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MEAK7 MTOR associated protein, eak-7 homolog [ Homo sapiens (human) ]

Gene ID: 57707, updated on 28-Oct-2024

Summary

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Official Symbol
MEAK7provided by HGNC
Official Full Name
MTOR associated protein, eak-7 homologprovided by HGNC
Primary source
HGNC:HGNC:29325
See related
Ensembl:ENSG00000140950 MIM:619331; AllianceGenome:HGNC:29325
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EAK7; TLDC1; mEAK-7; KIAA1609
Summary
Involved in several processes, including TOR signaling; positive regulation of protein localization to lysosome; and response to insulin. Located in cytosol; lysosomal membrane; and nuclear lumen. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in placenta (RPKM 6.1), esophagus (RPKM 5.1) and 23 other tissues See more
Orthologs
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Genomic context

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See MEAK7 in Genome Data Viewer
Location:
16q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84476355..84504659, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90542752..90570998, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84509961..84538265, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:84340158-84341357 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:84348057-84348215 Neighboring gene WAP four-disulfide core domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84353071-84353592 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:84393612-84394811 Neighboring gene ATPase secretory pathway Ca2+ transporting 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84492707-84493206 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84494562-84495761 Neighboring gene ATP2C2 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:84512589-84513788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84516869-84517370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84537675-84538175 Neighboring gene uncharacterized LOC124903736 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84538296-84539243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7783 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:84540344-84540580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84540853-84541353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84543104-84543903 Neighboring gene uncharacterized LOC124903735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84547599-84548206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11241

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of mEAK-7 as a human V-ATPase regulator via cryo-EM data mining. Wang L, et al. Proc Natl Acad Sci U S A, 2022 Aug 30. PMID 35994636, Free PMC Article
  2. Molecular basis of mEAK7-mediated human V-ATPase regulation. Wang R, et al. Nat Commun, 2022 Jun 7. PMID 35672408, Free PMC Article
  3. miR‑32‑5p suppresses the proliferation and migration of pancreatic adenocarcinoma cells by targeting TLDC1. Yuan P, et al. Mol Med Rep, 2021 Nov. PMID 34468015, Free PMC Article
  4. 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. Moriya K, et al. PLoS One, 2013. PMID 24223779, Free PMC Article
  5. Mammalian EAK-7 activates alternative mTOR signaling to regulate cell proliferation and migration. Nguyen JT, et al. Sci Adv, 2018 May. PMID 29750193, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of mEAK-7 as a human V-ATPase regulator via cryo-EM data mining.
    Title: Identification of mEAK-7 as a human V-ATPase regulator via cryo-EM data mining.
  2. Molecular basis of mEAK7-mediated human V-ATPase regulation.
    Title: Molecular basis of mEAK7-mediated human V-ATPase regulation.
  3. miR325p suppresses the proliferation and migration of pancreatic adenocarcinoma cells by targeting TLDC1.
    Title: miR‑32‑5p suppresses the proliferation and migration of pancreatic adenocarcinoma cells by targeting TLDC1.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1609, MGC25024

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in TOR signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein localization to lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to amino acid IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to insulin IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to nutrient levels IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in lysosomal membrane HDA PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
MTOR-associated protein MEAK7
Names
TBC/LysM-associated domain containing 1
TBC/LysM-associated domain-containing protein 1
TLD domain containing 1
TLD domain-containing protein 1
mammalian EAK-7
NP_065998.3
XP_005256132.1
XP_016879000.1
XP_047290366.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020947.4 → NP_065998.3  MTOR-associated protein MEAK7

    See identical proteins and their annotated locations for NP_065998.3

    Status: VALIDATED

    Source sequence(s)
    AC022165, AK291237, AK310887
    Consensus CDS
    CCDS32498.1
    UniProtKB/Swiss-Prot
    Q6P9B6, Q8IZ64, Q9HCG3, Q9NTE8
    UniProtKB/TrEMBL
    A8K5C2
    Related
    ENSP00000343635.6, ENST00000343629.11
    Conserved Domains (1) summary
    smart00584
    Location:244 → 412
    TLDc; domain in TBC and LysM domain containing proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    84476355..84504659 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256075.3 → XP_005256132.1  MTOR-associated protein MEAK7 isoform X1

    See identical proteins and their annotated locations for XP_005256132.1

    UniProtKB/Swiss-Prot
    Q6P9B6, Q8IZ64, Q9HCG3, Q9NTE8
    UniProtKB/TrEMBL
    A8K5C2
    Conserved Domains (1) summary
    smart00584
    Location:244 → 412
    TLDc; domain in TBC and LysM domain containing proteins

  2. XM_017023511.2 → XP_016879000.1  MTOR-associated protein MEAK7 isoform X1

    UniProtKB/Swiss-Prot
    Q6P9B6, Q8IZ64, Q9HCG3, Q9NTE8
    UniProtKB/TrEMBL
    A8K5C2
    Conserved Domains (1) summary
    smart00584
    Location:244 → 412
    TLDc; domain in TBC and LysM domain containing proteins

  3. XM_047434410.1 → XP_047290366.1  MTOR-associated protein MEAK7 isoform X1

    UniProtKB/Swiss-Prot
    Q6P9B6, Q8IZ64, Q9HCG3, Q9NTE8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    90542752..90570998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P9B6.2 GenPept UniProtKB/Swiss-Prot:Q6P9B6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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