UBA1

UBA1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4P22
Identifiers
Aliases	UBA1, A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, ubiquitin like modifier activating enzyme 1
External IDs	OMIM: 314370; MGI: 98890; HomoloGene: 22002; GeneCards: UBA1; OMA:UBA1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	47,215,128 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	20,549,418 bp
RNA expression pattern
	Top expressed in
	renal medulla; ; mucosa of pharynx; ; ventricular zone; ; right lobe of thyroid gland; ; ganglionic eminence; ; nipple; ; postcentral gyrus; ; right uterine tube; ; spinal ganglia; ; trigeminal ganglion;
	Top expressed in
	tail of embryo; ; ganglionic eminence; ; genital tubercle; ; dentate gyrus of hippocampal formation granule cell; ; CA3 field; ; ventricular zone; ; gastrula; ; epiblast; ; habenula; ; choroid plexus of fourth ventricle;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; ligase activity; protein binding; ubiquitin-like modifier activating enzyme activity; ATP binding; ubiquitin activating enzyme activity; RNA binding;
Cellular component	cytoplasm; rough endoplasmic reticulum membrane; desmosome; heterochromatin; lysosomal membrane; mitochondrion; endosome membrane; extracellular exosome; nucleus; nucleoplasm; cytosol;
Biological process	cellular response to DNA damage stimulus; protein ubiquitination; ubiquitin-dependent protein catabolic process; protein modification by small protein conjugation; metabolism;
	Sources:Amigo / QuickGO
Orthologs
	7317
	22201
	ENSG00000130985
	ENSMUSG00000001924
	P22314; Q5JRS2
	Q02053
	NM_003334; NM_153280
	NM_001136085; NM_001276316; NM_001276317; NM_009457
	NP_003325; NP_695012
	NP_001129557; NP_001263245; NP_001263246; NP_033483
	Wikidata
View/Edit Human	View/Edit Mouse

Ubiquitin-like modifier activating enzyme 1 (UBA1) is an enzyme which in humans is encoded by the UBA1 gene.^[5]^[6] UBA1 participates in ubiquitination and the NEDD8 pathway for protein folding and degradation, among many other biological processes.^[5]^[7] This protein has been linked to X-linked spinal muscular atrophy type 2, neurodegenerative diseases, and cancers.^[8]^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130985 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000001924 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: ubiquitin-like modifier activating enzyme 1".
^ Kudo M, Sugasawa K, Hori T, Enomoto T, Hanaoka F, Ui M (January 1991). "Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome". Experimental Cell Research. 192 (1): 110–7. doi:10.1016/0014-4827(91)90164-P. PMID 1845793.
^ Leidecker O, Matic I, Mahata B, Pion E, Xirodimas DP (March 2012). "The ubiquitin E1 enzyme Ube1 mediates NEDD8 activation under diverse stress conditions". Cell Cycle. 11 (6): 1142–50. doi:10.4161/cc.11.6.19559. PMID 22370482.
^ Correale S, de Paola I, Morgillo CM, Federico A, Zaccaro L, Pallante P, Galeone A, Fusco A, Pedone E, Luque FJ, Catalanotti B (2014). "Structural model of the hUbA1-UbcH10 quaternary complex: in silico and experimental analysis of the protein-protein interactions between E1, E2 and ubiquitin". PLOS ONE. 9 (11): e112082. Bibcode:2014PLoSO...9k2082C. doi:10.1371/journal.pone.0112082. PMC 4223017. PMID 25375166.
^ Ungermannova D, Parker SJ, Nasveschuk CG, Wang W, Quade B, Zhang G, Kuchta RD, Phillips AJ, Liu X (2012). "Largazole and its derivatives selectively inhibit ubiquitin activating enzyme (e1)". PLOS ONE. 7 (1): e29208. Bibcode:2012PLoSO...729208U. doi:10.1371/journal.pone.0029208. PMC 3261141. PMID 22279528.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130985 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000001924 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: ubiquitin-like modifier activating enzyme 1".

[Kudo_1991-6] Kudo M, Sugasawa K, Hori T, Enomoto T, Hanaoka F, Ui M (January 1991). "Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome". Experimental Cell Research. 192 (1): 110–7. doi:10.1016/0014-4827(91)90164-P. PMID 1845793.

[Leidecker_2012-7] Leidecker O, Matic I, Mahata B, Pion E, Xirodimas DP (March 2012). "The ubiquitin E1 enzyme Ube1 mediates NEDD8 activation under diverse stress conditions". Cell Cycle. 11 (6): 1142–50. doi:10.4161/cc.11.6.19559. PMID 22370482.

[Correale_2014-8] Correale S, de Paola I, Morgillo CM, Federico A, Zaccaro L, Pallante P, Galeone A, Fusco A, Pedone E, Luque FJ, Catalanotti B (2014). "Structural model of the hUbA1-UbcH10 quaternary complex: in silico and experimental analysis of the protein-protein interactions between E1, E2 and ubiquitin". PLOS ONE. 9 (11): e112082. Bibcode:2014PLoSO...9k2082C. doi:10.1371/journal.pone.0112082. PMC 4223017. PMID 25375166.

[Ungermannova_2012-9] Ungermannova D, Parker SJ, Nasveschuk CG, Wang W, Quade B, Zhang G, Kuchta RD, Phillips AJ, Liu X (2012). "Largazole and its derivatives selectively inhibit ubiquitin activating enzyme (e1)". PLOS ONE. 7 (1): e29208. Bibcode:2012PLoSO...729208U. doi:10.1371/journal.pone.0029208. PMC 3261141. PMID 22279528.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]