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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile-onset X-linked spinal muscular atrophy	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, X-LINKED 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UBA1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEXAS	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEXAS syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (62)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis	Arthritis	Pubtator	34046042, 37666646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis multiplex congenita, distal, X-linked	Arthrogryposis multiplex congenita	UNIPROT_DG	18179898, 23518311		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita, distal, X-linked	Arthrogryposis multiplex congenita	ORPHANET_DG	18179898		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita, distal, X-linked	Arthrogryposis multiplex congenita	BEFREE	23518311, 26028276		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita, distal, X-linked	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	23518311		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita, distal, X-linked	Arthrogryposis multiplex congenita	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita, distal, X-linked	Arthrogryposis multiplex congenita	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	37084382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	39183260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32132870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37417208	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	39183260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	34046042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	33108101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30249396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	33108101, 35757758, 36823397, 38360993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36823397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	18179898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37325673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile-onset X-linked spinal muscular atrophy	Spinal Muscular Atrophy, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39183260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38360993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	37108544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37666646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29548576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	33513289, 38360993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	33108101, 34427584, 34632574, 35757758, 35769485, 37084382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	10745042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	10745042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28661933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	34495287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35165102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29667327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal Muscular Atrophy	LHGDN	18179898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	23518311, 24590288, 26028276, 27699224, 28635376, 30239612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	19014429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet syndrome	Pubtator	33108101, 34495287, 38552317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	34817788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32065787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tietze's Syndrome	Tietz syndrome	Pubtator	33108101, 34632574	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27626685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	7760319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34817788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	33108101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	34817788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VEXAS syndrome	Vexas syndrome	Pubtator	33108101, 34046042, 34427584, 34495287, 34632574, 34649277, 34817788, 35126364, 35239266, 35757758, 35769485, 36549759, 36578047, 36692560, 36823397 View all (21 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

UBA1 (ubiquitin like modifier activating enzyme 1)