PUS7: Pseudouridine Synthase 7
A key enzyme in RNA pseudouridylation, implicated in intellectual disability, developmental disorders, and cancer.
Gene Information Card
| Symbol | PUS7 |
|---|---|
| Full Name | pseudouridine synthase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 54517 ncbi.nlm.nih.gov/gene/54517 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q96PZ0 |
| OMIM ID | 616261 |
| HGNC ID | 26033 |
| Aliases | DKFZp686B24122, FLJ22097, MGC138290, MGC138291, pseudouridylate synthase 7 homolog (S. cerevisiae) |
Description
PUS7 (pseudouridine synthase 7) encodes an enzyme that catalyzes the isomerization of uridine to pseudouridine (Ψ) in RNA molecules, including transfer RNA (tRNA), ribosomal RNA (rRNA), and small nuclear RNA (snRNA). This post-transcriptional modification is critical for RNA stability, structure, and function. PUS7 is highly conserved across eukaryotes and plays essential roles in protein translation, ribosome biogenesis, and spliceosome assembly. Mutations in PUS7 are associated with autosomal recessive intellectual disability and developmental delay, while dysregulated expression is linked to various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS) | Loss-of-function mutations in PUS7 impair pseudouridylation of tRNA and other RNAs, leading to altered translation, ribosome dysfunction, and neurodevelopmental defects. | OMIM #616261; ClinVar; PMID: 28965846 |
| Autosomal recessive intellectual disability | Homozygous or compound heterozygous missense/nonsense mutations disrupt PUS7 catalytic activity, reducing pseudouridine levels in RNA and affecting neuronal gene expression. | OMIM #616261; PMID: 28965846 |
| Colorectal cancer | PUS7 overexpression is associated with poor prognosis; promotes tumor growth by enhancing pseudouridylation of specific tRNAs, stabilizing oncogenic transcripts. | COSMIC; PMID: 31586073 |
| Acute myeloid leukemia (AML) | PUS7 is recurrently mutated in AML; loss-of-function mutations may contribute to leukemogenesis through dysregulated RNA modification. | COSMIC; PMID: 27767025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Lymph node | 8.9 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney cells; high expression |
| K562 | 22.1 | Leukemia cell line; high expression |
| HepG2 | 9.8 | Hepatocellular carcinoma; moderate expression |
| HeLa | 14.7 | Cervical cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1195C>T (p.Arg399*) | Nonsense | Rare | Loss of function; truncation of catalytic domain; associated with IDDABS |
| c.1430G>A (p.Arg477Gln) | Missense | Rare | Loss of function; reduced pseudouridine synthase activity; associated with intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein production; associated with IDDABS |
| c.1264C>T (p.Arg422Trp) | Missense | Rare | Likely loss of function; reported in AML |
Mutation functional classification
Loss of Function (LOF)
Most reported pathogenic mutations in PUS7 are loss-of-function (nonsense, frameshift, start loss, or missense with reduced catalytic activity), leading to decreased pseudouridine levels in RNA and neurodevelopmental disorders.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PUS7. Overexpression in some cancers may act as an oncogenic driver, but this is not due to activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for PUS7; the inheritance pattern is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pseudouridine synthesis (Reactome: R-HSA-6782315)
• tRNA modification in the nucleus and cytosol (Reactome: R-HSA-6782315)
• rRNA modification in the nucleus and cytosol (Reactome: R-HSA-6790901)
Protein Summary
PUS7 is a 664-amino acid protein belonging to the pseudouridine synthase family, containing a conserved catalytic domain that uses a cysteine residue to isomerize uridine to pseudouridine. The protein localizes to the nucleolus, nucleus, and cytosol, reflecting its role in modifying multiple RNA classes. PUS7 is essential for proper ribosome assembly, tRNA stability, and spliceosome function. Structural studies show that PUS7 recognizes specific RNA substrates through its RNA-binding domain. Loss of PUS7 activity leads to global reduction of pseudouridine in tRNA and rRNA, impairing translation fidelity and cellular stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUS7 Knockout HEK293 Cell Line | EDJ-KQ2333 | Human | 54517 | Details Get a Quote |
| PUS7L Knockout HEK293 Cell Line | EDJ-KQ9843 | Human | 83448 | Details Get a Quote |
| PUS7 Knockout A-549 Cell Line | EDJ-KQ21410 | Human | 54517 | Details Get a Quote |
| PUS7 Knockout HCT 116 Cell Line | EDJ-KQ22734 | Human | 54517 | Details Get a Quote |
| PUS7 Knockout HeLa Cell Line | EDJ-KQ22735 | Human | 54517 | Details Get a Quote |
| PUS7L Knockout A-549 Cell Line | EDJ-KQ36692 | Human | 83448 | Details Get a Quote |
| PUS7L Knockout HCT 116 Cell Line | EDJ-KQ36693 | Human | 83448 | Details Get a Quote |
| PUS7L Knockout HeLa Cell Line | EDJ-KQ36694 | Human | 83448 | Details Get a Quote |
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