Seroatlas · Human Serome Atlas

PUS3

tRNA pseudouridine(38/39) synthase

Also known as: DEG1, FKSG32, PUS3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BZE2
Gene: PUS3
Ensembl: ENSG00000110060
Chromosome: 11
Canonical length: 481 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

481 residues, UniProt reviewed canonical sequence.

>Q9BZE2|PUS3
     1  MAYNDTDRNQ TEKLLKRVRE LEQEVQRLKK EQAKNKEDSN IRENSAGAGK TKRAFDFSAH
    61  GRRHVALRIA YMGWGYQGFA SQENTNNTIE EKLFEALTKT RLVESRQTSN YHRCGRTDKG
   121  VSAFGQVISL DLRSQFPRGR DSEDFNVKEE ANAAAEEIRY THILNRVLPP DIRILAWAPV
   181  EPSFSARFSC LERTYRYFFP RADLDIVTMD YAAQKYVGTH DFRNLCKMDV ANGVINFQRT
   241  ILSAQVQLVG QSPGEGRWQE PFQLCQFEVT GQAFLYHQVR CMMAILFLIG QGMEKPEIID
   301  ELLNIEKNPQ KPQYSMAVEF PLVLYDCKFE NVKWIYDQEA QEFNITHLQQ LWANHAVKTH
   361  MLYSMLQGLD TVPVPCGIGP KMDGMTEWGN VKPSVIKQTS AFVEGVKMRT YKPLMDRPKC
   421  QGLESRIQHF VRRGRIEHPH LFHEEETKAK RDCNDTLEEE NTNLETPTKR VCVDTEIKSI
   481  I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PUS3 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): 0.35
Highest tissue expression: 31 nTPM

Expression across tissuesHPA

Tissue

liver: 31 nTPM
pancreas: 16 nTPM
tongue: 14 nTPM
skeletal muscle: 14 nTPM
thymus: 10 nTPM
duodenum: 10 nTPM

Single-cell type

hepatocytes: 36 nCPM
pancreatic acinar cells: 34 nCPM
cardiomyocytes: 29 nCPM
pancreatic islet cells: 26 nCPM
decidual stromal cells: 24 nCPM
smooth muscle cells: 19 nCPM

Immune cell

naive CD4 T-cell: 17 nTPM
naive CD8 T-cell: 16 nTPM
MAIT T-cell: 15 nTPM
NK-cell: 15 nTPM
T-reg: 15 nTPM
naive B-cell: 15 nTPM

Brain region

hypothalamus: 11 nTPM
cerebellum: 10 nTPM
cerebral cortex: 9.4 nTPM
midbrain: 9.3 nTPM
basal ganglia: 9.1 nTPM
medulla oblongata: 9.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PUS3.

Disease | AllUniProt

Conditions PUS3 is implicated in, by any mechanism.

Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS) MIM:617051

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Anencephaly
Abnormal heart morphology
Polyhydramnios
Ankle flexion contracture

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): 1.12
gnomAD pLI: 0
gnomAD missense Z: 0.13
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

pseudouridine synthase activity
RNA binding
tRNA pseudouridine(38/39) synthase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PUS3 as an antibody target. Whether an autoantibody or antibody against PUS3 could matter depends on whether native PUS3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PUS3 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 PUS3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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