Seroatlas · Human Serome Atlas

PUS1

Pseudouridylate synthase 1 homolog

Also known as: MLASA1, PUS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9Y606
Gene
PUS1
Ensembl
ENSG00000177192
Chromosome
12
Canonical length
427 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

427 residues, UniProt reviewed canonical sequence.

>Q9Y606|PUS1
     1  MGLQLRALLG AFGRWTLRLG PRPSCSPRMA GNAEPPPAGA ACPQDRRSCS GRAGGDRVWE
    61  DGEHPAKKLK SGGDEERREK PPKRKIVLLM AYSGKGYHGM QRNVGSSQFK TIEDDLVSAL
   121  VRSGCIPENH GEDMRKMSFQ RCARTDKGVS AAGQVVSLKV WLIDDILEKI NSHLPSHIRI
   181  LGLKRVTGGF NSKNRCDART YCYLLPTFAF AHKDRDVQDE TYRLSAETLQ QVNRLLACYK
   241  GTHNFHNFTS QKGPQDPSAC RYILEMYCEE PFVREGLEFA VIRVKGQSFM MHQIRKMVGL
   301  VVAIVKGYAP ESVLERSWGT EKVDVPKAPG LGLVLERVHF EKYNQRFGND GLHEPLDWAQ
   361  EEGKVAAFKE EHIYPTIIGT ERDERSMAQW LSTLPIHNFS ATALTAGGTG AKVPSPLEGS
   421  EGDGDTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PUS1 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)
0.37
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 21 nTPM
  • liver: 20 nTPM
  • lymph node: 17 nTPM
  • esophagus: 16 nTPM
  • spleen: 15 nTPM
  • pancreas: 14 nTPM

Single-cell type

  • esophageal basal cells: 40 nCPM
  • erythrocyte progenitors: 36 nCPM
  • adrenal medulla cells: 32 nCPM
  • basal keratinocytes: 32 nCPM
  • differentiating spermatogonia: 30 nCPM
  • megakaryocyte progenitors: 26 nCPM

Immune cell

  • NK-cell: 5.6 nTPM
  • memory B-cell: 4.6 nTPM
  • naive B-cell: 4.1 nTPM
  • plasmacytoid DC: 3 nTPM
  • naive CD4 T-cell: 2.4 nTPM
  • memory CD8 T-cell: 2 nTPM

Brain region

  • amygdala: 29 nTPM
  • cerebral cortex: 29 nTPM
  • hippocampal formation: 26 nTPM
  • white matter: 26 nTPM
  • basal ganglia: 26 nTPM
  • cerebellum: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PUS1.

Disease | AllUniProt

Conditions PUS1 is implicated in, by any mechanism.

  • Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) MIM:600462

Disease | GeneticClinVar

78 pathogenic / likely-pathogenic of 696 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.86
gnomAD pLI
0
gnomAD missense Z
0.29
DepMap mean gene effect
-0.09
DepMap dependency class
selective

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

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PUS1 as an antibody target. Whether an autoantibody or antibody against PUS1 could matter depends on whether native PUS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PUS1 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 PUS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PUS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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