MEAK7 (MTOR associated protein MEAK7)

Gene

• Entrez ID: 57707
• Gene name: MTOR associated protein MEAK7
• Gene symbol: MEAK7
• Synonyms (NCBI Gene): EAK7, KIAA1609, TLDC1, mEAK-7
• Chromosome: 16
• Chromosome location: 16q24.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 29750193, 31515488
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	24223779
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	29750193
GO:0005829	Component	Cytosol	IDA
GO:0006979	Process	Response to oxidative stress	IBA
GO:0016020	Component	Membrane	IDA	24223779
GO:0016020	Component	Membrane	IEA
GO:0030334	Process	Regulation of cell migration	IDA	29750193
GO:0031667	Process	Response to nutrient levels	IDA	29750193
GO:0031929	Process	TOR signaling	IBA
GO:0031929	Process	TOR signaling	IMP	29750193
GO:0032868	Process	Response to insulin	IDA	29750193
GO:0042127	Process	Regulation of cell population proliferation	IDA	29750193
GO:0043200	Process	Response to amino acid	IDA	29750193
GO:0150032	Process	Positive regulation of protein localization to lysosome	IDA	29750193
GO:1900408	Process	Negative regulation of cellular response to oxidative stress	IEA

Other IDs

• MIM: 619331
• HGNC: 29325
• e!Ensembl: ENSG00000140950

Protein

• UniProt ID: Q6P9B6
• Protein name: MTOR-associated protein MEAK7 (MEAK7) (MTOR associated protein, eak-7 homolog) (TBC/LysM-associated domain-containing protein 1) (TLD domain-containing protein 1)
• Protein 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:297501
• PDB: 7U4T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07534	TLD	268 → 412	TLD	Domain

• Sequence:

  MGNSRSRVGRSFCSQFLPEEQAEIDQLFDALSSDKNSPNVSSKSFSLKALQNHVGEALPP
  EMVTRLYDGMRRVDLTGKAKGPSENVSQEQFTASMSHLLKGNSEEKSLMIMKMISATEGP
  VKAREVQKFTEDLVGSVVHVLSHRQELRGWTGKEAPGPNPRVQVLAAQLLSDMKLQDGKR
  LLGPQWLDYDCDRAVIEDWVFRVPHVAIFLSVVICKGFLILCSSLDLTTLVPERQVDQGR
  GFESILDVLSVMYINAQLPREQRHRWCLLFSSELHGHSFSQLCGHITHRGPCVAVLEDHD
  KHVFGGFASCSWEVKPQFQGDNRCFLFSICPSMAVYTHTGYNDHYMYLNHGQQTIPNGLG
  MGGQHNYFGLWVDVDFGKGHSRAKPTCTTYNSPQLSAQENFQFDKMEVWAVGDPSEEQLA
  KGNKSILDADPEAQALLEISGHSRHSEGLREVPDDE

• Sequence length: 456

Pathways

KEGG:

Lysosome

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atherosclerosis	Atherosclerosis	Pubtator	36658621	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37958785	Stimulate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	GWASCAT_DG	20208534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34468015	Associate	★☆☆☆☆ Found in Text Mining only