Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

MUL1

protein_coding 1 20,495,722 - 20,508,163 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000090432

Gene type
protein_coding

Chromosome
1

Coordinates
20,495,722 - 20,508,163

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

79594 C1orf166 CCDS208 ENST00000264198.5 FLJ12875 GIDE MAPL MULAN NM_024544 NM_024544.3 Q969V5 RNF218 chromosome 1 open reading frame 166 growth inhibition and death E3 ligase mitochondria-anchored protein ligase mitochondrial ubiquitin ligase activator of NFKB 1 ring finger protein 218

Summary

GENCODE gene_type=protein_coding; HGNC symbol=MUL1; HGNC name=mitochondrial E3 ubiquitin protein ligase 1; alias_count=17; RefSeq=NM_024544; UniProt=Q969V5; MANE Select=ENST00000264198.5,NM_024544.3

Source: GENCODE + HGNC complete set

79594 • protein-coding

Alliance of Genome Resources Enables several functions, including p53 binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like protein transferase activity. Involved in several processes, including cellular response to exogenous dsRNA; negative regulation of defense response; and regulation of mitochondrion organization. Located in several cellular components, including mitochondrial outer membrane; neuronal cell body; and peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

NCBI Gene

UniProt

Q969V5 • reviewed

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 ubiquitin to targeted substrates (PubMed:18591963, PubMed:19407830, PubMed:22410793). 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 proteasomal degradation (PubMed:22410793). Mediates polyubiquitination of cytoplasmic TP53 at 'Lys-24' which targets TP53 for proteasomal degradation, thus reducing TP53 levels in the cytoplasm and mitochondrion (PubMed:21597459). Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations (PubMed:19407830). Plays a role in the control of mitochondrial morphology by promoting mitochondrial fragmentation, and influences mitochondrial localization (PubMed:18207745, PubMed:18213395, PubMed:19407830). Likely to promote mitochondrial fission through negatively regulating the mitochondrial fusion proteins MFN1 and MFN2, acting in a pathway that is parallel to the PRKN/PINK1 regulatory pathway (PubMed:24898855). May also be involved in the sumoylation of the membrane fission protein DNM1L (PubMed:18207745, PubMed:19407830). Inhibits cell growth (PubMed:18591963, PubMed:22410793). When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis (PubMed:23399697). Involved in the modulation of innate immune defense against viruses by inhibiting RIGI-dependent antiviral response (PubMed:23399697). Can mediate RIGI sumoylation and disrupt its polyubiquitination (PubMed:23399697)

Mitochondrial ubiquitin ligase activator of NFKB 1 · Mitochondrion outer membrane; Peroxisome · EC 2.3.2.27

GO annotations

Biological process

GO:0071360 cellular response to exogenous dsRNA (IDA)
GO:0000266 mitochondrial fission (IMP)
GO:0051646 mitochondrion localization (IMP)
GO:0071650 negative regulation of chemokine (C-C motif) ligand 5 production (IMP)
GO:0050689 negative regulation of defense response to virus by host (IMP)
GO:0045824 negative regulation of innate immune response (IMP)
GO:0010637 negative regulation of mitochondrial fusion (IDA)
GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (IDA)
GO:0060339 negative regulation of type I interferon-mediated signaling pathway (IMP)
GO:0141111 positive regulation of cGAS/STING signaling pathway (IDA)

+ 22 more

Cellular component

GO:0140596 TOM complex (IDA)
GO:0030424 axon (IMP)
GO:0016020 membrane (HDA)
GO:0005741 mitochondrial outer membrane (IEA)
GO:0005741 mitochondrial outer membrane (IDA)
GO:0005741 mitochondrial outer membrane (IDA)
GO:0005741 mitochondrial outer membrane (EXP)
GO:0005741 mitochondrial outer membrane (EXP)
GO:0005741 mitochondrial outer membrane (TAS)
GO:0005739 mitochondrion (IDA)

+ 8 more

Molecular function

GO:0019789 SUMO transferase activity (IDA)
GO:0042802 identical protein binding (IPI)
GO:0002039 p53 binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)

+ 14 more

Representative

Representative transcript
ENST00000264198

Representative protein
ENSP00000264198.3

Representative type
CCDS

Candidate count
2

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000908517	MUL1-202	protein_coding	not available	ENSP00000578576.1	1:20,495,722 - 20,508,163 -
ENST00000925240	MUL1-203	protein_coding	not available	ENSP00000595299.1	1:20,495,722 - 20,508,163 -
ENST00001053144	MUL1-206	protein_coding	not available	ENSP00000722961.1	1:20,495,722 - 20,508,163 -
ENST00001144518	MUL1-214	protein_coding	not available	ENSP00000803573.1	1:20,495,722 - 20,508,163 -
ENST00000264198	MUL1-201	protein_coding	not available	ENSP00000264198.3	1:20,499,448 - 20,508,151 -
ENST00000983789	MUL1-204	protein_coding	not available	ENSP00000653606.1	1:20,499,448 - 20,508,163 -
ENST00001117336	MUL1-208	nonsense_mediated_decay	not available	ENSP00000787141.1	1:20,499,448 - 20,508,151 -
ENST00001117337	MUL1-209	nonsense_mediated_decay	not available	ENSP00000787142.1	1:20,499,448 - 20,508,151 -
ENST00000983790	MUL1-205	protein_coding	not available	ENSP00000653607.1	1:20,499,450 - 20,508,163 -
ENST00001053145	MUL1-207	nonsense_mediated_decay	not available	ENSP00000722962.1	1:20,499,450 - 20,508,116 -
ENST00001117338	MUL1-210	nonsense_mediated_decay	not available	ENSP00000787143.1	1:20,499,450 - 20,508,147 -
ENST00001123928	MUL1-211	nonsense_mediated_decay	not available	ENSP00000793733.1	1:20,499,450 - 20,508,151 -
ENST00001123929	MUL1-212	nonsense_mediated_decay	not available	ENSP00000793734.1	1:20,499,450 - 20,508,130 -
ENST00001123930	MUL1-213	nonsense_mediated_decay	not available	ENSP00000793735.1	1:20,499,450 - 20,508,119 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.