PUDP (pseudouridine 5'-phosphatase)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8226
Gene name Pseudouridine 5'-phosphatase
Gene symbol PUDP
Synonyms (NCBI Gene)
DXF68S1EFAM16AXGS1HDHD1HDHD1A
Chromosome X
Chromosome location Xp22.31
Summary This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding differe
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol TAS
GO:0009117 Process Nucleotide metabolic process IEA
GO:0016787 Function Hydrolase activity IEA
GO:0016791 Function Phosphatase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
306480 16818 ENSG00000130021
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08623
Protein name Pseudouridine-5'-phosphatase (EC 3.1.3.96) (Haloacid dehalogenase-like hydrolase domain-containing protein 1) (Haloacid dehalogenase-like hydrolase domain-containing protein 1A) (Protein GS1) (Pseudouridine-5'-monophosphatase) (5'-PsiMPase)
Protein function Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine.
PDB 3L5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13419 HAD_2 11 → 194 Haloacid dehalogenase-like hydrolase Family
Sequence
Sequence length 228
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Pyrimidine salvage
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (1)
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 Evidence Score
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Intellectual Disability Associate 39334510
★★★★★
★☆☆☆☆
Found in Text Mining only