UBA5 (ubiquitin like modifier activating enzyme 5)

2007-04-01  

Identity

HGNC
UBA5
LOCATION
3q22.1
LOCUSID
79876
ALIAS
DEE44,EIEE44,SCAR24,THIFP1,UBE1DC1

Other Information

Locus ID:

NCBI: 79876
MIM: 610552
HGNC: 23230
Ensembl: ENSG00000081307

Variants:

dbSNP: 79876
ClinVar: 79876
TCGA: ENSG00000081307
COSMIC: UBA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081307ENST00000264991Q9GZZ9
ENSG00000081307ENST00000356232Q9GZZ9
ENSG00000081307ENST00000464068C9JRV9
ENSG00000081307ENST00000468022C9J0F6
ENSG00000081307ENST00000473651E7EWE1
ENSG00000081307ENST00000489361C9J5W5
ENSG00000081307ENST00000493720E7EQ61
ENSG00000081307ENST00000494238Q9GZZ9
ENSG00000081307ENST00000505777D6RJC9

Expression (GTEx)

0
10
20
30
40
50
60
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
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 levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
hippocampus
caudate
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
380792062023Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.2
380792062023Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.2
338531632021Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.4
342990072021A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1.4
345088582021Structure and dynamics of UBA5-UFM1 complex formation showing new insights in the UBA5 activation mechanism.0
345884522021Structural basis for UFM1 transfer from UBA5 to UFC1.11
338531632021Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.4
342990072021A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1.4
345088582021Structure and dynamics of UBA5-UFM1 complex formation showing new insights in the UBA5 activation mechanism.0
345884522021Structural basis for UFM1 transfer from UBA5 to UFC1.11
309903542020An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5.23
321797062020A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.11
309903542020An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5.23
321797062020A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.11
299025902019Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.8

Citation

Dessen P

UBA5 (ubiquitin like modifier activating enzyme 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46973/uba5-(ubiquitin-like-modifier-activating-enzyme-5)