PUSL1 (pseudouridine synthase like 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
126789
Gene name Gene Name - the full gene name approved by the HGNC.
Pseudouridine synthase like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PUSL1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0001522 Process Pseudouridine synthesis IEA
GO:0003723 Function RNA binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 28082677
GO:0008033 Process TRNA processing IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N0Z8
Protein name tRNA pseudouridine synthase-like 1 (EC 5.4.99.-) (tRNA pseudouridylate synthase-like 1) (tRNA-uridine isomerase-like 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01416 PseudoU_synth_1 16 → 123 tRNA pseudouridine synthase Domain
PF01416 PseudoU_synth_1 168 → 285 tRNA pseudouridine synthase Domain
Sequence
Sequence length 303
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Sarcoma Kaposi Associate 40016701