UBA5
Ubiquitin-like modifier-activating enzyme 5
Also known as: FLJ23251, UBA5_HUMAN, UBE1DC1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9GZZ9
- Gene
- UBA5
- Ensembl
- ENSG00000081307
- Chromosome
- 3
- Canonical length
- 404 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Vesicles,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
Canonical amino-acid sequenceUniProt
404 residues, UniProt reviewed canonical sequence.
>Q9GZZ9|UBA5
1 MAESVERLQQ RVQELERELA QERSLQVPRS GDGGGGRVRI EKMSSEVVDS NPYSRLMALK
61 RMGIVSDYEK IRTFAVAIVG VGGVGSVTAE MLTRCGIGKL LLFDYDKVEL ANMNRLFFQP
121 HQAGLSKVQA AEHTLRNINP DVLFEVHNYN ITTVENFQHF MDRISNGGLE EGKPVDLVLS
181 CVDNFEARMT INTACNELGQ TWMESGVSEN AVSGHIQLII PGESACFACA PPLVVAANID
241 EKTLKREGVC AASLPTTMGV VAGILVQNVL KFLLNFGTVS FYLGYNAMQD FFPTMSMKPN
301 PQCDDRNCRK QQEEYKKKVA ALPKQEVIQE EEEIIHEDNE WGIELVSEVS EEELKNFSGP
361 VPDLPEGITV AYTIPKKQED SVTELTVEDS GESLEDLMAK MKNMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UBA5 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 49 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 49 nTPM
- salivary gland: 45 nTPM
- liver: 30 nTPM
- thyroid gland: 30 nTPM
- skeletal muscle: 29 nTPM
- kidney: 29 nTPM
Single-cell type
- late spermatids: 735 nCPM
- cardiomyocytes: 260 nCPM
- early spermatids: 170 nCPM
- breast lactating cells: 164 nCPM
- syncytiotrophoblasts: 146 nCPM
- choroid plexus epithelial cells: 134 nCPM
Immune cell
- NK-cell: 26 nTPM
- plasmacytoid DC: 19 nTPM
- memory CD8 T-cell: 19 nTPM
- naive CD8 T-cell: 16 nTPM
- naive CD4 T-cell: 16 nTPM
- myeloid DC: 16 nTPM
Brain region
- choroid plexus: 64 nTPM
- basal ganglia: 35 nTPM
- cerebral cortex: 34 nTPM
- white matter: 33 nTPM
- hypothalamus: 32 nTPM
- cerebellum: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UBA5.
Disease | AllUniProt
Conditions UBA5 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 44 (DEE44) MIM:617132
- Spinocerebellar ataxia, autosomal recessive, 24 (SCAR24) MIM:617133
Disease | GeneticClinVar
40 pathogenic / likely-pathogenic of 290 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 44
- Spinocerebellar ataxia, autosomal recessive 24
- UBA5-related disorder
- Developmental and epileptic encephalopathy
- Intellectual disability
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)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.29
- DepMap mean gene effect
- -0.53
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- erythrocyte differentiation
- megakaryocyte differentiation
- neuromuscular process
- protein K69-linked ufmylation
- protein ufmylation
- regulation of intracellular estrogen receptor signaling pathway
- regulation of type II interferon production
- response to endoplasmic reticulum stress
- reticulophagy
Molecular functions
- ATP binding
- protein homodimerization activity
- zinc ion binding
- UFM1 activating enzyme activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UBA5 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 UBA5 as an antibody target. Whether an autoantibody or antibody against UBA5 could matter depends on whether native UBA5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UBA5 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 UBA5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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