Aliases for MEAK7 Gene

Aliases for MEAK7 Gene

  • MTOR Associated Protein, Eak-7 Homolog 2 3 4 5
  • KIAA1609 2 3 4
  • TBC/LysM-Associated Domain-Containing Protein 1 3 4
  • TBC/LysM-Associated Domain Containing 1 2 3
  • TLD Domain-Containing Protein 1 3 4
  • MTOR-Associated Protein MEAK7 3 4
  • TLD Domain Containing 1 2 3
  • Mammalian EAK-7 2 3
  • MEAK-7 2 3
  • TLDC1 3 4
  • MEAK7 5

External Ids for MEAK7 Gene

Previous HGNC Symbols for MEAK7 Gene

  • KIAA1609
  • TLDC1

Summaries for MEAK7 Gene

GeneCards Summary for MEAK7 Gene

MEAK7 (MTOR Associated Protein, Eak-7 Homolog) is a Protein Coding gene. Diseases associated with MEAK7 include Progressive Myoclonus Epilepsy 7 and Martsolf Syndrome. An important paralog of this gene is OXR1.

UniProtKB/Swiss-Prot Summary for MEAK7 Gene

  • Activates an alternative mTOR signaling through RPS6KB2 activation and EIF4EBP1 repression to regulate cell proliferation and migration (PubMed:29750193). Recruits MTOR at the lysosome, essential for MTOR signaling at the lysosome (PubMed:29750193).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEAK7 Gene

Genomics for MEAK7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MEAK7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEAK7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEAK7

Genomic Locations for MEAK7 Gene

Latest Assembly
77,679 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
28,305 bases
Minus strand

(GRCh37/hg19 by Ensembl)
75,959 bases
Minus strand

Genomic View for MEAK7 Gene

Genes around MEAK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEAK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEAK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEAK7 Gene

Proteins for MEAK7 Gene

  • Protein details for MEAK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    MTOR-associated protein MEAK7
    Protein Accession:
    Secondary Accessions:
    • Q8IZ64
    • Q9HCG3
    • Q9NTE8

    Protein attributes for MEAK7 Gene

    456 amino acids
    Molecular mass:
    50994 Da
    Quaternary structure:
    • Interacts (via C-terminal domain) with MTOR and MLST8; the interaction with MTOR increases upon nutrient stimulation.
    • Sequence=BAB13435.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for MEAK7 Gene

Post-translational modifications for MEAK7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MEAK7 Gene

Domains & Families for MEAK7 Gene

Gene Families for MEAK7 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MEAK7 Gene


Suggested Antigen Peptide Sequences for MEAK7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50020 (B4DM09_HUMAN)
  • KIAA1609 protein, isoform CRA_a (D3DUL8_HUMAN)
  • TLD domain-containing protein KIAA1609 (K1609_HUMAN)
genes like me logo Genes that share domains with MEAK7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MEAK7 Gene

Function for MEAK7 Gene

Molecular function for MEAK7 Gene

UniProtKB/Swiss-Prot Function:
Activates an alternative mTOR signaling through RPS6KB2 activation and EIF4EBP1 repression to regulate cell proliferation and migration (PubMed:29750193). Recruits MTOR at the lysosome, essential for MTOR signaling at the lysosome (PubMed:29750193).
UniProtKB/Swiss-Prot Induction:
Addition of nutrients and insulin induces its expression (at protein level).

Phenotypes From GWAS Catalog for MEAK7 Gene

Gene Ontology (GO) - Molecular Function for MEAK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with MEAK7: view
genes like me logo Genes that share phenotypes with MEAK7: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEAK7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MEAK7 Gene

Localization for MEAK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEAK7 Gene

Membrane. Cytoplasm. Lysosome.

Subcellular locations from

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 MEAK7 gene
Compartment Confidence
nucleus 5
lysosome 5
cytosol 4
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MEAK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 24223779
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA 29750193
genes like me logo Genes that share ontologies with MEAK7: view

Pathways & Interactions for MEAK7 Gene

PathCards logo

SuperPathways for MEAK7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MEAK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030334 regulation of cell migration IDA 29750193
GO:0031667 response to nutrient levels IDA 29750193
GO:0031929 TOR signaling IMP 29750193
GO:0032868 response to insulin IDA 29750193
GO:0042127 regulation of cell proliferation IDA 29750193
genes like me logo Genes that share ontologies with MEAK7: view

No data available for Pathways by source and SIGNOR curated interactions for MEAK7 Gene

Drugs & Compounds for MEAK7 Gene

No Compound Related Data Available

Transcripts for MEAK7 Gene

mRNA/cDNA for MEAK7 Gene

21 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEAK7

Alternative Splicing Database (ASD) splice patterns (SP) for MEAK7 Gene

No ASD Table

Relevant External Links for MEAK7 Gene

GeneLoc Exon Structure for

Expression for MEAK7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEAK7

SOURCE GeneReport for Unigene cluster for MEAK7 Gene:


Evidence on tissue expression from TISSUES for MEAK7 Gene

  • Nervous system(4.6)
  • Kidney(4.1)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MEAK7 Gene

Orthologs for MEAK7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MEAK7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TLDC1 30 31
  • 98.9 (n)
(Canis familiaris)
Mammalia TLDC1 30 31
  • 81.61 (n)
(Bos Taurus)
Mammalia TLDC1 30 31
  • 79.05 (n)
(Rattus norvegicus)
Mammalia Tldc1 30
  • 74.86 (n)
(Mus musculus)
Mammalia Tldc1 30 31
  • 73.42 (n)
Meak7 17
(Ornithorhynchus anatinus)
Mammalia TLDC1 31
  • 62 (a)
(Monodelphis domestica)
Mammalia TLDC1 31
  • 46 (a)
(Gallus gallus)
Aves KIAA1609 30 31
  • 64.69 (n)
(Anolis carolinensis)
Reptilia TLDC1 31
  • 53 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tldc1 30
  • 57.76 (n)
(Danio rerio)
Actinopterygii tldc1 30 31
  • 54.98 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5149 31
  • 31 (a)
(Caenorhabditis elegans)
Secernentea eak-7 31
  • 23 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G06260 30
  • 41.98 (n)
(Oryza sativa)
Liliopsida Os12g0157200 30
  • 48.77 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
Species where no ortholog for MEAK7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Vase (Ciona intestinalis)
  • 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 MEAK7 Gene

Gene Tree for MEAK7 (if available)
Gene Tree for MEAK7 (if available)
Evolutionary constrained regions (ECRs) for MEAK7: view image

Paralogs for MEAK7 Gene

Paralogs for MEAK7 Gene

genes like me logo Genes that share paralogs with MEAK7: view

Variants for MEAK7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEAK7 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs113369604 Benign: not provided 84,480,032(-) G/A
rs113746582 Likely Benign: not provided 84,479,954(-) G/A
NM_020947.4(MEAK7):c.1330C>T (p.Arg444Cys)
rs116435096 Benign: not provided 84,487,065(-) G/A
rs138181203 Likely Benign: not provided 84,497,971(-) T/C
NM_020947.4(MEAK7):c.116A>G (p.Asn39Ser)
rs139063434 Benign: not provided 84,495,781(-) A/C
NM_020947.4(MEAK7):c.286T>G (p.Ser96Ala)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MEAK7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MEAK7 Gene

Variant ID Type Subtype PubMed ID
dgv169n21 CNV loss 19592680
dgv3057n100 CNV loss 25217958
dgv5262n54 CNV loss 21841781
dgv549e214 CNV gain 21293372
esv2714828 CNV deletion 23290073
esv2714830 CNV deletion 23290073
esv2714831 CNV deletion 23290073
esv3303917 CNV mobile element insertion 20981092
esv3389512 CNV insertion 20981092
esv3639429 CNV gain 21293372
esv3892928 CNV loss 25118596
esv3892929 CNV loss 25118596
nsv1058049 CNV loss 25217958
nsv1059640 CNV loss 25217958
nsv1061004 CNV loss 25217958
nsv1064308 CNV loss 25217958
nsv1065249 CNV gain 25217958
nsv457600 CNV loss 19166990
nsv483044 CNV gain 15286789
nsv573425 CNV loss 21841781
nsv573430 CNV loss 21841781
nsv573454 CNV loss 21841781
nsv833311 CNV loss 17160897

Variation tolerance for MEAK7 Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.12; 69.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEAK7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEAK7 Gene

Disorders for MEAK7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MEAK7 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search MEAK7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MEAK7

genes like me logo Genes that share disorders with MEAK7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MEAK7 Gene

Publications for MEAK7 Gene

  1. Mammalian EAK-7 activates alternative mTOR signaling to regulate cell proliferation and migration. (PMID: 29750193) Nguyen JT … Krebsbach PH (Science advances 2018) 2 3 4
  2. The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress. (PMID: 26668325) Finelli MJ … Oliver PL (The Journal of biological chemistry 2016) 2 3
  3. Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark, an integral membrane protein of the endoplasmic reticulum. (PMID: 24223779) Moriya K … Utsumi T (PloS one 2013) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3

Products for MEAK7 Gene

Sources for MEAK7 Gene