SELENOO (selenoprotein O)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 83642
Gene name Selenoprotein O
Gene symbol SELENOO
Synonyms (NCBI Gene)
SELO
Chromosome 22
Chromosome location 22q13.33
Summary This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005524 Function ATP binding IEA
GO:0005694 Component Chromosome IDA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607917 30395 ENSG00000073169
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BVL4
Protein name Protein adenylyltransferase SelO, mitochondrial (EC 2.7.7.-) (EC 2.7.7.108) (Selenoprotein O) (SelO)
Protein function Catalyzes the transfer of adenosine 5'-monophosphate (AMP) to Ser, Thr and Tyr residues of target proteins (AMPylation) (PubMed:30270044). May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein (PubMed:2475
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02696 UPF0061 76 → 624 Uncharacterized ACR, YdiU/UPF0061 family Family
Sequence
Sequence length 669
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein 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 (2)
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
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations