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

Gene ID: 79594, updated on 25-Jan-2022

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, Nov 2021]
Expression
Ubiquitous expression in kidney (RPKM 8.0), heart (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See MUL1 in Genome Data Viewer
Location:
1p36.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (20499448..20508483, complement)
105.20201022 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 von Willebrand factor A domain containing 5B1 Neighboring gene long intergenic non-protein coding RNA 1141 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 1 Neighboring gene ribosomal protein S4X pseudogene 4 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

Homology

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
PubMed 
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 protein kinase B signaling 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 I-kappaB kinase/NF-kappaB signaling HMP 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 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
PubMed 
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 integral component of mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

NCBI Reference Sequences (RefSeq)

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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
    Q969V5
    UniProtKB/TrEMBL
    A0A024RAA0
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    20499448..20508483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542137.2XP_011540439.1  mitochondrial ubiquitin ligase activator of NFKB 1 isoform X1

    See identical proteins and their annotated locations for XP_011540439.1

    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
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