PUSL1 (pseudouridine synthase like 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 126789
Gene name Pseudouridine synthase like 1
Gene symbol PUSL1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.33
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11 Show/Hide all (11)
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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_1 168 → 285 tRNA pseudouridine synthase Domain
PF01416 PseudoU_synth_1 16 → 123 tRNA pseudouridine synthase Domain
Sequence 
MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYLEEAAERLNSVEPVRFT
ISSRTDAGVHALSNAAHLDVQRRSGRPPFPPEVLAEALNTHLRHPAIRVLRAFRVPSDFH
ARHAATSRTYLYRLATGCHRRDELPVFERNLCWTLPADCLDMVAMQEAAQHLLGTHDFSA
FQSAGSPVPSPVRTLRRVSVSPGQASPLVTPEESRKLRFWNLEFESQSFLYRQVRRMTAV
LVAVGLGALAPAQVKTILESQDPLGKHQTRVAPAHGLFLKSVLYGNLGAASCTLQGPQFG
SHG
Sequence length 303
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog 28714469
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Lupus Erythematosus, Systemic Lupus Erythematosus GWASCAT_DG 28714469
★★★★★
★☆☆☆☆
Found in Text Mining only
Sarcoma Kaposi Sarcoma Pubtator 40016701 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for PUSL1.

No additional diseases found yet through genes similar to PUSL1.