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] See more...

Aliases for MARCHF5 Gene

Aliases for MARCHF5 Gene

  • Membrane Associated Ring-CH-Type Finger 5 2 3 5
  • Mitochondrial Ubiquitin Ligase 2 3 4
  • MARCH-V 2 3 4
  • MITOL 2 3 4
  • RING-Type E3 Ubiquitin Transferase MARCHF5 3 4
  • Membrane-Associated Ring Finger (C3HC4) 5 2 3
  • Membrane-Associated RING Finger Protein 5 3 4
  • Membrane-Associated RING-CH Protein V 3 4
  • E3 Ubiquitin-Protein Ligase MARCHF5 3 4
  • Ring Finger Protein 153 2 3
  • MARCH5 3 4
  • RNF153 3 4
  • RING-Type E3 Ubiquitin Transferase MARCH5 3
  • E3 Ubiquitin-Protein Ligase MARCH5 3
  • Membrane Associated Ring Finger 5 3
  • RING Finger Protein 153 4
  • EC 2.3.2.27 4
  • FLJ20445 2
  • EC 6.3.2 51
  • MARCHF5 5

External Ids for MARCHF5 Gene

Previous HGNC Symbols for MARCHF5 Gene

  • RNF153
  • MARCH5

Summaries for MARCHF5 Gene

Entrez Gene Summary for MARCHF5 Gene

  • 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]

GeneCards Summary for MARCHF5 Gene

MARCHF5 (Membrane Associated Ring-CH-Type Finger 5) is a Protein Coding gene. Diseases associated with MARCHF5 include Paraneoplastic Polyneuropathy and Optic Atrophy 1.

UniProtKB/Swiss-Prot Summary for MARCHF5 Gene

  • Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1.

Gene Wiki entry for MARCHF5 Gene

Additional gene information for MARCHF5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARCHF5 Gene

Genomics for MARCHF5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MARCHF5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J092289 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.4 386 3.5 SP1 CREB1 CTCF PRDM10 ZNF629 SIX5 IKZF1 NFKBIZ ZNF692 BACH1 CPEB3 MARCHF5 NONHSAG006530.2 NHP2P1 BTAF1 RF00019-010 RNY3P12 IDE
GH10J092238 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.1 -50.6 -50563 6.4 CEBPG SP1 CREB1 GATAD2A PRDM10 ZNF629 REST SIX5 LEF1 ZNF692 CPEB3 MARCHF5 HECTD2 BTAF1 RF00017-735 piR-43107-045
GH10J092100 Enhancer 1.1 Ensembl ENCODE 11.5 -188.8 -188764 3.6 SP1 PRDM10 REST LEF1 RCOR2 POLR2A BACH1 JUND RELA PKNOX1 CPEB3 MARCHF5 ENSG00000252993 TNKS2 piR-34822-046 piR-61945-054 MN298678-010 BTAF1
GH10J092087 Enhancer 1.1 Ensembl ENCODE 11.9 -203.1 -203063 1 GATAD2A CTCF PRDM10 ZNF692 FOXA1 PRDM1 ZNF143 RXRB PATZ1 REST BTAF1 CPEB3 MARCHF5 RF00017-732 ENSG00000252993 MN298678-010
GH10J092112 Enhancer 0.9 Ensembl ENCODE 10.7 -179.6 -179563 3.2 GATAD2A REST FOXA1 RXRB SP1 CEBPA SCRT2 SOX13 CEBPB TCF7 LOC107984254 CPEB3 ENSG00000252993 MARCHF5 BTAF1 SDHCP2 MN298678-010
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARCHF5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARCHF5

Genomic Locations for MARCHF5 Gene

Genomic Locations for MARCHF5 Gene
chr10:92,291,164-92,353,964
(GRCh38/hg38)
Size:
62,801 bases
Orientation:
Plus strand
chr10:94,050,920-94,113,721
(GRCh37/hg19)
Size:
62,802 bases
Orientation:
Plus strand

Genomic View for MARCHF5 Gene

Genes around MARCHF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARCHF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARCHF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARCHF5 Gene

Proteins for MARCHF5 Gene

  • Protein details for MARCHF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX47-MARH5_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MARCHF5
    Protein Accession:
    Q9NX47

    Protein attributes for MARCHF5 Gene

    Size:
    278 amino acids
    Molecular mass:
    31232 Da
    Quaternary structure:
    • Monomer and homodimer. Interacts with MFN1, MFN2, DNM1L and FIS1.
    Miscellaneous:
    • By binding to and ubiquitinating two ALS1 variants of SOD1 (mSOD1 variants Arg-86 and Ala-94) it attenuates their cytotoxicity.

neXtProt entry for MARCHF5 Gene

Selected DME Specific Peptides for MARCHF5 Gene

Q9NX47:
  • KVYFKQQQYL
  • GLDVMERADPLFLL
  • SNLQRTILGGIAFV
  • LGPVVYVLDLADRLISKACPFAAAGIMVGSIYWTAVTYG
  • CWVCFAT
  • AVTYGAVTVMQVVGHK
  • PAEANPLADHVSATRILCGALVFPTIATIVGKLMFS
  • LGKMIRWEDYV

Post-translational modifications for MARCHF5 Gene

  • Autoubiquitinated leading to degradation (short half-life).
  • Ubiquitination at Lys40
  • Modification sites at PhosphoSitePlus

Other Protein References for MARCHF5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MARCHF5 Gene

Gene Families for MARCHF5 Gene

Protein Domains for MARCHF5 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • RINGv
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NX47

UniProtKB/Swiss-Prot:

MARH5_HUMAN :
  • The RING-CH-type zinc finger domain is required for E3 ligase activity.
Domain:
  • The RING-CH-type zinc finger domain is required for E3 ligase activity.
genes like me logo Genes that share domains with MARCHF5: view

No data available for Suggested Antigen Peptide Sequences for MARCHF5 Gene

Function for MARCHF5 Gene

Molecular function for MARCHF5 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for MARCHF5 Gene

Phenotypes From GWAS Catalog for MARCHF5 Gene

Gene Ontology (GO) - Molecular Function for MARCHF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16874301
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051020 GTPase binding IPI 16936636
genes like me logo Genes that share ontologies with MARCHF5: view
genes like me logo Genes that share phenotypes with MARCHF5: view

Animal Models for MARCHF5 Gene

MGI Knock Outs for MARCHF5:
  • Marchf5 Marchf5<tm1a(EUCOMM)Wtsi>

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MARCHF5 Gene

Localization for MARCHF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARCHF5 Gene

Mitochondrion outer membrane. Multi-pass membrane protein. Endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Authors show that the protein can be detected in endoplasmic reticulum (PubMed:14722266). Authors (PubMed:16874301) show its presence only in mitochondria (PubMed:16874301). {ECO:0000269 PubMed:14722266, ECO:0000269 PubMed:16874301}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MARCHF5 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
plasma membrane 3
peroxisome 2
nucleus 2
cytosol 2
lysosome 2
extracellular 1
cytoskeleton 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MARCHF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005741 mitochondrial outer membrane IEA,IDA 16874301
GO:0005783 endoplasmic reticulum IEA,IDA 14722266
GO:0005789 endoplasmic reticulum membrane IEA,IDA 14722266
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with MARCHF5: view

Pathways & Interactions for MARCHF5 Gene

PathCards logo

SuperPathways for MARCHF5 Gene

No Data Available

UniProtKB/Swiss-Prot Q9NX47-MARH5_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MARCHF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 16936636
GO:0016567 protein ubiquitination IEA --
GO:0051865 protein autoubiquitination IDA 16874301
GO:0070585 protein localization to mitochondrion IMP 17606867
GO:0090140 regulation of mitochondrial fission IMP 16874301
genes like me logo Genes that share ontologies with MARCHF5: view

No data available for Pathways by source and SIGNOR curated interactions for MARCHF5 Gene

Drugs & Compounds for MARCHF5 Gene

(3) Drugs for MARCHF5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for MARCHF5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with MARCHF5: view

Transcripts for MARCHF5 Gene

mRNA/cDNA for MARCHF5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MARCHF5 Gene

No ASD Table

Relevant External Links for MARCHF5 Gene

GeneLoc Exon Structure for
MARCHF5

Expression for MARCHF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARCHF5

SOURCE GeneReport for Unigene cluster for MARCHF5 Gene:

Hs.573490

mRNA Expression by UniProt/SwissProt for MARCHF5 Gene:

Q9NX47-MARH5_HUMAN
Tissue specificity: Expressed in brain, heart, liver, lung, spleen, stomach, testis, skeletal and muscle.

Evidence on tissue expression from TISSUES for MARCHF5 Gene

  • Liver(4.4)
  • Nervous system(4.3)
  • Muscle(2.4)
  • Kidney(2.3)
  • Heart(2.3)
  • Skin(2)
genes like me logo Genes that share expression patterns with MARCHF5: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MARCHF5 Gene

Orthologs for MARCHF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for MARCHF5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MARCH5 30 31
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MARCH5 31
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MARCH5 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MARCH5 30 31
  • 95.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MARCH5 30 31
  • 95.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia March5 30
  • 93.05 (n)
Mouse
(Mus musculus)
Mammalia March5 30 31
  • 92.81 (n)
OneToOne
Marchf5 17
Chicken
(Gallus gallus)
Aves MARCH5 30 31
  • 87.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MARCH5 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia march5 30
  • 79.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19345 30
Zebrafish
(Danio rerio)
Actinopterygii march5 30 31
  • 76.8 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG9855 30 31
  • 55.64 (n)
OneToMany
CG17991 31
  • 36 (a)
OneToMany
CG10761 31
  • 32 (a)
OneToMany
CG16781 31
  • 32 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001041 30
  • 53.26 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6753 30
Species where no ortholog for MARCHF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MARCHF5 Gene

ENSEMBL:
Gene Tree for MARCHF5 (if available)
TreeFam:
Gene Tree for MARCHF5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARCHF5: view image

Paralogs for MARCHF5 Gene

No data available for Paralogs for MARCHF5 Gene

Variants for MARCHF5 Gene

Additional dbSNP identifiers (rs#s) for MARCHF5 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARCHF5 Gene

Variant ID Type Subtype PubMed ID
esv2670111 CNV deletion 23128226
esv3624219 CNV loss 21293372
esv3624220 CNV gain 21293372
nsv1046258 CNV gain 25217958

Variation tolerance for MARCHF5 Gene

Residual Variation Intolerance Score: 40.3% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARCHF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARCHF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARCHF5 Gene

Disorders for MARCHF5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MARCHF5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
paraneoplastic polyneuropathy
optic atrophy 1
  • opa1
3-methylglutaconic aciduria, type iii
  • mgca3
optic nerve disease
  • disorder of the second nerve
charcot-marie-tooth disease
  • peroneal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MARCHF5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MARCHF5 Gene

Publications for MARCHF5 Gene

  1. Downregulation of major histocompatibility complex class I by human ubiquitin ligases related to viral immune evasion proteins. (PMID: 14722266) Bartee E … Früh K (Journal of virology 2004) 2 3 4
  2. Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1. (PMID: 20103533) Park YY … Cho H (Journal of cell science 2010) 3 4
  3. Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. (PMID: 19741096) Yonashiro R … Yanagi S (Molecular biology of the cell 2009) 3 4
  4. The mitochondrial E3 ubiquitin ligase MARCH5 is required for Drp1 dependent mitochondrial division. (PMID: 17606867) Karbowski M … Youle RJ (The Journal of cell biology 2007) 3 4
  5. A novel mitochondrial ubiquitin ligase plays a critical role in mitochondrial dynamics. (PMID: 16874301) Yonashiro R … Yanagi S (The EMBO journal 2006) 3 4

Products for MARCHF5 Gene

Sources for MARCHF5 Gene