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

    Gene ID: 57707, updated on 14-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 6.1), esophagus (RPKM 5.1) and 23 other tissues See more
    Orthologs
    mouse all
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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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    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)

    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 
    involved_in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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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