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

Gene ID: 79594, updated on 17-Jun-2019

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
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
Expression
Ubiquitous expression in kidney (RPKM 8.0), heart (RPKM 7.9) and 25 other tissues See more
Orthologs

Genomic context

See MUL1 in Genome Data Viewer
Location:
1p36.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (20499448..20508483, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20825941..20834674, 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...

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
SUMO transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of JUN kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to exogenous dsRNA IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of chemokine (C-C motif) ligand 5 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of defense response to virus by host IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mitochondrial fusion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of type I interferon-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of dendrite extension IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitochondrial fission IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein sumoylation IDA
Inferred from Direct Assay
more info
PubMed 
protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axon IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuronal cell body IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
putative NF-kappa-B-activating protein 266
ring finger protein 218
NP_078820.2
XP_011540439.1

NCBI Reference Sequences (RefSeq)

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 (2) summary
    pfam12483
    Location:97251
    GIDE; E3 Ubiquitin ligase
    pfam13920
    Location:302346
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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 (2) summary
    pfam12483
    Location:58212
    GIDE; E3 Ubiquitin ligase
    pfam13920
    Location:263307
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
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