InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UBA1

Summary

InnateDB Protein

IDBP-60057.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UBA1

Protein Name

ubiquitin-like modifier activating enzyme 1

Synonyms

A1S9; A1S9T; A1ST; AMCX1; CFAP124; GXP1; POC20; SMAX2; UBA1A; UBE1; UBE1X;

Species

Homo sapiens

Ensembl Protein

ENSP00000338413

InnateDB Gene

IDBG-60053 (UBA1)

Protein Structure

UniProt Annotation

Function

Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin- proteasome system. Activates ubiquitin by first adenylating its C- terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites. {ECO:0000269PubMed:22456334}.

Subcellular Localization

Cytoplasm. Mitochondrion. Nucleus.Isoform 1: Nucleus.Isoform 2: Cytoplasm.

Disease Associations

Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]: A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. {ECO:0000269PubMed:18179898, ECO:0000269PubMed:23518311}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 177 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	177 [view]
Protein-Protein	176 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004839	ubiquitin activating enzyme activity
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008641	small protein activating enzyme activity
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006464	cellular protein modification process
GO:0006974	cellular response to DNA damage stimulus
GO:0008219	cell death
GO:0016567	protein ubiquitination
GO:0019941	modification-dependent protein catabolic process

Cellular Component

GO:0000792	heterochromatin
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005765	lysosomal membrane
GO:0005829	cytosol
GO:0010008	endosome membrane
GO:0030057	desmosome
GO:0030867	rough endoplasmic reticulum membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000011 Ubiquitin/SUMO-activating enzyme E1
IPR000127 Ubiquitin-activating enzyme repeat
IPR000594 UBA/THIF-type NAD/FAD binding fold
IPR009036 Molybdenum cofactor biosynthesis, MoeB
IPR018075 Ubiquitin-activating enzyme, E1
IPR018965 Ubiquitin-activating enzyme e1, C-terminal
IPR019572 Ubiquitin-activating enzyme

PFAM

PF02134
PF00899
PF09358
PF10585

PRINTS

PR01849

PIRSF

SMART

SM00985

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt