BPHL (biphenyl hydrolase like)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 670 |
| Gene name | Biphenyl hydrolase like |
| Gene symbol | BPHL |
| Synonyms (NCBI Gene) |
BPH-RPMCNAAVACVASE
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| Chromosome | 6 |
| Chromosome location | 6p25.2 |
| Summary | This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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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.
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Q86WA6 | ||||||||||
| Protein name | Serine hydrolase BPHL (EC 3.1.-.-) (Biphenyl hydrolase-like protein) (Biphenyl hydrolase-related protein) (Bph-rp) (Breast epithelial mucin-associated antigen) (MCNAA) (L-homocysteine-thiolactonase BPHL) (Valacyclovir hydrolase) (VACVase) (Valacyclovirase | ||||||||||
| Protein function | Specific alpha-amino acid ester serine hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol (PubMed:12732646, PubMed:15832508, | ||||||||||
| PDB | 2OCG , 2OCI , 2OCK , 2OCL | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed at high levels in liver and kidney and lower levels in heart, intestine and skeletal muscle. {ECO:0000269|PubMed:7759552}. | ||||||||||
| Sequence |
MVAVLGGRGVLRLRLLLSALKPGIHVPRAGPAAAFGTSVTSAKVAVNGVQLHYQQTGEGD |
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| Sequence length | 291 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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Related Genes
Genes most often co-reported with BPHL across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to BPHL (see Related Genes above), that are NOT already directly curated for BPHL itself -- a lead worth checking, not a confirmed association.
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