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Aliases for MLST8 Gene

Aliases for MLST8 Gene

  • MTOR Associated Protein, LST8 Homolog 2 3 5
  • Mammalian Lethal With SEC13 Protein 8 3 4
  • TORC Subunit LST8 3 4
  • Protein GbetaL 3 4
  • Gable 3 4
  • LST8 3 4
  • GBL 3 4
  • MTOR Associated Protein, LST8 Homolog (S. Cerevisiae) 2
  • Target Of Rapamycin Complex Subunit LST8 3
  • G Protein Beta Subunit Like 2
  • G Protein Beta Subunit-Like 4
  • GbetaL 3
  • MLST8 4
  • POP3 3
  • WAT1 3

External Ids for MLST8 Gene

Previous GeneCards Identifiers for MLST8 Gene

  • GC16P002196
  • GC16P002255
  • GC16P002182
  • GC16P002254

Summaries for MLST8 Gene

GeneCards Summary for MLST8 Gene

MLST8 (MTOR Associated Protein, LST8 Homolog) is a Protein Coding gene. Diseases associated with MLST8 include Benign Familial Neonatal Epilepsy and Childhood Absence Epilepsy. Among its related pathways are Constitutive Signaling by AKT1 E17K in Cancer and RET signaling.

UniProtKB/Swiss-Prot for MLST8 Gene

  • Subunit of both mTORC1 and mTORC2, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at Thr-389, which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, LST8 interacts directly with MTOR and enhances its kinase activity. In nutrient-poor conditions, stabilizes the MTOR-RPTOR interaction and favors RPTOR-mediated inhibition of MTOR activity. mTORC2 is also activated by growth factors, but seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 Ser-473 phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on Thr-308 by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at Ser-422. mTORC2 also modulates the phosphorylation of PRKCA on Ser-657.

Gene Wiki entry for MLST8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLST8 Gene

Genomics for MLST8 Gene

Regulatory Elements for MLST8 Gene

Enhancers for MLST8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G002147 2 FANTOM5 Ensembl ENCODE dbSUPER 23 -48.5 -48458 17.4 CREB3L1 MLX AGO1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 JPT2 ENSG00000261505 LOC105371055 ENSG00000260051 ENSG00000255513 TRAF7 SNORA64 IFT140 ZNF213-AS1 ENSG00000260954
GH16G002204 1.1 ENCODE 21.8 +1.5 1495 2.5 HDGF MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 JPT2 ZNF213-AS1 MLST8 NME3 ERVK13-1 EME2 ENSG00000260051 C16orf91 IFT140 PIR40952
GH16G002121 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.1 -78.7 -78684 8.2 HDGF ATF1 PKNOX1 AGO1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 KLF7 ENSG00000261123 MLST8 ENSG00000261240 TSC2 NME3 DNASE1L2 NUBP2 NTHL1 SLC9A3R2 TBL3
GH16G002211 1.1 ENCODE 9.5 +10.1 10073 5.1 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 PGP BRICD5 MLST8
GH16G002140 1.2 Ensembl ENCODE 8.5 -63.5 -63507 0.7 HDGF ARNT ARID4B DMAP1 ZNF2 ZNF48 ZNF121 ZNF143 REST PPARG MLST8 MIR3180-5 RAB26
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MLST8 on UCSC Golden Path with GeneCards custom track

Promoters for MLST8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082454 1252 1001 HDGF MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Location for MLST8 Gene

Chromosome:
16
Start:
2,204,248 bp from pter
End:
2,209,417 bp from pter
Size:
5,170 bases
Orientation:
Plus strand

Genomic View for MLST8 Gene

Genes around MLST8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLST8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLST8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLST8 Gene

Proteins for MLST8 Gene

  • Protein details for MLST8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVC4-LST8_HUMAN
    Recommended name:
    Target of rapamycin complex subunit LST8
    Protein Accession:
    Q9BVC4
    Secondary Accessions:
    • B3KMM4
    • B4DY00
    • D3DU88
    • Q5M800
    • Q86Y18
    • Q8WUI5
    • Q9HA66
    • Q9UJV6

    Protein attributes for MLST8 Gene

    Size:
    326 amino acids
    Molecular mass:
    35876 Da
    Quaternary structure:
    • Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR, AKT1S1/PRAS40 and DEPTOR. mTORC1 binds to and is inhibited by FKBP12-rapamycin. Part of the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PRR5, RICTOR, MAPKAP1 and DEPTOR. Contrary to mTORC1, mTORC2 does not bind to and is not sensitive to FKBP12-rapamycin. Interacts directly with MTOR and RPTOR. Interacts with RHEB.
    SequenceCaution:
    • Sequence=EAW85539.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MLST8 Gene

    Alternative splice isoforms for MLST8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLST8 Gene

Post-translational modifications for MLST8 Gene

  • Ubiquitination at posLast=8686, Lys245, and posLast=305305
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MLST8 (LST8)
  • Cloud-Clone Corp. Antibodies for MLST8

No data available for DME Specific Peptides for MLST8 Gene

Domains & Families for MLST8 Gene

Suggested Antigen Peptide Sequences for MLST8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVC4

UniProtKB/Swiss-Prot:

LST8_HUMAN :
  • Belongs to the WD repeat LST8 family.
Family:
  • Belongs to the WD repeat LST8 family.
genes like me logo Genes that share domains with MLST8: view

Function for MLST8 Gene

Molecular function for MLST8 Gene

UniProtKB/Swiss-Prot Function:
Subunit of both mTORC1 and mTORC2, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at Thr-389, which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, LST8 interacts directly with MTOR and enhances its kinase activity. In nutrient-poor conditions, stabilizes the MTOR-RPTOR interaction and favors RPTOR-mediated inhibition of MTOR activity. mTORC2 is also activated by growth factors, but seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 Ser-473 phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on Thr-308 by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at Ser-422. mTORC2 also modulates the phosphorylation of PRKCA on Ser-657.

Gene Ontology (GO) - Molecular Function for MLST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12408816
GO:0043539 protein serine/threonine kinase activator activity IDA 12718876
genes like me logo Genes that share ontologies with MLST8: view
genes like me logo Genes that share phenotypes with MLST8: view

Animal Models for MLST8 Gene

MGI Knock Outs for MLST8:

Animal Model Products

  • Taconic Biosciences Mouse Models for MLST8

CRISPR Products

miRNA for MLST8 Gene

miRTarBase miRNAs that target MLST8

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MLST8 Gene

Localization for MLST8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLST8 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLST8 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MLST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0031931 TORC1 complex IDA 12718876
GO:0031932 TORC2 complex IDA 24036451
genes like me logo Genes that share ontologies with MLST8: view

Pathways & Interactions for MLST8 Gene

genes like me logo Genes that share pathways with MLST8: view

Gene Ontology (GO) - Biological Process for MLST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007050 cell cycle arrest TAS --
GO:0016236 macroautophagy TAS --
GO:0016241 regulation of macroautophagy TAS --
GO:0030838 positive regulation of actin filament polymerization IEA --
GO:0031295 T cell costimulation TAS --
genes like me logo Genes that share ontologies with MLST8: view

No data available for SIGNOR curated interactions for MLST8 Gene

Drugs & Compounds for MLST8 Gene

(7) Drugs for MLST8 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AZD8055 Pharma inhibitor MTOR inhibitor, Kinase Inhibitors 0
MLN0128 Pharma inhibitor Kinase Inhibitors 0
OSI-027 Pharma inhibitor MTORC1/ mTORC2 inhibitor, Kinase Inhibitors 0

(2) Additional Compounds for MLST8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MLST8: view

Transcripts for MLST8 Gene

Unigene Clusters for MLST8 Gene

MTOR associated protein, LST8 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MLST8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c ^ 11a ·
SP1: - - - - - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - - - - - -
SP6: - - - -
SP7: - -
SP8: - - - - - - - -
SP9: - - - - -
SP10: - - - -
SP11: - - - - -
SP12: - - - - -
SP13: - -
SP14: - -
SP15: - - -
SP16: - - - - - -
SP17: - - - - - - -
SP18: - -
SP19: - - - - -
SP20:
SP21: - - - -

ExUns: 11b · 11c · 11d ^ 12a · 12b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for MLST8 Gene

GeneLoc Exon Structure for
MLST8
ECgene alternative splicing isoforms for
MLST8

Expression for MLST8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MLST8 Gene

Protein differential expression in normal tissues from HIPED for MLST8 Gene

This gene is overexpressed in Bone (52.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MLST8 Gene



Protein tissue co-expression partners for MLST8 Gene

NURSA nuclear receptor signaling pathways regulating expression of MLST8 Gene:

MLST8

SOURCE GeneReport for Unigene cluster for MLST8 Gene:

Hs.29203

mRNA Expression by UniProt/SwissProt for MLST8 Gene:

Q9BVC4-LST8_HUMAN
Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, heart and kidney.

Evidence on tissue expression from TISSUES for MLST8 Gene

  • Nervous system(4.6)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with MLST8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MLST8 Gene

Orthologs for MLST8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MLST8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLST8 34 35
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia MLST8 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLST8 34 35
  • 91.46 (n)
dog
(Canis familiaris)
Mammalia MLST8 34 35
  • 90.39 (n)
rat
(Rattus norvegicus)
Mammalia Mlst8 34
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Mlst8 34 16 35
  • 87.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MLST8 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLST8 34 35
  • 84.66 (n)
lizard
(Anolis carolinensis)
Reptilia MLST8 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mlst8 34
  • 79.96 (n)
Str.15148 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68713 34
zebrafish
(Danio rerio)
Actinopterygii mlst8 34 35
  • 78.22 (n)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001036 34
  • 61.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lst8 34 35
  • 58.25 (n)
worm
(Caenorhabditis elegans)
Secernentea C10H11.8 35
  • 22 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL009C 34
  • 53.69 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04840g 34
  • 51.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LST8 34 35 37
  • 50.78 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G18140 34
  • 51.39 (n)
rice
(Oryza sativa)
Liliopsida Os03g0681700 34
  • 52.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04281 34
  • 52.94 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pop3 34
  • 51.33 (n)
Species where no ortholog for MLST8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MLST8 Gene

ENSEMBL:
Gene Tree for MLST8 (if available)
TreeFam:
Gene Tree for MLST8 (if available)

Paralogs for MLST8 Gene

(1) SIMAP similar genes for MLST8 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with MLST8: view

No data available for Paralogs for MLST8 Gene

Variants for MLST8 Gene

Sequence variations from dbSNP and Humsavar for MLST8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000516908 -- 2,207,452(+) GCTTT(C/T)CCCAT intron-variant, nc-transcript-variant, downstream-variant-500B
rs1001099862 -- 2,203,628(+) ATTCA(A/C)GGGAC upstream-variant-2KB
rs1001207212 -- 2,207,513(+) CTCCC(A/G)ATGGC intron-variant, nc-transcript-variant
rs1001269088 -- 2,207,665(+) TCCCC(C/G)TCCCT intron-variant, nc-transcript-variant
rs1001393965 -- 2,207,640(+) TGACA(-/CACT)CACTC intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for MLST8 Gene

Variant ID Type Subtype PubMed ID
dgv4859n54 CNV loss 21841781
dgv4861n54 CNV loss 21841781
dgv4863n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1052260 CNV gain 25217958
nsv1711 CNV insertion 18451855
nsv457351 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv571200 CNV loss 21841781
nsv952902 CNV deletion 24416366

Variation tolerance for MLST8 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MLST8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLST8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLST8 Gene

Disorders for MLST8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MLST8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
benign familial neonatal epilepsy
  • benign familial neonatal seizures
childhood absence epilepsy
  • absence seizure
- elite association - COSMIC cancer census association via MalaCards
Search MLST8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MLST8

Human Genome Epidemiology (HuGE) Navigator
MLST8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLST8
genes like me logo Genes that share disorders with MLST8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MLST8 Gene

Publications for MLST8 Gene

  1. Identification of Protor as a novel Rictor-binding component of mTOR complex-2. (PMID: 17461779) Pearce L.R. … Alessi D.R. (Biochem. J. 2007) 3 4 64
  2. Rheb binds and regulates the mTOR kinase. (PMID: 15854902) Long X. … Avruch J. (Curr. Biol. 2005) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Mammalian TOR complex 2 controls the actin cytoskeleton and is rapamycin insensitive. (PMID: 15467718) Jacinto E. … Hall M.N. (Nat. Cell Biol. 2004) 3 4 64
  5. GbetaL, a positive regulator of the rapamycin-sensitive pathway required for the nutrient-sensitive interaction between raptor and mTOR. (PMID: 12718876) Kim D.-H. … Sabatini D.M. (Mol. Cell 2003) 3 4 64

Products for MLST8 Gene

  • Addgene plasmids for MLST8

Sources for MLST8 Gene

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