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Aliases for MUL1 Gene

Aliases for MUL1 Gene

  • Mitochondrial E3 Ubiquitin Protein Ligase 1 2 3 5
  • Growth Inhibition And Death E3 Ligase 2 3 4
  • Ring Finger Protein 218 2 3 4
  • Mitochondrial Ubiquitin Ligase Activator Of NFKB 1 2 3
  • Putative NF-Kappa-B-Activating Protein 266 3 4
  • Mitochondrial-Anchored Protein Ligase 3 4
  • Mitochondria-Anchored Protein Ligase 2 3
  • E3 Ubiquitin-Protein Ligase MUL1 3 4
  • E3 SUMO-Protein Ligase MUL1 3 4
  • C1orf166 3 4
  • RNF218 3 4
  • MULAN 3 4
  • GIDE 3 4
  • MAPL 3 4
  • Mitochondrial Ubiquitin Ligase Activator Of NF-KB 3
  • Chromosome 1 Open Reading Frame 166 2
  • Mitochondrial E3 Ubiquitin Ligase 1 3
  • E3 Ubiquitin Ligase 3
  • EC 6.3.2.- 4
  • EC 6.3.2 61

External Ids for MUL1 Gene

Previous HGNC Symbols for MUL1 Gene

  • C1orf166

Previous GeneCards Identifiers for MUL1 Gene

  • GC01M020699
  • GC01M020825
  • GC01M019072

Summaries for MUL1 Gene

GeneCards Summary for MUL1 Gene

MUL1 (Mitochondrial E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Deubiquitination. GO annotations related to this gene include identical protein binding and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for MUL1 Gene

  • Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. Can ubiquitinate AKT1 preferentially at Lys-284 involving Lys-48-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation. Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the control of mitochondrial morphology. Promotes mitochondrial fragmentation and influences mitochondrial localization. The function may implicate its ability to sumoylate DNM1L. Inhibits cell growth. When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis. Involved in the modulation of innate immune defense against viruses by inhibiting DDX58-dependent antiviral response. Can mediate DDX58 sumoylation and disrupt its polyubiquitination.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUL1 Gene

Genomics for MUL1 Gene

Regulatory Elements for MUL1 Gene

Enhancers for MUL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F020507 0.2 ENCODE 65.4 +0.2 219 1.8 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 CBX5 ZNF143 ZNF207 SP3 MUL1 TMCO4 DDOST FAM43B GC01M020501 PIR53014
GH01F020522 1.3 Ensembl ENCODE 33.7 -14.4 -14376 0.5 ELF3 HDAC1 PKNOX1 ARID4B RAD21 RFX5 ZNF121 ZNF366 ZNF143 CREM MUL1 GC01P020523
GH01F020474 1.5 FANTOM5 Ensembl ENCODE 28.8 +27.1 27100 13.8 PKNOX1 MLX ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF548 FOS PAF1 MUL1 DDOST FAM43B ENSG00000226487 ENSG00000226664 LINC01757 HSPE1P27 CROCCP5 ENSG00000228823 ENSG00000236009
GH01F020472 1.2 Ensembl ENCODE 11.4 +34.9 34880 1.1 BCOR ZBTB2 SAP130 L3MBTL2 NRF1 CHD4 ZMYM3 ZKSCAN1 ZNF664 ZNF316 MUL1 ENSG00000226664 CAMK2N1 LINC01141
GH01F019642 0.9 Ensembl ENCODE 11 +859.5 859498 11.8 HDGF PKNOX1 MLX ARID4B SIN3A ZNF2 YY1 ZNF416 ZNF143 ZNF548 OTUD3 EMC1 HTR6 MUL1 NBL1 GC01M019654
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MUL1 on UCSC Golden Path with GeneCards custom track

Promoters for MUL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000163875 81 1800 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 CBX5 ZNF143 ZNF207 SP3

Genomic Location for MUL1 Gene

Chromosome:
1
Start:
20,499,448 bp from pter
End:
20,508,181 bp from pter
Size:
8,734 bases
Orientation:
Minus strand

Genomic View for MUL1 Gene

Genes around MUL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUL1 Gene

Proteins for MUL1 Gene

  • Protein details for MUL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969V5-MUL1_HUMAN
    Recommended name:
    Mitochondrial ubiquitin ligase activator of NFKB 1
    Protein Accession:
    Q969V5
    Secondary Accessions:
    • B5M497
    • Q7Z431
    • Q9H9B5

    Protein attributes for MUL1 Gene

    Size:
    352 amino acids
    Molecular mass:
    39800 Da
    Quaternary structure:
    • Homooligomer. Interacts with MAP3K7/TAK1. Interacts with UBC9. Interacts with MAVS.

neXtProt entry for MUL1 Gene

Selected DME Specific Peptides for MUL1 Gene

Q969V5:
  • EHKMVWNRTTHLWND
  • PGKCVPYAVIEGAV
  • KSCVFLECGHVCSC

Post-translational modifications for MUL1 Gene

  • Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys 52, Lys 273, and Lys 299
  • Modification sites at PhosphoSitePlus

Other Protein References for MUL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MUL1 Gene

Gene Families for MUL1 Gene

Protein Domains for MUL1 Gene

Suggested Antigen Peptide Sequences for MUL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969V5

UniProtKB/Swiss-Prot:

MUL1_HUMAN :
  • The zinc finger domain is required for E3 ligase activity.
  • Contains 1 RING-type zinc finger.
Domain:
  • The zinc finger domain is required for E3 ligase activity.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with MUL1: view

Function for MUL1 Gene

Molecular function for MUL1 Gene

UniProtKB/Swiss-Prot Function:
Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. Can ubiquitinate AKT1 preferentially at Lys-284 involving Lys-48-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation. Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the control of mitochondrial morphology. Promotes mitochondrial fragmentation and influences mitochondrial localization. The function may implicate its ability to sumoylate DNM1L. Inhibits cell growth. When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis. Involved in the modulation of innate immune defense against viruses by inhibiting DDX58-dependent antiviral response. Can mediate DDX58 sumoylation and disrupt its polyubiquitination.

Enzyme Numbers (IUBMB) for MUL1 Gene

Gene Ontology (GO) - Molecular Function for MUL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 18213395
GO:0004871 signal transducer activity IMP 12761501
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with MUL1: view
genes like me logo Genes that share phenotypes with MUL1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUL1 Gene

Localization for MUL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUL1 Gene

Mitochondrion outer membrane; Multi-pass membrane protein. Peroxisome. Note=Transported in mitochondrion-derived vesicles from the mitochondrion to the peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MUL1 Gene COMPARTMENTS Subcellular localization image for MUL1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 5
cytosol 3
extracellular 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MUL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IMP 24898855
GO:0005741 mitochondrial outer membrane IEA --
GO:0005777 peroxisome IEA,IDA 18207745
genes like me logo Genes that share ontologies with MUL1: view

Pathways & Interactions for MUL1 Gene

genes like me logo Genes that share pathways with MUL1: view

UniProtKB/Swiss-Prot Q969V5-MUL1_HUMAN

  • Pathway: Protein modification; protein sumoylation.
  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MUL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IMP 18207745
GO:0006915 apoptotic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 18591963
GO:0006996 organelle organization IEA --
GO:0007257 activation of JUN kinase activity IDA 18591963
genes like me logo Genes that share ontologies with MUL1: view

No data available for SIGNOR curated interactions for MUL1 Gene

Transcripts for MUL1 Gene

mRNA/cDNA for MUL1 Gene

Unigene Clusters for MUL1 Gene

Mitochondrial E3 ubiquitin protein ligase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: - -
SP3: -

Relevant External Links for MUL1 Gene

GeneLoc Exon Structure for
MUL1
ECgene alternative splicing isoforms for
MUL1

Expression for MUL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MUL1 Gene

This gene is overexpressed in Lung (27.4), Testis (9.3), Placenta (8.2), and Fetal heart (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MUL1 Gene



Protein tissue co-expression partners for MUL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MUL1 Gene:

MUL1

SOURCE GeneReport for Unigene cluster for MUL1 Gene:

Hs.10101

mRNA Expression by UniProt/SwissProt for MUL1 Gene:

Q969V5-MUL1_HUMAN
Tissue specificity: Widely expressed with highest levels in the heart, skeletal muscle, placenta, kidney and liver. Barely detectable in colon and thymus.
genes like me logo Genes that share expression patterns with MUL1: view

Primer Products

No data available for mRNA differential expression in normal tissues for MUL1 Gene

Orthologs for MUL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MUL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUL1 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia MUL1 34 35
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Mul1 34
  • 87.59 (n)
mouse
(Mus musculus)
Mammalia Mul1 34 16 35
  • 86.93 (n)
oppossum
(Monodelphis domestica)
Mammalia MUL1 35
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MUL1 34 35
  • 82.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MUL1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUL1 34 35
  • 73.39 (n)
lizard
(Anolis carolinensis)
Reptilia MUL1 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mul1 34
  • 67.05 (n)
zebrafish
(Danio rerio)
Actinopterygii mul1b 34 35
  • 62.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mul1 35
  • 29 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G63900 34
  • 40.23 (n)
rice
(Oryza sativa)
Liliopsida Os07g0647800 34
  • 41.15 (n)
Species where no ortholog for MUL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MUL1 Gene

ENSEMBL:
Gene Tree for MUL1 (if available)
TreeFam:
Gene Tree for MUL1 (if available)

Paralogs for MUL1 Gene

No data available for Paralogs for MUL1 Gene

Variants for MUL1 Gene

Sequence variations from dbSNP and Humsavar for MUL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1044332 -- 20,499,750(-) CCGTC(A/G)CAGCT utr-variant-3-prime
rs111270978 -- 20,502,810(+) ATTAC(A/C)GGCAT intron-variant
rs111334441 -- 20,505,327(+) CACCT(A/G)TAATC intron-variant
rs111340556 -- 20,499,281(+) GCCTC(C/T)GCATC downstream-variant-500B
rs111373570 -- 20,504,061(+) GACAG(C/G)GTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MUL1 Gene

Variant ID Type Subtype PubMed ID
nsv545731 CNV gain 21841781

Variation tolerance for MUL1 Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUL1 Gene

Disorders for MUL1 Gene

Relevant External Links for MUL1

Genetic Association Database (GAD)
MUL1
Human Genome Epidemiology (HuGE) Navigator
MUL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUL1

No disorders were found for MUL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MUL1 Gene

Publications for MUL1 Gene

  1. Genome-wide and functional annotation of human E3 ubiquitin ligases identifies MULAN, a mitochondrial E3 that regulates the organelle's dynamics and signaling. (PMID: 18213395) Li W. … Joazeiro C.A.P. (PLoS ONE 2008) 2 3 4 64
  2. GIDE is a mitochondrial E3 ubiquitin ligase that induces apoptosis and slows growth. (PMID: 18591963) Zhang B. … Shu H.-B. (Cell Res. 2008) 2 3 4 64
  3. Cargo-selected transport from the mitochondria to peroxisomes is mediated by vesicular carriers. (PMID: 18207745) Neuspiel M. … McBride H.M. (Curr. Biol. 2008) 2 3 4 64
  4. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PMID: 12761501) Matsuda A. … Sugano S. (Oncogene 2003) 2 3 4 64
  5. Mitochondrially localised MUL1 is a novel modulator of antiviral signaling. (PMID: 23399697) Jenkins K. … Mansell A. (Immunol. Cell Biol. 2013) 3 4 64

Products for MUL1 Gene

Sources for MUL1 Gene

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