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    MUL1 mitochondrial E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

    Gene ID: 79594, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MUL1provided by HGNC
    Official Full Name
    mitochondrial E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC:HGNC:25762
    See related
    Ensembl:ENSG00000090432 MIM:612037; AllianceGenome:HGNC:25762
    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
    GIDE; MAPL; MULAN; RNF218; C1orf166
    Summary
    Enables several functions, including p53 binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like protein transferase activity. Involved in several processes, including negative regulation of defense response; positive regulation of cellular protein metabolic process; and regulation of mitochondrion organization. Located in several cellular components, including mitochondrion; neuronal cell body; and peroxisome. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 8.0), heart (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (20499448..20508151, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (20324399..20333109, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20825941..20834644, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20810004-20810938 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:20822193-20823392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20833973-20834972 Neighboring gene ribosomal protein S4X pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20878100-20878960 Neighboring gene family with sequence similarity 43 member B

    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. A new functional role of mitochondria-anchored protein ligase in peroxisome morphology in mammalian cells. Mohanty A, et al. J Cell Biochem, 2021 Nov. PMID 34322908
    2. MUL1 gene polymorphisms and Parkinson's disease risk. Taximaimaiti R, et al. Acta Neurol Scand, 2019 May. PMID 30793286
    3. Solution structure of MUL1-RING domain and its interaction with p53 transactivation domain. Lee MS, et al. Biochem Biophys Res Commun, 2019 Aug 20. PMID 31235254
    4. HSPA5 negatively regulates lysosomal activity through ubiquitination of MUL1 in head and neck cancer. Kim SY, et al. Autophagy, 2018. PMID 29260979, Free PMC Article
    5. Ubiquitination-dependent degradation of p73 by the mitochondrial E3 ubiquitin ligase Hades. Min B, et al. Biochem Biophys Res Commun, 2015 Nov 13. PMID 26435500

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A new functional role of mitochondria-anchored protein ligase in peroxisome morphology in mammalian cells.
      Title: A new functional role of mitochondria-anchored protein ligase in peroxisome morphology in mammalian cells.
    2. A risk signature of three autophagy-related genes for predicting lower grade glioma survival is associated with tumor immune microenvironment.
      Title: A risk signature of three autophagy-related genes for predicting lower grade glioma survival is associated with tumor immune microenvironment.
    3. Mitochondrial MUL1 E3 ubiquitin ligase regulates Hypoxia Inducible Factor (HIF-1alpha) and metabolic reprogramming by modulating the UBXN7 cofactor protein.
      Title: Mitochondrial MUL1 E3 ubiquitin ligase regulates Hypoxia Inducible Factor (HIF-1α) and metabolic reprogramming by modulating the UBXN7 cofactor protein.
    4. These results provide a molecular basis for the novel recognition mechanism of the p53-transactivation domain substrate by the MUL1-RING domain.
      Title: Solution structure of MUL1-RING domain and its interaction with p53 transactivation domain.
    5. The three-dimensional structures of MUL1-RING and of its complex with the cognate E2 enzyme has been determined.
      Title: The RING domain of mitochondrial E3 ubiquitin ligase 1 and its complex with Ube2D2: crystallization and X-ray diffraction.
    6. The allele T in the rs529974(+) MUL1 gene was susceptible to Parkinson's disease
      Title: MUL1 gene polymorphisms and Parkinson's disease risk.
    7. HSPA5 negatively regulates lysosomal activity through ubiquitination of MUL1 in head and neck cancer
      Title: HSPA5 negatively regulates lysosomal activity through ubiquitination of MUL1 in head and neck cancer.
    8. Data demonstrate a clear role for MAPL and mitochondrial SUMOylation in the activation of RIG-I, a modification essential for the mitochondrial antiviral signaling response.
      Title: The dynamic interacting landscape of MAPL reveals essential functions for SUMOylation in innate immunity.
    9. MULAN regulates NF-kappaappaB activation to protect cells from endoplasmic reticulum stress-induced apoptosis.
      Title: Mitochondrial ubiquitin ligase activator of NF-κB regulates NF-κB signaling in cells subjected to ER stress.
    10. MUL1 ubiquitinates ULK1 and regulates selenite-induced mitophagy
      Title: Mitochondrial outer-membrane E3 ligase MUL1 ubiquitinates ULK1 and regulates selenite-induced mitophagy.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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

    • FLJ12875

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables p53 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to exogenous dsRNA IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of chemokine (C-C motif) ligand 5 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of defense response to virus by host IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of mitochondrial fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in positive regulation of dendrite extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein sumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein sumoylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axon IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in neuronal cell body IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial ubiquitin ligase activator of NFKB 1
    Names
    E3 SUMO-protein ligase MUL1
    E3 ubiquitin ligase
    E3 ubiquitin-protein ligase MUL1
    RING-type E3 ubiquitin transferase NFKB 1
    growth inhibition and death E3 ligase
    mitochondria-anchored protein ligase
    mitochondrial E3 ubiquitin ligase 1
    mitochondrial ubiquitin ligase activator of NF-kB
    mitochondrial-anchored protein ligase
    protein Hades
    putative NF-kappa-B-activating protein 266
    ring finger protein 218
    NP_078820.2
    XP_011540439.1
    XP_054194709.1

    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_024544.3 → NP_078820.2  mitochondrial ubiquitin ligase activator of NFKB 1

      See identical proteins and their annotated locations for NP_078820.2

      Status: VALIDATED

      Source sequence(s)
      AL391357, BC014010
      Consensus CDS
      CCDS208.1
      UniProtKB/Swiss-Prot
      B5M497, Q7Z431, Q969V5, Q9H9B5
      Related
      ENSP00000264198.3, ENST00000264198.5
      Conserved Domains (3) summary
      COG5574
      Location:260 → 341
      PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]
      cd16648
      Location:301 → 340
      mRING-HC-C3HC5_MAPL; Modified RING finger, HC subclass (C3HC5-type), found in mitochondrial-anchored protein ligase (MAPL) and similar proteins
      pfam12483
      Location:97 → 253
      GIDE; E3 Ubiquitin ligase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      20499448..20508151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542137.3 → XP_011540439.1  mitochondrial ubiquitin ligase activator of NFKB 1 isoform X1

      See identical proteins and their annotated locations for XP_011540439.1

      UniProtKB/TrEMBL
      B7Z8S4
      Conserved Domains (3) summary
      COG5574
      Location:221 → 302
      PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]
      cd16648
      Location:262 → 301
      mRING-HC-C3HC5_MAPL; Modified RING finger, HC subclass (C3HC5-type), found in mitochondrial-anchored protein ligase (MAPL) and similar proteins
      pfam12483
      Location:58 → 214
      GIDE; E3 Ubiquitin ligase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      20324399..20333109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338734.1 → XP_054194709.1  mitochondrial ubiquitin ligase activator of NFKB 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969V5.1 GenPept UniProtKB/Swiss-Prot:Q969V5

    Gene LinkOut

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

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