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

Gene ID: 54468, updated on 3-Apr-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
Involved in cellular response to amino acid starvation; positive regulation of TOR 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, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 7.9), testis (RPKM 7.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7p21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (7566884..7609144)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (7683757..7726957)
105.20220307 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
  • 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. 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
  2. Structural basis for leucine sensing by the Sestrin2-mTORC1 pathway. Saxton RA, et al. Science, 2016 Jan 1. PMID 26586190, 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. E3 ligase RNF167 and deubiquitinase STAMBPL1 modulate mTOR and cancer progression. Wang D, et al. Mol Cell, 2022 Feb 17. PMID 35114100
  5. The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway. Chantranupong L, et al. Cell, 2016 Mar 24. PMID 26972053, Free PMC Article

See all (46) 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 TOR signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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; GATOR complex protein MIOS
Names
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_2023_10

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  GATOR complex protein MIOS isoform X1

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

  15. XM_005249784.5 → XP_005249841.1  GATOR 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  GATOR complex protein MIOS isoform X4

    Related
    ENST00000493227.1

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

  18. XM_047420523.1 → XP_047276479.1  GATOR 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  GATOR complex protein MIOS isoform X2

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

  15. XM_054358490.1 → XP_054214465.1  GATOR 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

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