Seroatlas · Human Serome Atlas

PUS7

Pseudouridylate synthase 7 homolog

Also known as: FLJ20485, PUS7_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96PZ0
Gene
PUS7
Ensembl
ENSG00000091127
Chromosome
7
Canonical length
661 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

661 residues, UniProt reviewed canonical sequence.

>Q96PZ0|PUS7
     1  MEMTEMTGVS LKRGALVVED NDSGVPVEET KKQKLSECSL TKGQDGLQND FLSISEDVPR
    61  PPDTVSTGKG GKNSEAQLED EEEEEEDGLS EECEEEESES FADMMKHGLT EADVGITKFV
   121  SSHQGFSGIL KERYSDFVVH EIGKDGRISH LNDLSIPVDE EDPSEDIFTV LTAEEKQRLE
   181  ELQLFKNKET SVAIEVIEDT KEKRTIIHQA IKSLFPGLET KTEDREGKKY IVAYHAAGKK
   241  ALANPRKHSW PKSRGSYCHF VLYKENKDTM DAINVLSKYL RVKPNIFSYM GTKDKRAITV
   301  QEIAVLKITA QRLAHLNKCL MNFKLGNFSY QKNPLKLGEL QGNHFTVVLR NITGTDDQVQ
   361  QAMNSLKEIG FINYYGMQRF GTTAVPTYQV GRAILQNSWT EVMDLILKPR SGAEKGYLVK
   421  CREEWAKTKD PTAALRKLPV KRCVEGQLLR GLSKYGMKNI VSAFGIIPRN NRLMYIHSYQ
   481  SYVWNNMVSK RIEDYGLKPV PGDLVLKGAT ATYIEEDDVN NYSIHDVVMP LPGFDVIYPK
   541  HKIQEAYREM LTADNLDIDN MRHKIRDYSL SGAYRKIIIR PQNVSWEVVA YDDPKIPLFN
   601  TDVDNLEGKT PPVFASEGKY RALKMDFSLP PSTYATMAIR EVLKMDTSIK NQTQLNTTWL
   661  R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PUS7 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)
0.32
Highest tissue expression
9.8 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 9.8 nTPM
  • skin: 7.3 nTPM
  • esophagus: 7.2 nTPM
  • thyroid gland: 7.1 nTPM
  • breast: 6.9 nTPM
  • urinary bladder: 6.7 nTPM

Single-cell type

  • myonuclei: 103 nCPM
  • erythrocyte progenitors: 81 nCPM
  • megakaryocyte-erythroid progenitors: 74 nCPM
  • megakaryocyte progenitors: 69 nCPM
  • alveolar cells type 1: 61 nCPM
  • basal keratinocytes: 55 nCPM

Immune cell

  • MAIT T-cell: 2.1 nTPM
  • intermediate monocyte: 2 nTPM
  • memory B-cell: 2 nTPM
  • non-classical monocyte: 2 nTPM
  • NK-cell: 1.4 nTPM
  • memory CD4 T-cell: 1.3 nTPM

Brain region

  • cerebellum: 9 nTPM
  • cerebral cortex: 7.6 nTPM
  • white matter: 7.6 nTPM
  • pons: 6.9 nTPM
  • basal ganglia: 6.8 nTPM
  • hippocampal formation: 6.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PUS7.

Disease | AllUniProt

Conditions PUS7 is implicated in, by any mechanism.

  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS) MIM:618342

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 190 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)
0.83
gnomAD pLI
0
gnomAD missense Z
1.43
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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

InteractionsUniProt · HPA

Protein binding partners of PUS7 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 PUS7 as an antibody target. Whether an autoantibody or antibody against PUS7 could matter depends on whether native PUS7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PUS7 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 PUS7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PUS7. 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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