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Gene Gene information from NCBI Gene database.
Entrez ID 79594
Gene name Mitochondrial E3 ubiquitin protein ligase 1
Gene symbol MUL1
Synonyms (NCBI Gene)
C1orf166GIDEMAPLMULANRNF218
Chromosome 1
Chromosome location 1p36.12
miRNA miRNA information provided by mirtarbase database.
223 Show/Hide all (223)
miRTarBase ID miRNA Experiments Reference
MIRT460960 hsa-miR-6783-5p PAR-CLIP 23592263
MIRT460959 hsa-miR-125a-3p PAR-CLIP 23592263
MIRT460958 hsa-miR-3184-5p PAR-CLIP 23592263
MIRT460957 hsa-miR-423-5p PAR-CLIP 23592263
MIRT460956 hsa-miR-3153 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55 Show/Hide all (55)
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 21597459
GO:0000266 Process Mitochondrial fission IMP 18207745
GO:0002039 Function P53 binding IPI 21597459
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612037 25762 ENSG00000090432
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969V5
Protein 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) (Protein Hades) (Putative NF-kappa-B-activati
Protein function Exhibits weak E3 ubiquitin-protein ligase activity (PubMed:18591963, PubMed:19407830, PubMed:22410793). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiqu
PDB 6K2K , 6M2C , 6M2D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12483 GIDE 95 → 256 E3 Ubiquitin ligase Family
PF13920 zf-C3HC4_3 298 → 346 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in the heart, skeletal muscle, placenta, kidney and liver. Barely detectable in colon and thymus. {ECO:0000269|PubMed:18213395, ECO:0000269|PubMed:18591963}.
Sequence
MESGGRPSLCQFILLGTTSVVTAALYSVYRQKARVSQELKGAKKVHLGEDLKSILSEAPG
KCVPYAVIEGAVRSVKETLNSQFVENCKGVIQRLTLQEHKMVWNRTTHLWNDCSKIIHQR
TNTVPFDLVPHEDGVDVAVRVLKPLDSVDLGLETVYEKFHPSIQSFTDVIGHYISGERPK
GIQETEEMLKVGATLTGVGELVLDNNSVRLQPPKQGMQYYLSSQDFDSLLQRQESSVRLW
KVLALVFGFATCATLF
FILRKQYLQRQERLRLKQMQEEFQEHEAQLLSRAKPEDRESLKS
ACVVCLSSFKSCVFLECGHVCSCTECYRALPEPKKCPICRQAITRV
IPLYNS
Sequence length 352
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Mitophagy - animal Ub-specific processing proteases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Lymphoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (191)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 17924349
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25274033
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29945960
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 28414305
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 30884828
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 22751121
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 37243816 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 15263005, 23447592, 23626758, 24292889, 27232889, 30082419, 30674673, 31087000, 31160454, 31625566
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21987572, 37604355 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 12975321
★★★★★
★☆☆☆☆
Found in Text Mining only