RPUSD4
Pseudouridylate synthase RPUSD4, mitochondrial
Also known as: FLJ14494, RUSD4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96CM3
- Gene
- RPUSD4
- Ensembl
- ENSG00000165526
- Chromosome
- 11
- Canonical length
- 377 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
Enables mitochondrial ribosomal large subunit rRNA binding activity; pseudouridine synthase activity; and tRNA binding activity. Involved in positive regulation of mitochondrial translation and pseudouridine synthesis. Located in mitochondrial matrix; nucleoplasm; and ribonucleoprotein granule. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
377 residues, UniProt reviewed canonical sequence.
>Q96CM3|RPUSD4
1 MAAPRWSASG PWIRGNGQGC GSLFTLVSKP FCAAAAASTA INAQRLAEKL RAQKREQDTK
61 KEPVSTNAVQ RRVQEIVRFT RQLQRVHPNV LAKALTRGIL HQDKNLVVIN KPYGLPVHGG
121 PGVQLCITDV LPILAKMLHG HKAEPLHLCH RLDKETTGVM VLAWDKDMAH QVQELFRTRQ
181 VVKKYWAITV HVPMPSAGVV DIPIVEKEAQ GQQQHHKMTL SPSYRMDDGK MVKVRRSRNA
241 QVAVTQYQVL SSTLSSALVE LQPITGIKHQ LRVHLSFGLD CPILGDHKYS DWNRLAPQKL
301 SVGTLKKLGL EQSKARYIPL HLHARQLILP ALGSGKEELN LVCKLPRFFV HSLHRLRLEM
361 PNEDQNENNE AKCLGAQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RPUSD4 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
- 127 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 127 nTPM
- tongue: 70 nTPM
- pancreas: 26 nTPM
- heart muscle: 26 nTPM
- liver: 20 nTPM
- stomach: 19 nTPM
Single-cell type
- myonuclei: 56 nCPM
- esophageal basal cells: 35 nCPM
- basal keratinocytes: 28 nCPM
- paneth cells: 27 nCPM
- parietal cells: 27 nCPM
- differentiating spermatogonia: 26 nCPM
Immune cell
- naive CD4 T-cell: 21 nTPM
- MAIT T-cell: 20 nTPM
- T-reg: 18 nTPM
- memory CD4 T-cell: 18 nTPM
- naive CD8 T-cell: 17 nTPM
- myeloid DC: 16 nTPM
Brain region
- choroid plexus: 11 nTPM
- spinal cord: 11 nTPM
- hypothalamus: 10 nTPM
- pons: 10 nTPM
- cerebellum: 10 nTPM
- basal ganglia: 10 nTPM
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)
- 1.16
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.4
- DepMap mean gene effect
- -0.34
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mitochondrial tRNA pseudouridine synthesis
- mRNA processing
- mRNA pseudouridine synthesis
- positive regulation of mitochondrial translation
- RNA splicing
- rRNA modification
- rRNA pseudouridine synthesis
Molecular functions
- mitochondrial ribosomal large subunit rRNA binding
- pseudouridine synthase activity
- RNA binding
- tRNA binding
- tRNA pseudouridine synthase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RPUSD4 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 RPUSD4 as an antibody target. Whether an autoantibody or antibody against RPUSD4 could matter depends on whether native RPUSD4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RPUSD4 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 RPUSD4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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