Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7317
Gene name	Ubiquitin like modifier activating enzyme 1
Gene symbol	UBA1
Synonyms (NCBI Gene)	A1S9A1S9TA1STAMCX1CFAP124GXP1POC20SMAX2UBA1AUBE1UBE1XVEXAS
Chromosome	X
Chromosome location	Xp11.3
Summary	The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051972	hsa-let-7b-5p	CLASH	23622248
MIRT051972	hsa-let-7b-5p	CLASH	23622248
MIRT051972	hsa-let-7b-5p	CLASH	23622248
MIRT051972	hsa-let-7b-5p	CLASH	23622248
MIRT050778	hsa-miR-17-3p	CLASH	23622248
MIRT047192	hsa-miR-182-5p	CLASH	23622248
MIRT047004	hsa-miR-210-3p	CLASH	23622248
MIRT046712	hsa-miR-222-3p	CLASH	23622248
MIRT046237	hsa-miR-27b-3p	CLASH	23622248
MIRT043523	hsa-miR-331-3p	CLASH	23622248
MIRT043196	hsa-miR-324-5p	CLASH	23622248
MIRT040312	hsa-miR-615-3p	CLASH	23622248
MIRT037737	hsa-miR-744-5p	CLASH	23622248
MIRT036044	hsa-miR-1301-3p	CLASH	23622248
MIRT035858	hsa-miR-1254	CLASH	23622248
MIRT455034	hsa-miR-21-3p	PAR-CLIP	23592263
MIRT455033	hsa-miR-3591-3p	PAR-CLIP	23592263
MIRT455032	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT455031	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT455030	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT455029	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT455028	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT455027	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT455026	hsa-miR-1272	PAR-CLIP	23592263
MIRT455025	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT455024	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT455023	hsa-miR-4419a	PAR-CLIP	23592263
MIRT455022	hsa-miR-4510	PAR-CLIP	23592263
MIRT455021	hsa-miR-6127	PAR-CLIP	23592263
MIRT455020	hsa-miR-6129	PAR-CLIP	23592263
MIRT455019	hsa-miR-6130	PAR-CLIP	23592263
MIRT455018	hsa-miR-6133	PAR-CLIP	23592263
MIRT455016	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT455017	hsa-miR-4525	PAR-CLIP	23592263
MIRT455015	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT455014	hsa-miR-4278	PAR-CLIP	23592263
MIRT455013	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT455034	hsa-miR-21-3p	PAR-CLIP	23592263
MIRT455033	hsa-miR-3591-3p	PAR-CLIP	23592263
MIRT455032	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT455031	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT455030	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT455029	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT455028	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT455027	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT455026	hsa-miR-1272	PAR-CLIP	23592263
MIRT455025	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT455024	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT455023	hsa-miR-4419a	PAR-CLIP	23592263
MIRT455022	hsa-miR-4510	PAR-CLIP	23592263
MIRT455021	hsa-miR-6127	PAR-CLIP	23592263
MIRT455020	hsa-miR-6129	PAR-CLIP	23592263
MIRT455019	hsa-miR-6130	PAR-CLIP	23592263
MIRT455018	hsa-miR-6133	PAR-CLIP	23592263
MIRT455016	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT455017	hsa-miR-4525	PAR-CLIP	23592263
MIRT455015	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT455014	hsa-miR-4278	PAR-CLIP	23592263
MIRT455013	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT1466301	hsa-miR-2682	CLIP-seq
MIRT1466302	hsa-miR-31	CLIP-seq
MIRT1466303	hsa-miR-3125	CLIP-seq
MIRT1466304	hsa-miR-3138	CLIP-seq
MIRT1466305	hsa-miR-3154	CLIP-seq
MIRT1466306	hsa-miR-3194-5p	CLIP-seq
MIRT1466307	hsa-miR-34a	CLIP-seq
MIRT1466308	hsa-miR-34c-5p	CLIP-seq
MIRT1466309	hsa-miR-3688-5p	CLIP-seq
MIRT1466310	hsa-miR-3714	CLIP-seq
MIRT1466311	hsa-miR-3916	CLIP-seq
MIRT1466312	hsa-miR-4468	CLIP-seq
MIRT1466313	hsa-miR-449a	CLIP-seq
MIRT1466314	hsa-miR-449b	CLIP-seq
MIRT1466315	hsa-miR-449c	CLIP-seq
MIRT1466316	hsa-miR-4640-5p	CLIP-seq
MIRT1466317	hsa-miR-4650-3p	CLIP-seq
MIRT1466318	hsa-miR-4726-5p	CLIP-seq
MIRT1466319	hsa-miR-483-5p	CLIP-seq
MIRT1466320	hsa-miR-877	CLIP-seq
MIRT1466321	hsa-miR-1292	CLIP-seq
MIRT1466322	hsa-miR-1587	CLIP-seq
MIRT1466301	hsa-miR-2682	CLIP-seq
MIRT1466302	hsa-miR-31	CLIP-seq
MIRT1466323	hsa-miR-3147	CLIP-seq
MIRT1466305	hsa-miR-3154	CLIP-seq
MIRT1466324	hsa-miR-3159	CLIP-seq
MIRT1466325	hsa-miR-3179	CLIP-seq
MIRT1466326	hsa-miR-3202	CLIP-seq
MIRT1466307	hsa-miR-34a	CLIP-seq
MIRT1466308	hsa-miR-34c-5p	CLIP-seq
MIRT1466327	hsa-miR-3652	CLIP-seq
MIRT1466309	hsa-miR-3688-5p	CLIP-seq
MIRT1466310	hsa-miR-3714	CLIP-seq
MIRT1466328	hsa-miR-378g	CLIP-seq
MIRT1466329	hsa-miR-3927	CLIP-seq
MIRT1466330	hsa-miR-3936	CLIP-seq
MIRT1466331	hsa-miR-4252	CLIP-seq
MIRT1466332	hsa-miR-4259	CLIP-seq
MIRT1466333	hsa-miR-4292	CLIP-seq
MIRT1466334	hsa-miR-4430	CLIP-seq
MIRT1466335	hsa-miR-4455	CLIP-seq
MIRT1466336	hsa-miR-4471	CLIP-seq
MIRT1466337	hsa-miR-4477a	CLIP-seq
MIRT1466338	hsa-miR-4492	CLIP-seq
MIRT1466339	hsa-miR-4498	CLIP-seq
MIRT1466313	hsa-miR-449a	CLIP-seq
MIRT1466314	hsa-miR-449b	CLIP-seq
MIRT1466315	hsa-miR-449c	CLIP-seq
MIRT1466340	hsa-miR-4533	CLIP-seq
MIRT1466316	hsa-miR-4640-5p	CLIP-seq
MIRT1466317	hsa-miR-4650-3p	CLIP-seq
MIRT1466341	hsa-miR-4656	CLIP-seq
MIRT1466342	hsa-miR-4675	CLIP-seq
MIRT1466343	hsa-miR-4715-5p	CLIP-seq
MIRT1466318	hsa-miR-4726-5p	CLIP-seq
MIRT1466344	hsa-miR-4741	CLIP-seq
MIRT1466345	hsa-miR-4786-3p	CLIP-seq
MIRT1466346	hsa-miR-499a-5p	CLIP-seq
MIRT1466347	hsa-miR-607	CLIP-seq
MIRT1466348	hsa-miR-624	CLIP-seq
MIRT1466349	hsa-miR-651	CLIP-seq
MIRT1466350	hsa-miR-762	CLIP-seq
MIRT1466321	hsa-miR-1292	CLIP-seq
MIRT1466322	hsa-miR-1587	CLIP-seq
MIRT2140198	hsa-miR-185	CLIP-seq
MIRT1466301	hsa-miR-2682	CLIP-seq
MIRT1466302	hsa-miR-31	CLIP-seq
MIRT1466305	hsa-miR-3154	CLIP-seq
MIRT1466324	hsa-miR-3159	CLIP-seq
MIRT1466325	hsa-miR-3179	CLIP-seq
MIRT1466326	hsa-miR-3202	CLIP-seq
MIRT1466307	hsa-miR-34a	CLIP-seq
MIRT1466308	hsa-miR-34c-5p	CLIP-seq
MIRT1466327	hsa-miR-3652	CLIP-seq
MIRT1466309	hsa-miR-3688-5p	CLIP-seq
MIRT1466310	hsa-miR-3714	CLIP-seq
MIRT1466328	hsa-miR-378g	CLIP-seq
MIRT2140199	hsa-miR-3911	CLIP-seq
MIRT1466329	hsa-miR-3927	CLIP-seq
MIRT1466330	hsa-miR-3936	CLIP-seq
MIRT1466333	hsa-miR-4292	CLIP-seq
MIRT2140200	hsa-miR-4306	CLIP-seq
MIRT1466334	hsa-miR-4430	CLIP-seq
MIRT1466335	hsa-miR-4455	CLIP-seq
MIRT1466336	hsa-miR-4471	CLIP-seq
MIRT1466338	hsa-miR-4492	CLIP-seq
MIRT1466339	hsa-miR-4498	CLIP-seq
MIRT1466313	hsa-miR-449a	CLIP-seq
MIRT1466314	hsa-miR-449b	CLIP-seq
MIRT1466315	hsa-miR-449c	CLIP-seq
MIRT1466340	hsa-miR-4533	CLIP-seq
MIRT2140201	hsa-miR-4644	CLIP-seq
MIRT1466317	hsa-miR-4650-3p	CLIP-seq
MIRT1466341	hsa-miR-4656	CLIP-seq
MIRT1466342	hsa-miR-4675	CLIP-seq
MIRT1466344	hsa-miR-4741	CLIP-seq
MIRT1466345	hsa-miR-4786-3p	CLIP-seq
MIRT1466347	hsa-miR-607	CLIP-seq
MIRT1466348	hsa-miR-624	CLIP-seq
MIRT1466349	hsa-miR-651	CLIP-seq
MIRT1466350	hsa-miR-762	CLIP-seq
MIRT1466321	hsa-miR-1292	CLIP-seq
MIRT1466322	hsa-miR-1587	CLIP-seq
MIRT2140198	hsa-miR-185	CLIP-seq
MIRT1466301	hsa-miR-2682	CLIP-seq
MIRT1466302	hsa-miR-31	CLIP-seq
MIRT1466303	hsa-miR-3125	CLIP-seq
MIRT1466304	hsa-miR-3138	CLIP-seq
MIRT1466323	hsa-miR-3147	CLIP-seq
MIRT1466305	hsa-miR-3154	CLIP-seq
MIRT1466324	hsa-miR-3159	CLIP-seq
MIRT1466325	hsa-miR-3179	CLIP-seq
MIRT1466306	hsa-miR-3194-5p	CLIP-seq
MIRT1466326	hsa-miR-3202	CLIP-seq
MIRT1466307	hsa-miR-34a	CLIP-seq
MIRT1466308	hsa-miR-34c-5p	CLIP-seq
MIRT1466327	hsa-miR-3652	CLIP-seq
MIRT1466309	hsa-miR-3688-5p	CLIP-seq
MIRT1466310	hsa-miR-3714	CLIP-seq
MIRT1466328	hsa-miR-378g	CLIP-seq
MIRT2140199	hsa-miR-3911	CLIP-seq
MIRT1466311	hsa-miR-3916	CLIP-seq
MIRT1466329	hsa-miR-3927	CLIP-seq
MIRT1466330	hsa-miR-3936	CLIP-seq
MIRT1466331	hsa-miR-4252	CLIP-seq
MIRT1466332	hsa-miR-4259	CLIP-seq
MIRT1466333	hsa-miR-4292	CLIP-seq
MIRT2140200	hsa-miR-4306	CLIP-seq
MIRT1466334	hsa-miR-4430	CLIP-seq
MIRT1466335	hsa-miR-4455	CLIP-seq
MIRT1466312	hsa-miR-4468	CLIP-seq
MIRT1466336	hsa-miR-4471	CLIP-seq
MIRT1466338	hsa-miR-4492	CLIP-seq
MIRT1466339	hsa-miR-4498	CLIP-seq
MIRT1466313	hsa-miR-449a	CLIP-seq
MIRT1466314	hsa-miR-449b	CLIP-seq
MIRT1466315	hsa-miR-449c	CLIP-seq
MIRT1466340	hsa-miR-4533	CLIP-seq
MIRT1466316	hsa-miR-4640-5p	CLIP-seq
MIRT2140201	hsa-miR-4644	CLIP-seq
MIRT1466317	hsa-miR-4650-3p	CLIP-seq
MIRT2360933	hsa-miR-4651	CLIP-seq
MIRT1466341	hsa-miR-4656	CLIP-seq
MIRT1466342	hsa-miR-4675	CLIP-seq
MIRT1466343	hsa-miR-4715-5p	CLIP-seq
MIRT1466318	hsa-miR-4726-5p	CLIP-seq
MIRT1466344	hsa-miR-4741	CLIP-seq
MIRT1466345	hsa-miR-4786-3p	CLIP-seq
MIRT1466319	hsa-miR-483-5p	CLIP-seq
MIRT1466346	hsa-miR-499a-5p	CLIP-seq
MIRT1466347	hsa-miR-607	CLIP-seq
MIRT2360934	hsa-miR-608	CLIP-seq
MIRT1466348	hsa-miR-624	CLIP-seq
MIRT1466349	hsa-miR-651	CLIP-seq
MIRT1466350	hsa-miR-762	CLIP-seq
MIRT1466320	hsa-miR-877	CLIP-seq
MIRT1466321	hsa-miR-1292	CLIP-seq
MIRT1466322	hsa-miR-1587	CLIP-seq
MIRT2140198	hsa-miR-185	CLIP-seq
MIRT1466303	hsa-miR-3125	CLIP-seq
MIRT1466304	hsa-miR-3138	CLIP-seq
MIRT1466325	hsa-miR-3179	CLIP-seq
MIRT1466306	hsa-miR-3194-5p	CLIP-seq
MIRT1466326	hsa-miR-3202	CLIP-seq
MIRT1466327	hsa-miR-3652	CLIP-seq
MIRT1466328	hsa-miR-378g	CLIP-seq
MIRT2140199	hsa-miR-3911	CLIP-seq
MIRT1466311	hsa-miR-3916	CLIP-seq
MIRT1466330	hsa-miR-3936	CLIP-seq
MIRT1466333	hsa-miR-4292	CLIP-seq
MIRT2140200	hsa-miR-4306	CLIP-seq
MIRT1466334	hsa-miR-4430	CLIP-seq
MIRT1466335	hsa-miR-4455	CLIP-seq
MIRT1466312	hsa-miR-4468	CLIP-seq
MIRT1466336	hsa-miR-4471	CLIP-seq
MIRT1466338	hsa-miR-4492	CLIP-seq
MIRT1466339	hsa-miR-4498	CLIP-seq
MIRT1466340	hsa-miR-4533	CLIP-seq
MIRT1466316	hsa-miR-4640-5p	CLIP-seq
MIRT2140201	hsa-miR-4644	CLIP-seq
MIRT2360933	hsa-miR-4651	CLIP-seq
MIRT1466341	hsa-miR-4656	CLIP-seq
MIRT1466342	hsa-miR-4675	CLIP-seq
MIRT1466318	hsa-miR-4726-5p	CLIP-seq
MIRT1466344	hsa-miR-4741	CLIP-seq
MIRT1466345	hsa-miR-4786-3p	CLIP-seq
MIRT1466319	hsa-miR-483-5p	CLIP-seq
MIRT2360934	hsa-miR-608	CLIP-seq
MIRT1466350	hsa-miR-762	CLIP-seq
MIRT1466320	hsa-miR-877	CLIP-seq
MIRT1466321	hsa-miR-1292	CLIP-seq
MIRT1466322	hsa-miR-1587	CLIP-seq
MIRT2140198	hsa-miR-185	CLIP-seq
MIRT1466303	hsa-miR-3125	CLIP-seq
MIRT1466304	hsa-miR-3138	CLIP-seq
MIRT1466325	hsa-miR-3179	CLIP-seq
MIRT1466306	hsa-miR-3194-5p	CLIP-seq
MIRT1466326	hsa-miR-3202	CLIP-seq
MIRT1466327	hsa-miR-3652	CLIP-seq
MIRT1466328	hsa-miR-378g	CLIP-seq
MIRT2140199	hsa-miR-3911	CLIP-seq
MIRT1466311	hsa-miR-3916	CLIP-seq
MIRT1466330	hsa-miR-3936	CLIP-seq
MIRT1466333	hsa-miR-4292	CLIP-seq
MIRT2140200	hsa-miR-4306	CLIP-seq
MIRT1466334	hsa-miR-4430	CLIP-seq
MIRT1466335	hsa-miR-4455	CLIP-seq
MIRT1466312	hsa-miR-4468	CLIP-seq
MIRT1466336	hsa-miR-4471	CLIP-seq
MIRT1466338	hsa-miR-4492	CLIP-seq
MIRT1466339	hsa-miR-4498	CLIP-seq
MIRT1466340	hsa-miR-4533	CLIP-seq
MIRT1466316	hsa-miR-4640-5p	CLIP-seq
MIRT2140201	hsa-miR-4644	CLIP-seq
MIRT2360933	hsa-miR-4651	CLIP-seq
MIRT1466341	hsa-miR-4656	CLIP-seq
MIRT1466342	hsa-miR-4675	CLIP-seq
MIRT1466318	hsa-miR-4726-5p	CLIP-seq
MIRT1466344	hsa-miR-4741	CLIP-seq
MIRT1466345	hsa-miR-4786-3p	CLIP-seq
MIRT1466319	hsa-miR-483-5p	CLIP-seq
MIRT2360934	hsa-miR-608	CLIP-seq
MIRT1466350	hsa-miR-762	CLIP-seq
MIRT1466320	hsa-miR-877	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000792	Component	Heterochromatin	IDA	1376922
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004839	Function	Ubiquitin activating enzyme activity	IBA
GO:0004839	Function	Ubiquitin activating enzyme activity	IDA	12629039, 21685362
GO:0004839	Function	Ubiquitin activating enzyme activity	IEA
GO:0004839	Function	Ubiquitin activating enzyme activity	IMP	33108101
GO:0004839	Function	Ubiquitin activating enzyme activity	TAS
GO:0005515	Function	Protein binding	IPI	16227972, 17956732, 22190034, 26752685, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	1376922, 22456334
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	33108101
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	1376922
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	33108101
GO:0005739	Component	Mitochondrion	IDA	1376922
GO:0005739	Component	Mitochondrion	IEA
GO:0005765	Component	Lysosomal membrane	IDA	1376922
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	22456334
GO:0008641	Function	Ubiquitin-like modifier activating enzyme activity	IEA
GO:0010008	Component	Endosome membrane	IDA	1376922
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0016874	Function	Ligase activity	IEA
GO:0030057	Component	Desmosome	IDA	1376922
GO:0030867	Component	Rough endoplasmic reticulum membrane	IDA	1376922
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145

MIM	HGNC	e!Ensembl
314370	12469	ENSG00000130985

P22314

Protein name

Ubiquitin-like modifier-activating enzyme 1 (EC 6.2.1.45) (Protein A1S9) (Ubiquitin-activating enzyme E1)

Protein function

Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1447181, PubMed:1606621, PubMed:33108101). Activates ubiquitin by first adenylating its C-terminal glycin

PDB

4P22 , 6DC6 , 7PYV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00899	ThiF	55 → 450	ThiF family	Domain
PF16190	E1_FCCH	227 → 297	Ubiquitin-activating enzyme E1 FCCH domain	Domain
PF16191	E1_4HB	298 → 366	Ubiquitin-activating enzyme E1 four-helix bundle	Domain
PF00899	ThiF	451 → 952	ThiF family	Domain
PF10585	UBA_e1_thiolCys	638 → 884	Ubiquitin-activating enzyme active site	Domain
PF09358	E1_UFD	955 → 1053	Ubiquitin fold domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). Ubiquitous. {ECO:0000269|PubMed:1986373}.

Sequence

MSSSPLSKKRRVSGPDPKPGSNCSPAQSVLSEVPSVPTNGMAKNGSEADIDEGLYSRQLY
VLGHEAMKRLQTSSVLVSGLRGLGVEIAKNIILGGVKAVTLHDQGTAQWADLSSQFYLRE
EDIGKNRAEVSQPRLAELNSYVPVTAYTGPLVEDFLSGFQVVVLTNTPLEDQLRVGEFCH
NRGIKLVVADTRGLFGQLFCDFGEEMILTDSNGEQPLSAMVSMVTKDNPGVVTCLDEARH
GFESGDFVSFSEVQGMVELNGNQPMEIKVLGPYTFSICDTSNFSDYIRGGIVSQVKVPKK
ISFKSLVASLAEPDFVVTDFAKFSRPAQLHIGFQALHQFCAQHGRPPRPRNEEDAAELVA
LAQAVNARALPAVQQNNLDEDLIRKLAYVAAGDLAPINAFIGGLAAQEVMKACSGKFMPI
MQWLYFDALECLPEDKEVLTEDKCLQRQNRYDGQVAVFGSDLQEKLGKQKYFLVGAGAIG
CELLKNFAMIGLGCGEGGEIIVTDMDTIEKSNLNRQFLFRPWDVTKLKSDTAAAAVRQMN
PHIRVTSHQNRVGPDTERIYDDDFFQNLDGVANALDNVDARMYMDRRCVYYRKPLLESGT
LGTKGNVQVVIPFLTESYSSSQDPPEKSIPICTLKNFPNAIEHTLQWARDEFEGLFKQPA
ENVNQYLTDPKFVERTLRLAGTQPLEVLEAVQRSLVLQRPQTWADCVTWACHHWHTQYSN
NIRQLLHNFPPDQLTSSGAPFWSGPKRCPHPLTFDVNNPLHLDYVMAAANLFAQTYGLTG
SQDRAAVATFLQSVQVPEFTPKSGVKIHVSDQELQSANASVDDSRLEELKATLPSPDKLP
GFKMYPIDFEKDDDSNFHMDFIVAASNLRAENYDIPSADRHKSKLIAGKIIPAIATTTAA
VVGLVCLELYKVVQGHRQLDSYKNGFLNLALPFFGFSEPLAAPRHQYYNQEWTLWDRFEV
QGLQPNGEEMTLKQFLDYFKTEHKLEITMLSQGVSMLYSFFMPAAKLKERLDQPMTEIVS
RVSKRKLGRHVRALVLELCCNDESGEDVEVPYVRYTIR

Sequence length

1058

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Parkinson disease Pathways of neurodegeneration - multiple diseases		Synthesis of active ubiquitin: roles of E1 and E2 enzymes Antigen processing: Ubiquitination & Proteasome degradation

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Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign; Uncertain significance	rs141814896, rs782429883	RCV005917441 RCV005902040
Cholangiocarcinoma	Benign	rs7877968	RCV005904072
Colorectal cancer	Benign; Likely benign	rs145283250	RCV005896776
Familial cancer of breast	Likely benign	rs141814896	RCV005917440
Infantile-onset X-linked spinal muscular atrophy	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs1556788006, rs782434472, rs1936419804, rs782554153, rs1936888439, rs782649232, rs782527493, rs1936887844, rs1936314065, rs781969406, rs1157237217, rs782051479, rs1936478450, rs1936856451, rs1164940967 View all (463 more)	RCV001312513 RCV001321247 RCV001325489 RCV001325437 RCV001312952 RCV001312347 RCV001315972 RCV001334132 RCV001344606 RCV001351762 RCV001350116 RCV001338582 RCV001339905 RCV001350545 RCV001346477 RCV001363701 RCV001369650 RCV001374013 RCV001393739 RCV001399220 RCV001411000 RCV001418560 RCV001393622 RCV001405024 RCV001394727 RCV001400322 RCV001418372 RCV001414428 RCV001415707 RCV001448388 RCV001422502 RCV001425925 RCV001424615 RCV001421841 RCV001443378 RCV001440435 RCV001447563 RCV001432887 RCV001428475 RCV001440613 RCV001422301 RCV001424935 RCV001462938 RCV001450358 RCV001463392 RCV001458865 RCV001465618 RCV001502486 RCV001487849 RCV001480246 RCV001505262 RCV001514718 RCV001519018 RCV001522361 RCV001523373 RCV001516056 RCV001514749 RCV001514539 RCV001522934 RCV001514844 RCV001514815 RCV001510796 RCV002539756 RCV003771873 RCV002540691 RCV002482286 RCV001868761 RCV005095100 RCV001962623 RCV001992886 RCV001973997 RCV001892624 RCV002050372 RCV001881440 RCV001937016 RCV001985809 RCV001934531 RCV001897964 RCV001905201 RCV002010622 RCV002002167 RCV001882367 RCV001901072 RCV001898654 RCV001892327 RCV001984860 RCV002001704 RCV001999504 RCV001957186 RCV002040387 RCV002034896 RCV001949847 RCV001979475 RCV002013455 RCV001930679 RCV001959882 RCV002003755 RCV001955037 RCV002039781 RCV001979353 RCV001981230 RCV002208343 RCV002093245 RCV002091274 RCV002148821 RCV002173663 RCV002110136 RCV002123028 RCV002124778 RCV002130842 RCV002170295 RCV002139142 RCV002195962 RCV002119946 RCV002217648 RCV002150058 RCV002183761 RCV002107686 RCV002158530 RCV002084799 RCV002197717 RCV002157066 RCV002087125 RCV002103568 RCV002129835 RCV002136803 RCV002206374 RCV002186799 RCV002106225 RCV002154883 RCV002117964 RCV002075180 RCV002185016 RCV002101438 RCV002153434 RCV002191126 RCV002207759 RCV002080665 RCV002080689 RCV002132132 RCV002078912 RCV002105796 RCV002297807 RCV003621624 RCV003099688 RCV003776537 RCV003509756 RCV003101796 RCV003060292 RCV003074845 RCV003085643 RCV003085689 RCV003089261 RCV003091602 RCV003091085 RCV003095355 RCV002611233 RCV002620094 RCV002633462 RCV002638028 RCV002629057 RCV002624261 RCV002633234 RCV002620700 RCV002651211 RCV002624570 RCV003121086 RCV003121087 RCV003107138 RCV003118424 RCV003115856 RCV002630311 RCV002589887 RCV002608418 RCV002590692 RCV002609948 RCV002666997 RCV002680672 RCV002662817 RCV002646587 RCV002650716 RCV002694808 RCV002695519 RCV002705876 RCV002696176 RCV002686022 RCV002686180 RCV002720145 RCV002750794 RCV002721634 RCV002740833 RCV002761522 RCV002797092 RCV002824745 RCV002838034 RCV002834734 RCV002862894 RCV002871989 RCV002876824 RCV002851965 RCV002867467 RCV002895639 RCV002899585 RCV002917530 RCV002933469 RCV002918344 RCV002966656 RCV002970682 RCV003001808 RCV002999051 RCV002985663 RCV002976638 RCV003025801 RCV003045563 RCV003039996 RCV003027881 RCV003139207 RCV003139208 RCV000010434 RCV000010435 RCV000010436 RCV003621696 RCV003337749 RCV003486283 RCV003486297 RCV003509900 RCV003510511 RCV003509923 RCV003509913 RCV003510880 RCV003510756 RCV003510933 RCV003511175 RCV003511347 RCV003511272 RCV003511199 RCV003511258 RCV003511415 RCV003511419 RCV003509097 RCV003509234 RCV003509216 RCV003509394 RCV003510141 RCV003510214 RCV003510252 RCV003621869 RCV003621824 RCV003621818 RCV003621820 RCV003621839 RCV003622449 RCV003622438 RCV003622440 RCV003622493 RCV003622606 RCV003622538 RCV003622563 RCV003622628 RCV003622533 RCV003622877 RCV003622990 RCV003623088 RCV003622967 RCV003623143 RCV003623262 RCV003623134 RCV003623291 RCV003623354 RCV003623343 RCV003623486 RCV003623762 RCV003623763 RCV003623778 RCV003623863 RCV003623814 RCV003623852 RCV003622057 RCV003622109 RCV003622099 RCV003622066 RCV003622067 RCV003622174 RCV003621997 RCV003622061 RCV003622063 RCV003622145 RCV003622355 RCV003622262 RCV003622285 RCV003622375 RCV003815094 RCV003830389 RCV003830694 RCV003837944 RCV003833951 RCV003829322 RCV003853407 RCV003843972 RCV003849981 RCV003858074 RCV003848792 RCV003851865 RCV003876095 RCV003876358 RCV003872752 RCV003870669 RCV003878907 RCV003879798 RCV003876787 RCV003877108 RCV003882658 RCV005064796 RCV000387393 RCV000392406 RCV000344795 RCV000353809 RCV000261437 RCV000296556 RCV000332834 RCV000293475 RCV000346007 RCV000287440 RCV000392412 RCV000302595 RCV000341212 RCV000301252 RCV000265712 RCV000320895 RCV000357217 RCV000317636 RCV000314272 RCV000370928 RCV000262304 RCV000372246 RCV000404330 RCV000356987 RCV002521838 RCV002522493 RCV002059616 RCV001520697 RCV001861629 RCV000540370 RCV000544070 RCV000546477 RCV001399699 RCV000528531 RCV000557966 RCV000559011 RCV000552081 RCV000535508 RCV000700483 RCV002065417 RCV002065407 RCV002066540 RCV002062870 RCV000865082 RCV002064325 RCV005056300 RCV000934507 RCV001462612 RCV002063281 RCV000918887 RCV000640822 RCV000952110 RCV000872075 RCV001442280 RCV000640810 RCV000640824 RCV000640813 RCV000640819 RCV000640823 RCV000640820 RCV000640811 RCV000640817 RCV000640815 RCV000640816 RCV000640812 RCV000640814 RCV000640821 RCV000640818 RCV000662101 RCV000700440 RCV000704064 RCV000701676 RCV000706706 RCV000694636 RCV000696150 RCV000793002 RCV000815998 RCV000797881 RCV000797702 RCV000811412 RCV000806516 RCV000802456 RCV000817123 RCV000811668 RCV000819019 RCV000816186 RCV000802942 RCV000813530 RCV000805242 RCV000815622 RCV000792171 RCV000804674 RCV003509615 RCV001084914 RCV002245698 RCV002062257 RCV000864858 RCV000876977 RCV000872012 RCV000877329 RCV000876302 RCV001513612 RCV000875377 RCV002064710 RCV000872433 RCV001514997 RCV000873345 RCV001510416 RCV002066344 RCV001512148 RCV001514362 RCV000952378 RCV005092911 RCV000973205 RCV003509625 RCV000910797 RCV001394013 RCV001398402 RCV001408250 RCV001467600 RCV000913281 RCV000918993 RCV001493952 RCV000917050 RCV000914059 RCV001401067 RCV001481900 RCV001426157 RCV001478674 RCV000931121 RCV001514130 RCV000935537 RCV000940837 RCV001469333 RCV000929026 RCV002544517 RCV001392299 RCV001450293 RCV000946223 RCV000980235 RCV001469364 RCV002550533 RCV001514263 RCV001034378 RCV001056969 RCV001038219 RCV001048239 RCV001057275 RCV001069758 RCV001055665 RCV001058492 RCV001049813 RCV001055975 RCV001069618 RCV001046497 RCV001169074 RCV001169075 RCV001169076 RCV001208937 RCV001166162 RCV001166656 RCV001168396 RCV001168397 RCV001169149 RCV001197277 RCV001198623 RCV001221460 RCV001222979 RCV001215817 RCV001215799 RCV001222437 RCV001211489 RCV001207231 RCV001207174 RCV001203682 RCV001201604 RCV001227969 RCV001232670 RCV001239702 RCV001247150 RCV001366437 RCV001304077 RCV001296725 RCV001300608 RCV001303078 RCV001306843
Lung cancer	Benign	rs7877968	RCV005904073
Malignant tumor of esophagus	Benign	rs7877968, rs7886193	RCV005904068 RCV005904065
Malignant tumor of urinary bladder	Benign; Likely benign	rs150574055	RCV005900617
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs200692291, rs1936511042, rs145283250, rs373305404	RCV005924352 RCV005930451 RCV005896775 RCV005903175
Ovarian cancer	Likely benign	rs141814896	RCV005917442
Ovarian serous cystadenocarcinoma	Benign	rs7877968	RCV005904070
Sarcoma	Likely benign; Benign	rs141814896, rs7877968, rs7886193	RCV005917443 RCV005904069 RCV005904066
Thymoma	Benign	rs149947901, rs7877968	RCV005900199 RCV005904071
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs1936511042, rs2521622747, rs868922840	RCV005930452 RCV005928662 RCV005898122
UBA1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs782565505, rs371005753, rs782722368, rs781818688, rs2521657429, rs186224021, rs1355268884, rs1214739557, rs147825775, rs369843264, rs150574055, rs143044923, rs372842152, rs139492208, rs1488418187 View all (6 more)	RCV003983931 RCV003956159 RCV003950988 RCV003926453 RCV003391544 RCV003408350 RCV003901390 RCV003913971 RCV003902452 RCV003957880 RCV003932525 RCV003957881 RCV003970197 RCV003905390 RCV003935667 RCV003948180 RCV003935841 RCV003960424 RCV003950842 RCV003411963 RCV003405435
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs141814896, rs7886193	RCV005917444 RCV005904067
VEXAS	Conflicting classifications of pathogenicity	rs1936307795, rs782416867	RCV001261200 RCV001261202 RCV001261201
VEXAS syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1341394275, rs2147250370, rs2147250287, rs781996319, rs1556787651, rs1556792891, rs781813468, rs150574055, rs1936307795, rs782416867	RCV005394985 RCV001726682 RCV001726683 RCV002482286 RCV002479695 RCV005392678 RCV003991703 RCV002488833 RCV001265106 RCV001265107 RCV001265108

Show/Hide Text Mining Associations (53)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis	Associate	34046042, 37666646
Arthrogryposis multiplex congenita distal X linked	Associate	18179898, 33513289
Bone Marrow Failure Disorders	Associate	37084382
Brain Neoplasms	Associate	39183260
Carcinoma Hepatocellular	Associate	32132870
Colorectal Neoplasms	Stimulate	37417208
Digestive System Neoplasms	Associate	39183260
Exanthema	Associate	34046042
Fever	Associate	33108101, 37666646, 38552317
Genetic Diseases X Linked	Associate	36578047
Genital Diseases Male	Associate	36823397
Giant Cell Arteritis	Associate	33108101
Hematologic Diseases	Associate	33108101, 35757758, 36823397, 38360993
Hematologic Neoplasms	Associate	36823397
Hereditary Autoinflammatory Diseases	Associate	33108101, 34427584, 34495287, 34632574, 34817788, 37532466, 37666646, 38225170, 38291039
Immune System Diseases	Associate	37325673
Inflammation	Associate	33108101, 34817788, 35757758, 36823397, 37084382, 37586319, 38552317, 40313994, 40394087
Late Onset Disorders	Associate	33108101
Leukemia Myeloid Acute	Associate	39183260
Lung Neoplasms	Associate	38360993
Lymphoma Large B Cell Diffuse	Associate	39183260
Macrophage Activation Syndrome	Associate	34046042
Megalencephalic leukoencephalopathy with subcortical cysts	Associate	33108101, 34427584, 36578047, 38291039
Mesothelioma Malignant	Associate	37108544
Mouth Diseases	Associate	37666646
Multi centric Castleman's Disease	Associate	34046042
Muscular Atrophy Spinal	Associate	33513289, 38360993
Muscular Diseases	Associate	33513289
Myelodysplastic Syndromes	Associate	33108101, 34427584, 34632574, 35757758, 35769485, 37084382
Neoplasms	Associate	32132870, 39183260
Pneumonia	Associate	33108101, 38552317
Polyarteritis Nodosa	Associate	33108101
Polychondritis Relapsing	Associate	33108101, 38167209
Positive Pressure Respiration Intrinsic	Associate	38291039
Pulmonary Embolism	Associate	38306657
Rett Syndrome	Associate	10745042
Rheumatic Diseases	Associate	36692560
Signs and Symptoms Respiratory	Associate	37062498
Skin Diseases	Associate	34495287
Skin Manifestations	Associate	34427584, 37666646
Small Cell Lung Carcinoma	Associate	35165102
Spasms Infantile	Associate	29667327
Sweet Syndrome	Associate	33108101, 34495287, 38552317
Syndrome	Associate	34046042, 36578047, 40394087
Systemic Inflammatory Response Syndrome	Associate	33108101
Thrombosis	Associate	34817788
Thyroid Cancer Papillary	Associate	32065787
Tietze's Syndrome	Associate	33108101, 34632574
Turner Syndrome	Associate	7760319
Vascular Diseases	Associate	34817788
Vasculitis	Associate	33108101
Venous Thromboembolism	Associate	34817788
VEXAS syndrome	Associate	33108101, 34046042, 34427584, 34495287, 34632574, 34649277, 34817788, 35126364, 35239266, 35757758, 35769485, 36549759, 36578047, 36692560, 36823397 View all (21 more)

UBA1 (ubiquitin like modifier activating enzyme 1)