Gene Gene information from NCBI Gene database.
Entrez ID 100996939
Gene name PIGY upstream open reading frame
Gene symbol PYURF
Synonyms (NCBI Gene)
NDUFAFQPREY
Chromosome 4
Chromosome location 4q22.1
Summary The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the ups
miRNA miRNA information provided by mirtarbase database.
20
miRTarBase ID miRNA Experiments Reference
MIRT555063 hsa-miR-31-5p PAR-CLIP 21572407
MIRT555062 hsa-miR-548e-5p PAR-CLIP 21572407
MIRT555061 hsa-miR-6757-3p PAR-CLIP 21572407
MIRT555060 hsa-miR-2278 PAR-CLIP 21572407
MIRT555058 hsa-miR-4690-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 35614220
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 35614220
GO:0005739 Component Mitochondrion IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 16162815
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619956 44317 ENSG00000145337
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96I23
Protein name Protein preY, mitochondrial (PIGY upstream reading frame protein)
Protein function In mitochondria, S-adenosylmethionine-dependent methyltransferase chaperone that supports both coenzyme Q biosynthesis, by stabilizing its components, such as COQ5, and NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) assembly, by stab
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03966 Trm112p 51 90 Trm112p-like protein Domain
Sequence
MLSGARCRLASALRGTRAPPSAVARRCLHASGSRPLADRGKKTEEPPRDFDPALLEFLVC
PLSKKPLRYEASTNELINEELGIAYPIIDG
IPNMIPQAARMTRQSKKQEEVEQR
Sequence length 114
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial disease Pathogenic rs1431826489 RCV001537634
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Mitochondrial Diseases Associate 35614220