PUS7

PUS7 has ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues.

Full Name

Pseudouridylate synthase 7 (putative)

Function

Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141, PubMed:30778726, PubMed:31477916, PubMed:35051350, PubMed:34718722).
Acts as a regulator of protein synthesis in embryonic stem cells by mediating pseudouridylation of RNA fragments derived from tRNAs (tRFs): pseudouridylated tRFs inhibit translation by targeting the translation initiation complex (PubMed:29628141).
Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:28073919, PubMed:31477916, PubMed:35051350).
Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350).
Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350).
In addition to mRNAs and tRNAs, binds other types of RNAs, such as snRNAs, Y RNAs and vault RNAs, suggesting that it can catalyze pseudouridylation of many RNA types (PubMed:29628141).

Biological Process

mRNA processingIEA:UniProtKB-KW
mRNA pseudouridine synthesisManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of translationManual Assertion Based On ExperimentIDA:UniProtKB
Pseudouridine synthesisManual Assertion Based On ExperimentIBA:GO_Central
Regulation of hematopoietic stem cell differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of mesoderm developmentManual Assertion Based On ExperimentIMP:UniProtKB
RNA splicingIEA:UniProtKB-KW
tRNA pseudouridine synthesisManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS):
An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss.