UBA6 (ubiquitin like modifier activating enzyme 6)

2014-11-01 Affiliation

Identity

HGNC

UBA6

LOCATION

4q13.2

LOCUSID

55236

ALIAS

E1-L2,MOP-4,UBE1L2

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: 55236
MIM: 611361
HGNC: 25581
Ensembl: ENSG00000033178

Variants:

dbSNP: 55236
ClinVar: 55236
TCGA: ENSG00000033178
COSMIC: UBA6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000033178	ENST00000322244	A0AVT1
ENSG00000033178	ENST00000322244	A0A024RDB0
ENSG00000033178	ENST00000420827	A0AVT1
ENSG00000033178	ENST00000505673	H0Y8S8
ENSG00000033178	ENST00000514261	H0Y9U5

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
Ubiquitin mediated proteolysis	KEGG	ko04120
Ubiquitin mediated proteolysis	KEGG	hsa04120
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradation	REACTOME	R-HSA-983168
Protein ubiquitination	REACTOME	R-HSA-8852135
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	REACTOME	R-HSA-8866652

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17597759	2007	Dual E1 activation systems for ubiquitin differentially regulate E2 enzyme charging.	122
17889673	2007	E1-L2 activates both ubiquitin and FAT10.	62
17580310	2007	UBE1L2, a novel E1 enzyme specific for ubiquitin.	49
18353650	2008	Activating the ubiquitin family: UBA6 challenges the field.	28
28134249	2017	Orthogonal ubiquitin transfer identifies ubiquitination substrates under differential control by the two ubiquitin activating enzymes.	15
22427669	2012	Mechanistic studies on activation of ubiquitin and di-ubiquitin-like protein, FAT10, by ubiquitin-like modifier activating enzyme 6, Uba6.	12
27569286	2016	LMO2 blocks the UBA6-USE1 interaction and downstream FAT10ylation by targeting the ubiquitin fold domain of UBA6.	5
31692446	2019	Negative regulation of autophagy by UBA6-BIRC6-mediated ubiquitination of LC3.	4
26284580	2015	Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.	3
22999844	2012	The Escherichia coli adherence factor plasmid of enteropathogenic Escherichia coli causes a global decrease in ubiquitylated host cell proteins by decreasing ubiquitin E1 enzyme expression through host aspartyl proteases.	2

Citation

Dessen P

UBA6 (ubiquitin like modifier activating enzyme 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75403/uba6