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

    Gene ID: 79594, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See MUL1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_024544.3NP_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:260341
      PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]
      cd16648
      Location:301340
      mRING-HC-C3HC5_MAPL; Modified RING finger, HC subclass (C3HC5-type), found in mitochondrial-anchored protein ligase (MAPL) and similar proteins
      pfam12483
      Location:97253
      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_011542137.3XP_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:221302
      PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]
      cd16648
      Location:262301
      mRING-HC-C3HC5_MAPL; Modified RING finger, HC subclass (C3HC5-type), found in mitochondrial-anchored protein ligase (MAPL) and similar proteins
      pfam12483
      Location:58214
      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_054338734.1XP_054194709.1  mitochondrial ubiquitin ligase activator of NFKB 1 isoform X1

      UniProtKB/TrEMBL
      B7Z8S4