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    MIX23 mitochondrial matrix import factor 23 [ Homo sapiens (human) ]

    Gene ID: 131076, updated on 22-Apr-2024

    Summary

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    Official Symbol
    MIX23provided by HGNC
    Official Full Name
    mitochondrial matrix import factor 23provided by HGNC
    Primary source
    HGNC:HGNC:31136
    See related
    Ensembl:ENSG00000160124 MIM:620713; AllianceGenome:HGNC:31136
    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
    CCDC58
    Summary
    Predicted to be located in mitochondrial intermembrane space. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 9.4), colon (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122359591..122383231, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (125079165..125102783, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122078438..122102078, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20366 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene cystatin A Neighboring gene MPRA-validated peak4796 silencer Neighboring gene HNF4 motif-containing MPRA enhancer 1/2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:122102840-122103340 Neighboring gene family with sequence similarity 162 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122134889-122135706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122135707-122136522 Neighboring gene WDR5B divergent transcript Neighboring gene WD repeat domain 5B Neighboring gene karyopherin subunit alpha 1

    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. The intermembrane space protein Mix23 is a novel stress-induced mitochondrial import factor. Zöller E, et al. J Biol Chem, 2020 Oct 23. PMID 32826315, Free PMC Article
    2. Common genetic variants associate with serum phosphorus concentration. Kestenbaum B, et al. J Am Soc Nephrol, 2010 Jul. PMID 20558539, Free PMC Article
    3. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. O'Seaghdha CM, et al. Hum Mol Genet, 2010 Nov 1. PMID 20705733, Free PMC Article
    4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
    5. Receptor-mediated clustering of FIP200 bypasses the role of LC3 lipidation in autophagy. Ohnstad AE, et al. EMBO J, 2020 Dec 15. PMID 33226137, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC58 is a potential biomarker for diagnosis, prognosis, immunity, and genomic heterogeneity in pan-cancer.
      Title: CCDC58 is a potential biomarker for diagnosis, prognosis, immunity, and genomic heterogeneity in pan-cancer.
    2. Comprehensive pan-cancer analysis reveals CCDC58 as a carcinogenic factor related to immune infiltration.
      Title: Comprehensive pan-cancer analysis reveals CCDC58 as a carcinogenic factor related to immune infiltration.
    3. 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
    Common genetic variants associate with serum phosphorus concentration.
    EBI GWAS Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ33273

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein MIX23
    Names
    coiled-coil domain containing 58
    coiled-coil domain-containing protein 58

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001017928.4 → NP_001017928.1  protein MIX23 isoform 1

      See identical proteins and their annotated locations for NP_001017928.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC083798, BC109378, CD683826
      Consensus CDS
      CCDS33838.1
      UniProtKB/Swiss-Prot
      Q32LY6, Q4VC31
      UniProtKB/TrEMBL
      H7C525
      Related
      ENSP00000291458.5, ENST00000291458.9
      Conserved Domains (1) summary
      pfam09774
      Location:10 → 134
      Cid2; Caffeine-induced death protein 2

    2. NM_001308326.2 → NP_001295255.1  protein MIX23 isoform 2

      See identical proteins and their annotated locations for NP_001295255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon and uses an alternate start codon, compared to variant 1. It encodes isoform 2 which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC083798, BC109378, CD683826, DA025111
      Consensus CDS
      CCDS77802.1
      UniProtKB/TrEMBL
      C9JQ41, H7C525
      Related
      ENSP00000420248.1, ENST00000479899.5
      Conserved Domains (1) summary
      pfam09774
      Location:4 → 120
      Cid2; Caffeine-induced death protein 2

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      122359591..122383231 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447427.1 → XP_047303383.1  protein MIX23 isoform X4

      Related
      ENSP00000418810.1, ENST00000479414.1

    2. XM_047447424.1 → XP_047303380.1  protein MIX23 isoform X1

    3. XM_047447425.1 → XP_047303381.1  protein MIX23 isoform X2

    4. XM_047447426.1 → XP_047303382.1  protein MIX23 isoform X3

    5. XM_047447428.1 → XP_047303384.1  protein MIX23 isoform X5

    6. XM_017005697.3 → XP_016861186.1  protein MIX23 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      125079165..125102783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345191.1 → XP_054201166.1  protein MIX23 isoform X4

    2. XM_054345188.1 → XP_054201163.1  protein MIX23 isoform X1

    3. XM_054345190.1 → XP_054201165.1  protein MIX23 isoform X3

    4. XM_054345192.1 → XP_054201167.1  protein MIX23 isoform X5

    5. XM_054345189.1 → XP_054201164.1  protein MIX23 isoform X2

    6. XM_054345193.1 → XP_054201168.1  protein MIX23 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4VC31.1 GenPept UniProtKB/Swiss-Prot:Q4VC31

    Gene LinkOut

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

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