UBA1
Ubiquitin-like modifier-activating enzyme 1
Also known as: A1S9T, CFAP124, GXP1, POC20, UBA1_HUMAN, UBE1, UBE1X
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P22314
- Gene
- UBA1
- Ensembl
- ENSG00000130985
- Chromosome
- X
- Canonical length
- 1058 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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 part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1058 residues, UniProt reviewed canonical sequence.
>P22314|UBA1
1 MSSSPLSKKR RVSGPDPKPG SNCSPAQSVL SEVPSVPTNG MAKNGSEADI DEGLYSRQLY
61 VLGHEAMKRL QTSSVLVSGL RGLGVEIAKN IILGGVKAVT LHDQGTAQWA DLSSQFYLRE
121 EDIGKNRAEV SQPRLAELNS YVPVTAYTGP LVEDFLSGFQ VVVLTNTPLE DQLRVGEFCH
181 NRGIKLVVAD TRGLFGQLFC DFGEEMILTD SNGEQPLSAM VSMVTKDNPG VVTCLDEARH
241 GFESGDFVSF SEVQGMVELN GNQPMEIKVL GPYTFSICDT SNFSDYIRGG IVSQVKVPKK
301 ISFKSLVASL AEPDFVVTDF AKFSRPAQLH IGFQALHQFC AQHGRPPRPR NEEDAAELVA
361 LAQAVNARAL PAVQQNNLDE DLIRKLAYVA AGDLAPINAF IGGLAAQEVM KACSGKFMPI
421 MQWLYFDALE CLPEDKEVLT EDKCLQRQNR YDGQVAVFGS DLQEKLGKQK YFLVGAGAIG
481 CELLKNFAMI GLGCGEGGEI IVTDMDTIEK SNLNRQFLFR PWDVTKLKSD TAAAAVRQMN
541 PHIRVTSHQN RVGPDTERIY DDDFFQNLDG VANALDNVDA RMYMDRRCVY YRKPLLESGT
601 LGTKGNVQVV IPFLTESYSS SQDPPEKSIP ICTLKNFPNA IEHTLQWARD EFEGLFKQPA
661 ENVNQYLTDP KFVERTLRLA GTQPLEVLEA VQRSLVLQRP QTWADCVTWA CHHWHTQYSN
721 NIRQLLHNFP PDQLTSSGAP FWSGPKRCPH PLTFDVNNPL HLDYVMAAAN LFAQTYGLTG
781 SQDRAAVATF LQSVQVPEFT PKSGVKIHVS DQELQSANAS VDDSRLEELK ATLPSPDKLP
841 GFKMYPIDFE KDDDSNFHMD FIVAASNLRA ENYDIPSADR HKSKLIAGKI IPAIATTTAA
901 VVGLVCLELY KVVQGHRQLD SYKNGFLNLA LPFFGFSEPL AAPRHQYYNQ EWTLWDRFEV
961 QGLQPNGEEM TLKQFLDYFK TEHKLEITML SQGVSMLYSF FMPAAKLKER LDQPMTEIVS
1021 RVSKRKLGRH VRALVLELCC NDESGEDVEV PYVRYTIRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UBA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 190 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 190 nTPM
- choroid plexus: 169 nTPM
- thyroid gland: 152 nTPM
- adrenal gland: 150 nTPM
- esophagus: 149 nTPM
- kidney: 139 nTPM
Single-cell type
- esophageal apical cells: 225 nCPM
- esophageal suprabasal cells: 157 nCPM
- colonocytes: 124 nCPM
- neutrophils: 122 nCPM
- adrenal cortex cells: 120 nCPM
- alveolar cells type 1: 118 nCPM
Immune cell
- intermediate monocyte: 51 nTPM
- non-classical monocyte: 50 nTPM
- neutrophil: 45 nTPM
- myeloid DC: 43 nTPM
- eosinophil: 41 nTPM
- T-reg: 40 nTPM
Brain region
- choroid plexus: 236 nTPM
- white matter: 198 nTPM
- cerebral cortex: 192 nTPM
- thalamus: 187 nTPM
- pons: 182 nTPM
- medulla oblongata: 179 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UBA1.
Disease | AllUniProt
Conditions UBA1 is implicated in, by any mechanism.
- Spinal muscular atrophy X-linked 2 (SMAX2) MIM:301830
- VEXAS syndrome (VEXAS) MIM:301054
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.48
- DepMap mean gene effect
- -1.75
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ubiquitin/SUMO-activating enzyme E1-like
- THIF-type NAD/FAD binding fold
- Ubiquitin-activating enzyme E1, conserved site
- Ubiquitin-activating enzyme E1
- Ubiquitin-activating enzyme E1, C-terminal
- Ubiquitin-activating enzyme, SCCH domain
- Ubiquitin-activating enzyme E1, FCCH domain
- Ubiquitin-activating enzyme E1, four-helix bundle
- Ubiquitin-activating enzyme E1, Cys active site
- Ubiquitin-activating enzyme-like
- Ubiquitin-activating enzyme E1, C-terminal domain superfamily
- Ubiquitin-activating enzyme E1, SCCH domain
- Ubiquitin-activating enzyme E1, FCCH domain superfamily
- Ubiquitin-activating enzyme E1, inactive adenylation domain, subdomain 1
- ThiF/MoeB/HesA family
- ThiF family
- Ubiquitin fold domain
- Ubiquitin-activating enzyme, SCCH domain
- Ubiquitin-activating enzyme E1 FCCH domain
- Ubiquitin-activating enzyme E1 four-helix bundle
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UBA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UBA1 as an antibody target. Whether an autoantibody or antibody against UBA1 could matter depends on whether native UBA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UBA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label UBA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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