• Gene id: 79594

Gene Summary

• Gene Symbol: MUL1   Gene   UCSC   Ensembl
• Aliases: C1orf166, GIDE, MAPL, MULAN, RNF218
• Gene name: mitochondrial E3 ubiquitin protein ligase 1
• Alternate names: mitochondrial ubiquitin ligase activator of NFKB 1, 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, mitoch,
• Gene location: 1p36.12 (20508482: 20499447)     Exons: 4     NC_000001.11
• OMIM: 602953

Protein Summary

• Protein general information: Q969V5  
  • Name: Mitochondrial ubiquitin ligase activator of NFKB 1 (EC 2.3.2.27) (E3 SUMO protein ligase MUL1) (E3 ubiquitin protein ligase MUL1) (Growth inhibition and death E3 ligase) (Mitochondrial anchored protein ligase) (MAPL) (Putative NF kappa B activating protei
  • Length: 352  
  • Mass: 39800
  • Tissue specificity: Widely expressed with highest levels in the heart, skeletal muscle, placenta, kidney and liver. Barely detectable in colon and thymus. {ECO
• Sequence:

  MESGGRPSLCQFILLGTTSVVTAALYSVYRQKARVSQELKGAKKVHLGEDLKSILSEAPGKCVPYAVIEGAVRSV
  KETLNSQFVENCKGVIQRLTLQEHKMVWNRTTHLWNDCSKIIHQRTNTVPFDLVPHEDGVDVAVRVLKPLDSVDL
  GLETVYEKFHPSIQSFTDVIGHYISGERPKGIQETEEMLKVGATLTGVGELVLDNNSVRLQPPKQGMQYYLSSQD
  FDSLLQRQESSVRLWKVLALVFGFATCATLFFILRKQYLQRQERLRLKQMQEEFQEHEAQLLSRAKPEDRESLKS
  ACVVCLSSFKSCVFLECGHVCSCTECYRALPEPKKCPICRQAITRVIPLYNS

• Structural information:
  • Interpro: IPR022170  IPR001841  IPR013083  
  • Prosite: PS50089
  • PDB: 6K2K
  • PDBsum: 6K2K
  • STRING: ENSP00000264198
• Other Databases: GeneCards:  MUL1  Malacards:  MUL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030424	axon	IMP	cellular component
GO:0010821	regulation of mitochondrion organization	IMP	biological process
GO:0031648	protein destabilization	IMP	biological process
GO:0005739	mitochondrion	IMP	cellular component
GO:0043025	neuronal cell body	IMP	cellular component
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0071360	cellular response to exogenous dsRNA	IDA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IDA	biological process
GO:0071650	negative regulation of chemokine (C-C motif) ligand 5 production	IMP	biological process
GO:0050689	negative regulation of defense response to virus by host	IMP	biological process
GO:0045824	negative regulation of innate immune response	IMP	biological process
GO:0060339	negative regulation of type I interferon-mediated signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006996	organelle organization	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904925	positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization	IEA	biological process
GO:0031647	regulation of protein stability	IEA	biological process
GO:0051881	regulation of mitochondrial membrane potential	IEA	biological process
GO:1903861	positive regulation of dendrite extension	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016925	protein sumoylation	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0090141	positive regulation of mitochondrial fission	IDA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0010637	negative regulation of mitochondrial fusion	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0019789	SUMO transferase activity	IDA	molecular function
GO:0007257	activation of JUN kinase activity	IDA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:1901028	regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA	biological process
GO:0033235	positive regulation of protein sumoylation	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051646	mitochondrion localization	IMP	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050821	protein stabilization	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0000266	mitochondrial fission	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881