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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
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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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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

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