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

Gene ID: 440574, updated on 14-Nov-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, Nov 2024]
Expression
Ubiquitous expression in colon (RPKM 13.8), kidney (RPKM 11.9) and 25 other tissues See more
Orthologs
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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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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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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)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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

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