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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7317
Gene name Gene Name - the full gene name approved by the HGNC.	Ubiquitin like modifier activating enzyme 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UBA1
Synonyms (NCBI Gene) Gene synonyms aliases	A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, VEXAS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SMAX2, VEXAS
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.3
Summary Summary of gene provided in NCBI Entrez Gene.	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(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000792	Component	Heterochromatin	IDA	1376922
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004839	Function	Ubiquitin activating enzyme activity	IBA	21873635
GO:0004839	Function	Ubiquitin activating enzyme activity	IDA	12629039, 21685362
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	21873635
GO:0005634	Component	Nucleus	IDA	1376922, 22456334
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	1376922
GO:0005739	Component	Mitochondrion	IDA	1376922
GO:0005765	Component	Lysosomal membrane	IDA	1376922
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0006974	Process	Cellular response to DNA damage stimulus	IBA	21873635
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	22456334
GO:0010008	Component	Endosome membrane	IDA	1376922
GO:0016567	Process	Protein ubiquitination	IBA	21873635
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030057	Component	Desmosome	IDA	1376922
GO:0030867	Component	Rough endoplasmic reticulum membrane	IDA	1376922
GO:0032446	Process	Protein modification by small protein conjugation	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145

MIM	HGNC	e!Ensembl
314370	12469	ENSG00000130985

Protein

UniProt ID

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

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Arthrogryposis multiplex congenita	Arthrogryposis, Arthrogryposis multiplex congenita, distal, X-linked	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)	18179898, 23518311
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	19014429
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361 View all (22 more)
Spinal muscular atrophy, x-linked	Infantile-onset X-linked spinal muscular atrophy	rs80356546, rs267606672, rs1557236729

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ptosis	Blepharoptosis, Ptosis			ClinVar

Show/Hide Text Mining Associations (53)

Disease Name	Relationship Type	References
Associations from Text Mining
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)