UBA1 (ubiquitin like modifier activating enzyme 1)

2003-08-01  

Identity

HGNC
UBA1
LOCATION
Xp11.3
LOCUSID
7317
ALIAS
A1S9,A1S9T,A1ST,AMCX1,CFAP124,GXP1,POC20,SMAX2,UBA1A,UBE1,UBE1X,VEXAS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7317
MIM: 314370
HGNC: 12469
Ensembl: ENSG00000130985

Variants:

dbSNP: 7317
ClinVar: 7317
TCGA: ENSG00000130985
COSMIC: UBA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130985ENST00000335972P22314
ENSG00000130985ENST00000335972A0A024R1A3
ENSG00000130985ENST00000377269Q5JRR6
ENSG00000130985ENST00000377351P22314
ENSG00000130985ENST00000377351A0A024R1A3
ENSG00000130985ENST00000412206Q5JRR9
ENSG00000130985ENST00000427561Q5JRS1
ENSG00000130985ENST00000442035Q5JRS0
ENSG00000130985ENST00000451702Q5JRS2
ENSG00000130985ENST00000457753Q5JRS3

Expression (GTEx)

0
50
100
150
200
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

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Parkinson's diseaseKEGGhsa05012
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Protein ubiquitinationREACTOMER-HSA-8852135
Synthesis of active ubiquitin: roles of E1 and E2 enzymesREACTOMER-HSA-8866652

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376327782024Clonal haematopoiesis and UBA1 mutations in individuals with biopsy-proven giant cell arteritis and population-based controls.1
381672092024Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.1
376327782024Clonal haematopoiesis and UBA1 mutations in individuals with biopsy-proven giant cell arteritis and population-based controls.1
381672092024Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.1
365375912023An update on VEXAS syndrome.7
370627842023Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.1
365375912023An update on VEXAS syndrome.7
370627842023Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.1
340488522022Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.40
344746322022Looking for somatic mutations in UBA1 in patients with chronic myelomonocytic leukemia associated with systemic inflammation and autoimmune diseases.2
350941942022UBA1 gene mutation in giant cell arteritis.3
357136542022Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome.3
359969942022Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy.0
360023952022Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study.5
340488522022Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.40

Citation

Dessen P

UBA1 (ubiquitin like modifier activating enzyme 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42744/js/humanGenome