Seroatlas · Human Serome Atlas

RPUSD3

Mitochondrial mRNA pseudouridine synthase RPUSD3

Also known as: MGC29784, RUSD3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6P087
Gene: RPUSD3
Ensembl: ENSG00000156990
Chromosome: 3
Canonical length: 351 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

351 residues, UniProt reviewed canonical sequence.

>Q6P087|RPUSD3
     1  MRAVLAREMD GRRVLGRFWS GWRRGLGVRP VPEDAGFGTE ARHQRQPRGS CQRSGPLGDQ
    61  PFAGLLPKNL SREELVDALR AAVVDRKGPL VTLNKPQGLP VTGKPGELTL FSVLPELSQS
   121  LGLREQELQV VRASGKESSG LVLLSSCPQT ASRLQKYFTH ARRAQRPTAT YCAVTDGIPA
   181  ASEGKIQAAL KLEHIDGVNL TVPVKAPSRK DILEGVKKTL SHFRVVATGS GCALVQLQPL
   241  TVFSSQLQVH MVLQLCPVLG DHMYSARVGT VLGQRFLLPA ENNKPQRQVL DEALLRRLHL
   301  TPSQAAQLPL HLHLHRLLLP GTRARDTPVE LLAPLPPYFS RTLQCLGLRL Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RPUSD3 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): 0.36
Highest tissue expression: 70 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 70 nTPM
testis: 52 nTPM
tongue: 45 nTPM
heart muscle: 35 nTPM
cerebral cortex: 32 nTPM
esophagus: 31 nTPM

Single-cell type

late primary spermatocytes: 177 nCPM
megakaryocytes: 80 nCPM
esophageal apical cells: 80 nCPM
late spermatids: 76 nCPM
esophageal suprabasal cells: 73 nCPM
early spermatids: 67 nCPM

Immune cell

NK-cell: 86 nTPM
T-reg: 66 nTPM
classical monocyte: 51 nTPM
memory B-cell: 51 nTPM
myeloid DC: 47 nTPM
naive CD4 T-cell: 47 nTPM

Brain region

cerebral cortex: 34 nTPM
hippocampal formation: 30 nTPM
hypothalamus: 30 nTPM
white matter: 29 nTPM
basal ganglia: 29 nTPM
thalamus: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RPUSD3.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 78 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Inborn genetic diseases

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): 1.1
gnomAD pLI: 0
gnomAD missense Z: -0.5
DepMap mean gene effect: -0.19
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RPUSD3 as an antibody target. Whether an autoantibody or antibody against RPUSD3 could matter depends on whether native RPUSD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RPUSD3 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 RPUSD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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