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    MICOS10 mitochondrial contact site and cristae organizing system subunit 10 [ Homo sapiens (human) ]

    Gene ID: 440574, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MICOS10provided by HGNC
    Official Full Name
    mitochondrial contact site and cristae organizing system subunit 10provided by HGNC
    Primary source
    HGNC:HGNC:32068
    See related
    Ensembl:ENSG00000173436 MIM:616574; AllianceGenome:HGNC:32068
    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
    MIO10; Mic10; MINOS1; C1orf151
    Summary
    Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in colon (RPKM 13.8), kidney (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MICOS10 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19596979..19629820)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19420423..19453202)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19923473..19956314)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene MPRA-validated peak99 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19896756-19897005 Neighboring gene MICOS10 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 305 Neighboring gene MICOS10-NBL1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 357 Neighboring gene ribosomal protein S14 pseudogene 3 Neighboring gene MPRA-validated peak101 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19962230-19962437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19969817-19970652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19976919-19977536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 359 Neighboring gene NBL1, DAN family BMP antagonist Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19991190-19992162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19992163-19993133 Neighboring gene 5-hydroxytryptamine receptor 6

    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. Uniform nomenclature for the mitochondrial contact site and cristae organizing system. Pfanner N, et al. J Cell Biol, 2014 Mar 31. PMID 24687277, Free PMC Article
    2. Listeria monocytogenes Exploits Mitochondrial Contact Site and Cristae Organizing System Complex Subunit Mic10 To Promote Mitochondrial Fragmentation and Cellular Infection. Carvalho F, et al. mBio, 2020 Feb 4. PMID 32019800, Free PMC Article
    3. Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes. Urbach J, et al. Biochim Biophys Acta Biomembr, 2021 Dec 1. PMID 34271005
    4. APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria. Weber TA, et al. PLoS One, 2013. PMID 23704930, Free PMC Article
    5. Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins. Pape JK, et al. Proc Natl Acad Sci U S A, 2020 Aug 25. PMID 32788360, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes.
      Title: Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes.
    2. Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.
      Title: Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.
    3. Listeria monocytogenes Exploits Mitochondrial Contact Site and Cristae Organizing System Complex Subunit Mic10 To Promote Mitochondrial Fragmentation and Cellular Infection.
      Title: Listeria monocytogenes Exploits Mitochondrial Contact Site and Cristae Organizing System Complex Subunit Mic10 To Promote Mitochondrial Fragmentation and Cellular Infection.
    4. APOOL is a cardiolipin-binding component of the Mitofilin/MINOS protein complex.
      Title: APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria.
    5. Proteomic analyses reveal MINOS1/Mio10 as a novel constituent of Mitofilin/Fcj1 complexes in human and yeast mitochondria
      Title: MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
    EBI GWAS Catalog

    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

    • FLJ36999, FLJ75158

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cristae formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cristae formation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in inner mitochondrial membrane organization IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MIB complex HDA PubMed 
    part_of MICOS complex HDA PubMed 
    part_of MICOS complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of SAM complex HDA PubMed 
    located_in mitochondrial crista junction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    MICOS complex subunit MIC10
    Names
    RP5-1056L3.2
    UPF0327 protein C1orf151
    mitochondrial inner membrane organizing system 1
    mitochondrial inner membrane organizing system protein 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_001032363.4 → NP_001027535.1  MICOS complex subunit MIC10 isoform a

      See identical proteins and their annotated locations for NP_001027535.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AL031727, BC070388, DA523181, DB323148
      Consensus CDS
      CCDS30620.1
      UniProtKB/Swiss-Prot
      Q5TGZ0, Q96G68
      UniProtKB/TrEMBL
      R4GNA1
      Related
      ENSP00000325562.6, ENST00000322753.7
      Conserved Domains (1) summary
      pfam04418
      Location:1 → 62
      DUF543; Domain of unknown function (DUF543)

    2. NM_001204082.2 → NP_001191011.1  MICOS complex subunit MIC10 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AL031727, BM784596, DA523181, DB323148
      Consensus CDS
      CCDS72719.1
      UniProtKB/TrEMBL
      A0A087WU07
      Related
      ENSP00000478278.1, ENST00000617872.4
      Conserved Domains (1) summary
      pfam04418
      Location:2 → 46
      DUF543; Domain of unknown function (DUF543)

    3. NM_001204083.2 → NP_001191012.1  MICOS complex subunit MIC10 isoform c

      See identical proteins and their annotated locations for NP_001191012.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform c, which is longer and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL031727, CB157536, DA523181, DB323148
      Conserved Domains (1) summary
      pfam04418
      Location:1 → 62
      DUF543; Domain of unknown function (DUF543)

    RNA

    1. NR_033757.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL031727, DA523181, DA793500, DB323148

    2. NR_033758.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL031727, BC009927, DA523181, DB323148

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      19596979..19629820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      19420423..19453202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TGZ0.1 GenPept UniProtKB/Swiss-Prot:Q5TGZ0

    Gene LinkOut

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

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