E-BP1 by activated mTORC1
R-HSA-165718 mTORC1 phosphorylation of RPS6KB1 (S6K)
R-HSA-5672010 Active mTORC1 phosphorylates ULK1
R-HSA-5673768 p-AMPK:AMP phosphorylates Raptor in the mTORC1 complex
R-HSA-8944454 mTORC1 phosphorylates MAF1
R-HSA-5672828 mTORC1 phosphorylates AKT1S1
R-HSA-165159 mTOR signalling
R-HSA-162582 Signal Transduction
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-1632852 Macroautophagy
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-166208 mTORC1-mediated signalling
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-212436 Generic Transcription Pathway
R-HSA-6807070 PTEN Regulation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-74160 Gene expression (Transcription)
R-HSA-9006925 Intracellular signaling by second messengers

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0C4DGV4, ENST00000602318.1, ENST00000602318.2, ENST00000602318.3, ENST00000602318.4, ENST00000602318.5, HBXIP , LAMTOR5 , LTOR5_HUMAN, NM_001382293, O43504, Q6IBD8, uc327glp.1, uc327glp.2, XIP
UCSC ID: ENST00000602318.6_10
RefSeq Accession: NM_001382293.1
Protein: O43504 (aka LTOR5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.