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

Gene ID: 125988, updated on 7-Jan-2024

Summary

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, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 20.0), testis (RPKM 19.7) and 25 other tissues See more
Orthologs
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Genomic context

See MICOS13 in Genome Data Viewer
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5678422..5680516, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5665108..5667202, complement)
105.20220307 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

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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_001308240.2NP_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:32129
    QIL1; Protein QIL1
  2. NM_001365761.2NP_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:32129
    QIL1; Protein QIL1
  3. NM_205767.3NP_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:9107
    QIL1; Protein QIL1

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_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011527675.3XP_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:32110
    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_054319748.1XP_054175723.1  MICOS complex subunit MIC13 isoform X1

    UniProtKB/TrEMBL
    A0A140TA84