full name
ubiquitin like modifier activating enzyme 1

synonyms
A1S9, A1S9T, A1ST, AMCX1, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, UBA1, ENSG00000130985

HGNC
HGNC:12469

Entrez Gene
Gene:7317

ENSEMBL
ENSG00000130985
ENSG00000271310

location
chr: X
start: 47050199
stop: 47074527
strand: +

OMIM
OMIM:314370: UBA1 (X-linked recessive inheritance)
OMIM:301830: Spinal muscular atrophy, X-linked 2, infantile

transcripts
NM_153280.2
NM_003334.3

pathways
Adaptive Immune System [NCBI:1269171] [REACTOME:R-HSA-1280218] [PUBMED:16551257] [PUBMED:21682741] [PUBMED:11861602]
Antigen processing: Ubiquitination & Proteasome degradation [NCBI:1269193] [REACTOME:R-HSA-983168] [PUBMED:12648452] [PUBMED:11917093] [PUBMED:19489725] [PUBMED:14734113] [PUBMED:20351195] [PUBMED:17145306]
Class I MHC mediated antigen processing & presentation [NCBI:1269192] [REACTOME:R-HSA-983169] [PUBMED:8717519] [PUBMED:17145306] [PUBMED:18926908] [PUBMED:17055423] [PUBMED:12495737] [PUBMED:18641646] [PUBMED:18243674]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Parkinson's disease [NCBI:83098] [KEGG:hsa05012] [PUBMED:15767499] [PUBMED:12461550] [PUBMED:21811441] [PUBMED:17911161] [PUBMED:15525720] [PUBMED:16022590] [PUBMED:12971891] [PUBMED:15681812] [PUBMED:16495942] [PUBMED:11331916] [PUBMED:18426756] [PUBMED:16278972] [PUBMED:18680555] [PUBMED:12938733] [PUBMED:15770999] [PUBMED:12728264] [PUBMED:15054086] [PUBMED:20236221] [PUBMED:22927178]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Protein ubiquitination [NCBI:1457808] [REACTOME:R-HSA-8852135] [PUBMED:23912815] [PUBMED:17588513] [PUBMED:25175772] [PUBMED:19940261] [PUBMED:19775879] [PUBMED:23624913] [PUBMED:23657496] [PUBMED:23800009] [PUBMED:22708562] [PUBMED:26235645] [PUBMED:25833379] [PUBMED:26187467] [PUBMED:24699078] [PUBMED:26085183] [PUBMED:21883762] [PUBMED:23747565] [PUBMED:27002219] [PUBMED:27312108] [PUBMED:19436320] [PUBMED:23061719] [PUBMED:24457024] [PUBMED:24652853] [PUBMED:23732108] [PUBMED:22389392] [PUBMED:19754430] [PUBMED:19489725] [PUBMED:25815272]
Synthesis of active ubiquitin: roles of E1 and E2 enzymes [NCBI:1457809] [REACTOME:R-HSA-8866652] [PUBMED:26235645] [PUBMED:24457024] [PUBMED:27002219] [PUBMED:17597759] [PUBMED:19940261] [PUBMED:6277905] [PUBMED:6305978]
Ubiquitin mediated proteolysis [NCBI:83056] [KEGG:hsa04120] [PUBMED:16405856] [PUBMED:12944364] [PUBMED:16922408] [PUBMED:17588513] [PUBMED:16922367] [PUBMED:16922370] [PUBMED:16816840]
protein ubiquitylation [NCBI:1208955] [BIOCYC:HUMAN_PWY-7511]