MUL1 (mitochondrial E3 ubiquitin protein ligase 1)

2016-10-01 Affiliation

Identity

HGNC

MUL1

LOCATION

1p36.12

LOCUSID

79594

ALIAS

C1orf166,GIDE,MAPL,MULAN,RNF218

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 79594
MIM: 612037
HGNC: 25762
Ensembl: ENSG00000090432

Variants:

dbSNP: 79594
ClinVar: 79594
TCGA: ENSG00000090432
COSMIC: MUL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000090432	ENST00000264198	Q969V5
ENSG00000090432	ENST00000264198	A0A024RAA0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Deubiquitination	REACTOME	R-HSA-5688426
Ub-specific processing proteases	REACTOME	R-HSA-5689880

References

Pubmed ID	Year	Title	Citations
18213395	2008	Genome-wide and functional annotation of human E3 ubiquitin ligases identifies MULAN, a mitochondrial E3 that regulates the organelle's dynamics and signaling.	267
18213395	2008	Genome-wide and functional annotation of human E3 ubiquitin ligases identifies MULAN, a mitochondrial E3 that regulates the organelle's dynamics and signaling.	267
18207745	2008	Cargo-selected transport from the mitochondria to peroxisomes is mediated by vesicular carriers.	169
18207745	2008	Cargo-selected transport from the mitochondria to peroxisomes is mediated by vesicular carriers.	169
19407830	2009	MAPL is a new mitochondrial SUMO E3 ligase that regulates mitochondrial fission.	118
26384664	2015	MAPL SUMOylation of Drp1 Stabilizes an ER/Mitochondrial Platform Required for Cell Death.	72
26018823	2015	Mitochondrial outer-membrane E3 ligase MUL1 ubiquitinates ULK1 and regulates selenite-induced mitophagy.	34
22410793	2012	Akt is negatively regulated by the MULAN E3 ligase.	27
18591963	2008	GIDE is a mitochondrial E3 ubiquitin ligase that induces apoptosis and slows growth.	21
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17

Citation

Dessen P

MUL1 (mitochondrial E3 ubiquitin protein ligase 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56405/mul1