UBA1 (ubiquitin like modifier activating enzyme 1)

Gene

• Entrez ID: 7317
• Gene name: Ubiquitin like modifier activating enzyme 1
• Gene symbol: UBA1
• Synonyms: A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, VEXAS
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 314370
• HGNC: 12469
• e!Ensembl: 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

• Sequence:

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

• Sequence length: 1058

Pathways

KEGG:

Ubiquitin mediated proteolysis
Parkinson disease
Pathways of neurodegeneration - multiple diseases

Reactome:

Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627	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, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
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, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962
Spinal muscular atrophy, x-linked	Infantile-onset X-linked spinal muscular atrophy	rs80356546, rs267606672, rs1557236729

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Dolichocephaly	Long narrow head
Facial paralysis	Facial paralysis
Hypospadias	Hypospadias
Impaired cognition	Impaired cognition
Macrotia	Macrotia
Micrognathism	Micrognathism
Penis agenesis	Penis agenesis
Ptosis	Blepharoptosis, Ptosis	rs139920573
Strabismus	Strabismus