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    MICOS13 mitochondrial contact site and cristae organizing system subunit 13 [ Homo sapiens (human) ]

    Gene ID: 125988, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MICOS13provided by HGNC
    Official Full Name
    mitochondrial contact site and cristae organizing system subunit 13provided by HGNC
    Primary source
    HGNC:HGNC:33702
    See related
    Ensembl:ENSG00000174917 MIM:616658; AllianceGenome:HGNC:33702
    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
    P117; QIL1; MIC12; MIC13; C19orf70
    Summary
    Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 20.0), testis (RPKM 19.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MICOS13 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5678422..5680516, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5665108..5667202, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5678433..5680527, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:5622792-5623524 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:5623525-5624256 Neighboring gene scaffold attachment factor B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:5648485-5649684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5666846-5667760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5667761-5668675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5668838-5669338 Neighboring gene uncharacterized LOC107985320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9926 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9929 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:5687727-5688226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690083-5690608 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690609-5691134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5691135-5691660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13811 Neighboring gene ribosomal protein L36 Neighboring gene lon peptidase 1, mitochondrial

    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. A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Kishita Y, et al. Mol Genet Genomic Med, 2020 Oct. PMID 32749073, Free PMC Article
    2. Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells. Anand R, et al. PLoS One, 2016. PMID 27479602, Free PMC Article
    3. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Zeharia A, et al. Eur J Hum Genet, 2016 Dec. PMID 27485409, Free PMC Article
    4. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. Guarani V, et al. Elife, 2016 Sep 13. PMID 27623147, Free PMC Article
    5. QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. Gödiker J, et al. J Hum Genet, 2018 Jun. PMID 29618761

    See all (47) 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. Taken together, these data provide the first evidence of altered mitochondrial contact site assembly linked with a human mitochondrial disease and confirm a central role for QIL1 in stable mitochondrial contact site complex formation.
      Title: QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
    3. MIC13 has a fundamental role in crista junction formation and that assembly of respiratory chain supercomplexes is independent of mitochondrial cristae shape.
      Title: Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells.
    4. Mitochondrial hepato-encephalopathy patients were found to be homozygous for the p.(Gly15Glufs*75) variant in the QIL1 . QIL1 deficiency is associated with disassembly of the MICOS complex, aberration of cristae morphology and mitochondrial respiratory dysfunction.
      Title: Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.
    5. we identified QIL1 (C19orf70) as a novel conserved MICOS subunit.
      Title: QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.
    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

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 37
    MedGen: C5193031 OMIM: 618329 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    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 cristae formation IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MICOS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MICOS complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of SAM complex HDA PubMed 
    is_active_in mitochondrial crista junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial crista junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial crista junction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion 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
    MICOS complex subunit MIC13
    Names
    protein QIL1

    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_001308240.2 → NP_001295169.1  MICOS complex subunit MIC13 isoform 1

      See identical proteins and their annotated locations for NP_001295169.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA292888, AC011499, AI300708, AJ707830, CR748109
      Consensus CDS
      CCDS77221.1
      UniProtKB/TrEMBL
      A0A140TA86
      Conserved Domains (1) summary
      pfam15884
      Location:32 → 129
      QIL1; Protein QIL1

    2. NM_001365761.2 → NP_001352690.1  MICOS complex subunit MIC13 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC011499
      Consensus CDS
      CCDS77221.1
      UniProtKB/TrEMBL
      A0A140TA86
      Related
      ENSP00000468723.1, ENST00000587950.5
      Conserved Domains (1) summary
      pfam15884
      Location:32 → 129
      QIL1; Protein QIL1

    3. NM_205767.3 → NP_991330.1  MICOS complex subunit MIC13 isoform 2 precursor

      See identical proteins and their annotated locations for NP_991330.1

      Status: VALIDATED

      Source sequence(s)
      BC009557
      Consensus CDS
      CCDS12143.1
      UniProtKB/Swiss-Prot
      A0A0B4J2A5, K7EKR0, Q5XKP0, Q86YE5
      Related
      ENSP00000309561.3, ENST00000309324.9
      Conserved Domains (1) summary
      pfam15884
      Location:9 → 107
      QIL1; Protein QIL1

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      5678422..5680516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527675.3 → XP_011525977.1  MICOS complex subunit MIC13 isoform X1

      See identical proteins and their annotated locations for XP_011525977.1

      UniProtKB/TrEMBL
      A0A140TA84
      Related
      ENSP00000465739.1, ENST00000590389.5
      Conserved Domains (1) summary
      pfam15884
      Location:32 → 110
      QIL1; Protein QIL1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      5665108..5667202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319748.1 → XP_054175723.1  MICOS complex subunit MIC13 isoform X1

      UniProtKB/TrEMBL
      A0A140TA84
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5XKP0.1 GenPept UniProtKB/Swiss-Prot:Q5XKP0

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