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    MIOS meiosis regulator for oocyte development [ Homo sapiens (human) ]

    Gene ID: 54468, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MIOSprovided by HGNC
    Official Full Name
    meiosis regulator for oocyte developmentprovided by HGNC
    Primary source
    HGNC:HGNC:21905
    See related
    Ensembl:ENSG00000164654 MIM:615359; AllianceGenome:HGNC:21905
    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
    MIO; Sea4; Yulink
    Summary
    Predicted to enable metal ion binding activity. Involved in cellular response to amino acid starvation; positive regulation of TORC1 signaling; and protein-containing complex localization. Located in several cellular components, including cytosol; lysosomal membrane; and nucleoplasm. Part of GATOR2 complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 7.9), testis (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIOS in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (7566884..7609144)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (7683757..7726957)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (7606515..7648775)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986764 Neighboring gene collagen type XXVIII alpha 1 chain Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:7478283-7479482 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:7505040-7505723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:7596439-7596940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:7596941-7597440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25642 Neighboring gene MPRA-validated peak6360 silencer Neighboring gene MIOS divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25647 Neighboring gene UBAP1-MVB12-associated (UMA) domain containing 1 Neighboring gene replication protein A3 Neighboring gene 5-azacytidine induced 2 pseudogene

    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. Structural basis for leucine sensing by the Sestrin2-mTORC1 pathway. Saxton RA, et al. Science, 2016 Jan 1. PMID 26586190, Free PMC Article
    2. RNF167 activates mTORC1 and promotes tumorigenesis by targeting CASTOR1 for ubiquitination and degradation. Li T, et al. Nat Commun, 2021 Feb 16. PMID 33594058, Free PMC Article
    3. Sestrin2 is a leucine sensor for the mTORC1 pathway. Wolfson RL, et al. Science, 2016 Jan 1. PMID 26449471, Free PMC Article
    4. TORC1 regulators Iml1/GATOR1 and GATOR2 control meiotic entry and oocyte development in Drosophila. Wei Y, et al. Proc Natl Acad Sci U S A, 2014 Dec 30. PMID 25512509, Free PMC Article
    5. E3 ligase RNF167 and deubiquitinase STAMBPL1 modulate mTOR and cancer progression. Wang D, et al. Mol Cell, 2022 Feb 17. PMID 35114100

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20323

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to amino acid starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to nutrient levels IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in central nervous system myelin formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of TORC1 signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oligodendrocyte progenitor proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of TORC1 signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein-containing complex localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of GATOR2 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of GATOR2 complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    GATOR2 complex protein MIOS
    Names
    GATOR complex protein MIOS
    H_DJ1159O04.1
    WD repeat-containing protein mio
    WUGSC:H_DJ1159O04.1
    missing oocyte, meiosis regulator, homolog

    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_001370076.1 → NP_001357005.1  GATOR2 complex protein MIOS isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC004982
      Consensus CDS
      CCDS43554.1
      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5
      UniProtKB/TrEMBL
      B4DGE7
      Related
      ENSP00000384088.1, ENST00000405785.5
      Conserved Domains (3) summary
      sd00039
      Location:64 → 105
      7WD40; WD40 repeat [structural motif]
      cd16691
      Location:782 → 858
      mRING-H2-C3H3C2_Mio; Modified RING finger, H2 subclass (C3H3C2-type), found in WD repeat-containing protein mio and simialr proteins
      cl29593
      Location:84 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001370077.1 → NP_001357006.1  GATOR2 complex protein MIOS isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC004982
      Consensus CDS
      CCDS43554.1
      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5
      UniProtKB/TrEMBL
      B4DGE7
      Conserved Domains (3) summary
      sd00039
      Location:64 → 105
      7WD40; WD40 repeat [structural motif]
      cd16691
      Location:782 → 858
      mRING-H2-C3H3C2_Mio; Modified RING finger, H2 subclass (C3H3C2-type), found in WD repeat-containing protein mio and simialr proteins
      cl29593
      Location:84 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. NM_001370078.1 → NP_001357007.1  GATOR2 complex protein MIOS isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004982
      UniProtKB/TrEMBL
      B4DGE7
      Conserved Domains (3) summary
      sd00039
      Location:64 → 105
      7WD40; WD40 repeat [structural motif]
      cd16691
      Location:678 → 754
      mRING-H2-C3H3C2_Mio; Modified RING finger, H2 subclass (C3H3C2-type), found in WD repeat-containing protein mio and simialr proteins
      cl29593
      Location:84 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. NM_001370080.1 → NP_001357009.1  GATOR2 complex protein MIOS isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC004982
      Consensus CDS
      CCDS43554.1
      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5
      UniProtKB/TrEMBL
      B4DGE7
      Conserved Domains (3) summary
      sd00039
      Location:64 → 105
      7WD40; WD40 repeat [structural motif]
      cd16691
      Location:782 → 858
      mRING-H2-C3H3C2_Mio; Modified RING finger, H2 subclass (C3H3C2-type), found in WD repeat-containing protein mio and simialr proteins
      cl29593
      Location:84 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. NM_019005.4 → NP_061878.3  GATOR2 complex protein MIOS isoform 1

      See identical proteins and their annotated locations for NP_061878.3

      Status: VALIDATED

      Source sequence(s)
      AC004982, AK000330, BC005883, BC068512, DB300609, DB451117
      Consensus CDS
      CCDS43554.1
      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5
      UniProtKB/TrEMBL
      B4DGE7
      Related
      ENSP00000339881.4, ENST00000340080.9
      Conserved Domains (3) summary
      sd00039
      Location:64 → 105
      7WD40; WD40 repeat [structural motif]
      cd16691
      Location:782 → 858
      mRING-H2-C3H3C2_Mio; Modified RING finger, H2 subclass (C3H3C2-type), found in WD repeat-containing protein mio and simialr proteins
      cl29593
      Location:84 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_163250.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004982

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      7566884..7609144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420507.1 → XP_047276463.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    2. XM_047420513.1 → XP_047276469.1  GATOR2 complex protein MIOS isoform X2

    3. XM_047420510.1 → XP_047276466.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    4. XM_047420508.1 → XP_047276464.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    5. XM_047420512.1 → XP_047276468.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    6. XM_047420509.1 → XP_047276465.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    7. XM_047420516.1 → XP_047276472.1  GATOR2 complex protein MIOS isoform X2

    8. XM_047420511.1 → XP_047276467.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    9. XM_047420514.1 → XP_047276470.1  GATOR2 complex protein MIOS isoform X2

    10. XM_047420515.1 → XP_047276471.1  GATOR2 complex protein MIOS isoform X2

    11. XM_047420520.1 → XP_047276476.1  GATOR2 complex protein MIOS isoform X3

    12. XM_024446803.2 → XP_024302571.1  GATOR2 complex protein MIOS isoform X3

      Conserved Domains (2) summary
      sd00039
      Location:64 → 105
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:84 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    13. XM_047420518.1 → XP_047276474.1  GATOR2 complex protein MIOS isoform X3

    14. XM_047420519.1 → XP_047276475.1  GATOR2 complex protein MIOS isoform X3

    15. XM_005249784.5 → XP_005249841.1  GATOR2 complex protein MIOS isoform X3

      Conserved Domains (2) summary
      sd00039
      Location:64 → 105
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:84 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    16. XM_047420522.1 → XP_047276478.1  GATOR2 complex protein MIOS isoform X4

      Related
      ENST00000493227.1

    17. XM_047420521.1 → XP_047276477.1  GATOR2 complex protein MIOS isoform X4

    18. XM_047420523.1 → XP_047276479.1  GATOR2 complex protein MIOS isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      7683757..7726957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358481.1 → XP_054214456.1  GATOR2 complex protein MIOS isoform X2

    2. XM_054358489.1 → XP_054214464.1  GATOR2 complex protein MIOS isoform X3

    3. XM_054358477.1 → XP_054214452.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    4. XM_054358480.1 → XP_054214455.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    5. XM_054358478.1 → XP_054214453.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    6. XM_054358483.1 → XP_054214458.1  GATOR2 complex protein MIOS isoform X2

    7. XM_054358485.1 → XP_054214460.1  GATOR2 complex protein MIOS isoform X2

    8. XM_054358479.1 → XP_054214454.1  GATOR2 complex protein MIOS isoform X1

      UniProtKB/Swiss-Prot
      B2RTV6, O75216, Q7L551, Q9H092, Q9NXC5

    9. XM_054358482.1 → XP_054214457.1  GATOR2 complex protein MIOS isoform X2

    10. XM_054358484.1 → XP_054214459.1  GATOR2 complex protein MIOS isoform X2

    11. XM_054358488.1 → XP_054214463.1  GATOR2 complex protein MIOS isoform X3

    12. XM_054358486.1 → XP_054214461.1  GATOR2 complex protein MIOS isoform X3

    13. XM_054358487.1 → XP_054214462.1  GATOR2 complex protein MIOS isoform X3

    14. XM_054358491.1 → XP_054214466.1  GATOR2 complex protein MIOS isoform X4

    15. XM_054358490.1 → XP_054214465.1  GATOR2 complex protein MIOS isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001370079.1: Suppressed sequence

      Description
      NM_001370079.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXC5.2 GenPept UniProtKB/Swiss-Prot:Q9NXC5

    Gene LinkOut

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

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