UBA1

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Ubiquitin-like modifier activating enzyme 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols UBA1 ; A1S9; A1S9T; A1ST; AMCX1; GXP1; POC20; SMAX2; UBA1A; UBE1; UBE1X
External IDs OMIM314370 MGI98890 HomoloGene22002 GeneCards: UBA1 Gene
EC number 6.3.2.19
Orthologs
Species Human Mouse
Entrez 7317 22201
Ensembl ENSG00000130985 ENSMUSG00000001924
UniProt P22314 Q02053
RefSeq (mRNA) NM_003334 NM_001136085
RefSeq (protein) NP_003325 NP_001129557
Location (UCSC) Chr X:
47.05 – 47.07 Mb
Chr X:
20.66 – 20.68 Mb
PubMed search [1] [2]

Ubiquitin-like modifier activating enzyme 1 (UBA1) is an enzyme which in humans is encoded by the UBA1 gene.[1][2]

Function[edit]

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 part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described.[1]

Mutations in UBA1 are associated with X-linked spinal muscular atrophy type 2.[1]

References[edit]

  1. ^ a b c "Entrez Gene: ubiquitin-like modifier activating enzyme 1". 
  2. ^ Kudo M, Sugasawa K, Hori T, Enomoto T, Hanaoka F, Ui M (January 1991). "Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome". Exp. Cell Res. 192 (1): 110–7. doi:10.1016/0014-4827(91)90164-P. PMID 1845793. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.