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    MARCHF5 membrane associated ring-CH-type finger 5 [ Homo sapiens (human) ]

    Gene ID: 54708, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MARCHF5provided by HGNC
    Official Full Name
    membrane associated ring-CH-type finger 5provided by HGNC
    Primary source
    HGNC:HGNC:26025
    See related
    Ensembl:ENSG00000198060 MIM:610637; AllianceGenome:HGNC:26025
    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
    MITOL; MARCH5; RNF153; MARCH-V
    Summary
    MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.2), prostate (RPKM 10.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MARCHF5 in Genome Data Viewer
    Location:
    10q23.32-q23.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (92291167..92353964)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (93173534..93236300)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (94050924..94113721)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cytoplasmic polyadenylation element binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2614 Neighboring gene uncharacterized LOC124902483 Neighboring gene NHP2 ribonucleoprotein pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2615 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:94051286-94051864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94065899-94066610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94066611-94067322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:94072769-94073270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:94107981-94108480 Neighboring gene NANOG hESC enhancer GRCh37_chr10:94110043-94110561 Neighboring gene RNY3 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2616 Neighboring gene uncharacterized LOC124902484 Neighboring gene MARK2 pseudogene 9

    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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    Related articles in PubMed

    1. A mitochondrial ubiquitin ligase MITOL controls cell toxicity of polyglutamine-expanded protein. Sugiura A, et al. Mitochondrion, 2011 Jan. PMID 20851218
    2. Self-clearance mechanism of mitochondrial E3 ligase MARCH5 contributes to mitochondria quality control. Kim SH, et al. FEBS J, 2016 Jan. PMID 26476016
    3. MARCH5 RNA promotes autophagy, migration, and invasion of ovarian cancer cells. Hu J, et al. Autophagy, 2017 Feb. PMID 27875077, Free PMC Article
    4. Mitochondrial E3 ubiquitin ligase MARCHF5 controls BAK apoptotic activity independently of BH3-only proteins. Huang AS, et al. Cell Death Differ, 2023 Mar. PMID 36171332, Free PMC Article
    5. Parkin-mediated ubiquitylation redistributes MITOL/March5 from mitochondria to peroxisomes. Koyano F, et al. EMBO Rep, 2019 Dec 5. PMID 31602805, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MARCH5 promotes hepatocellular carcinoma progression by inducing p53 ubiquitination degradation.
      Title: MARCH5 promotes hepatocellular carcinoma progression by inducing p53 ubiquitination degradation.
    2. PD-1 signaling negatively regulates the common cytokine receptor gamma chain via MARCH5-mediated ubiquitination and degradation to suppress anti-tumor immunity.
      Title: PD-1 signaling negatively regulates the common cytokine receptor γ chain via MARCH5-mediated ubiquitination and degradation to suppress anti-tumor immunity.
    3. A decrease of mitochondrial ubiquitin ligase increases the secretion of matrix metalloproteinase-1 by dermal fibroblasts through the induction of ER stress.
      Title: A decrease of mitochondrial ubiquitin ligase increases the secretion of matrix metalloproteinase-1 by dermal fibroblasts through the induction of ER stress.
    4. MARCH5-mediated downregulation of ACC2 promotes fatty acid oxidation and tumor progression in ovarian cancer.
      Title: MARCH5-mediated downregulation of ACC2 promotes fatty acid oxidation and tumor progression in ovarian cancer.
    5. Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
      Title: Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
    6. Ubiquitin ligase MARCH5 localizes to peroxisomes to regulate pexophagy.
      Title: Ubiquitin ligase MARCH5 localizes to peroxisomes to regulate pexophagy.
    7. The XBP1MARCH5MFN2 Axis Confers Endoplasmic Reticulum Stress Resistance by Coordinating Mitochondrial Fission and Mitophagy in Melanoma.
      Title: The XBP1‒MARCH5‒MFN2 Axis Confers Endoplasmic Reticulum Stress Resistance by Coordinating Mitochondrial Fission and Mitophagy in Melanoma.
    8. MARCH5 requires MTCH2 to coordinate proteasomal turnover of the MCL1:NOXA complex.
      Title: MARCH5 requires MTCH2 to coordinate proteasomal turnover of the MCL1:NOXA complex.
    9. MARCH5-dependent degradation of MCL1/NOXA complexes defines susceptibility to antimitotic drug treatment.
      Title: MARCH5-dependent degradation of MCL1/NOXA complexes defines susceptibility to antimitotic drug treatment.
    10. MARCH5 restores endothelial cell function against ischaemic/hypoxia injury via Akt/eNOS pathway.
      Title: MARCH5 restores endothelial cell function against ischaemic/hypoxia injury via Akt/eNOS pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    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

    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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    Markers

    Homology

    Clone Names

    • FLJ20445

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase MARCHF5
    Names
    E3 ubiquitin-protein ligase MARCH5
    RING-type E3 ubiquitin transferase MARCH5
    RING-type E3 ubiquitin transferase MARCHF5
    membrane associated ring finger 5
    membrane-associated RING finger protein 5
    membrane-associated RING-CH protein V
    membrane-associated ring finger (C3HC4) 5
    mitochondrial ubiquitin ligase
    ring finger protein 153
    NP_060294.1
    XP_047281338.1
    XP_054222122.1

    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_017824.5 → NP_060294.1  E3 ubiquitin-protein ligase MARCHF5

      See identical proteins and their annotated locations for NP_060294.1

      Status: VALIDATED

      Source sequence(s)
      AK000452, BC015480, BE393612
      Consensus CDS
      CCDS7420.1
      UniProtKB/Swiss-Prot
      Q9NX47
      Related
      ENSP00000351813.2, ENST00000358935.3
      Conserved Domains (1) summary
      cd16701
      Location:12 → 72
      RING_CH-C4HC3_MARCH5; RING-CH finger, H2 subclass (C4HC3-type), found in membrane-associated RING-CH5 (MARCH5)

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      92291167..92353964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425382.1 → XP_047281338.1  E3 ubiquitin-protein ligase MARCHF5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      93173534..93236300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366147.1 → XP_054222122.1  E3 ubiquitin-protein ligase MARCHF5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX47.1 GenPept UniProtKB/Swiss-Prot:Q9NX47

    Gene LinkOut

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

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