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 have been described.[provided by RefSeq, Jan 2009] See more...

Aliases for BPHL Gene

Aliases for BPHL Gene

  • Biphenyl Hydrolase Like 2 3 5
  • Breast Epithelial Mucin-Associated Antigen 2 3 4
  • Valacyclovir Hydrolase 2 3 4
  • Biphenyl Hydrolase-Like (Serine Hydrolase) 2 3
  • Biphenyl Hydrolase-Related Protein 3 4
  • Valacyclovirase 3 4
  • MCNAA 3 4
  • Biphenyl Hydrolase-Like Protein 4
  • EC 3.1.-.- 4
  • VACVASE 3
  • VACVase 4
  • BPH-RP 3
  • Bph-Rp 4

External Ids for BPHL Gene

Previous HGNC Symbols for BPHL Gene

  • MCNAA

Previous GeneCards Identifiers for BPHL Gene

  • GC06P003104
  • GC06P003063
  • GC06P002998

Summaries for BPHL Gene

Entrez Gene Summary for BPHL Gene

  • 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 have been described.[provided by RefSeq, Jan 2009]

GeneCards Summary for BPHL Gene

BPHL (Biphenyl Hydrolase Like) is a Protein Coding gene. Diseases associated with BPHL include Zika Fever and Cardiomyopathy, Dilated, 1M. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is EPHX3.

UniProtKB/Swiss-Prot Summary for BPHL Gene

  • Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester 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.

Additional gene information for BPHL Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BPHL Gene

Genomics for BPHL Gene

GeneHancer (GH) Regulatory Elements for BPHL Gene

Promoters and enhancers for BPHL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BPHL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BPHL

Top Transcription factor binding sites by QIAGEN in the BPHL gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • Evi-1
  • FOXD1
  • Olf-1
  • POU2F1a
  • RFX1
  • RORalpha1
  • TBP

Genomic Locations for BPHL Gene

Genomic Locations for BPHL Gene
chr6:3,118,374-3,153,578
(GRCh38/hg38)
Size:
35,205 bases
Orientation:
Plus strand
chr6:3,118,608-3,153,812
(GRCh37/hg19)
Size:
35,205 bases
Orientation:
Plus strand

Genomic View for BPHL Gene

Genes around BPHL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPHL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPHL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPHL Gene

Proteins for BPHL Gene

  • Protein details for BPHL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WA6-BPHL_HUMAN
    Recommended name:
    Valacyclovir hydrolase
    Protein Accession:
    Q86WA6
    Secondary Accessions:
    • Q00306
    • Q13855
    • Q3KP51

    Protein attributes for BPHL Gene

    Size:
    291 amino acids
    Molecular mass:
    32543 Da
    Quaternary structure:
    • Monomer. May also form homodimers.

    Three dimensional structures from OCA and Proteopedia for BPHL Gene

    Alternative splice isoforms for BPHL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPHL Gene

Post-translational modifications for BPHL Gene

  • Ubiquitination at Lys87 and Lys191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BPHL Gene

Domains & Families for BPHL Gene

Gene Families for BPHL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BPHL Gene

Blocks:
  • Alpha/beta hydrolase fold signature
  • Alpha/beta hydrolase fold
  • Lipase, active site
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BPHL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58913, highly similar to Valacyclovir hydrolase (EC 3.1.-.-) (B4DML3_HUMAN)
  • Breast epithelial mucin-associated antigen (BPHL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WA6

UniProtKB/Swiss-Prot:

BPHL_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with BPHL: view

Function for BPHL Gene

Molecular function for BPHL Gene

UniProtKB/Swiss-Prot Function:
Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester 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.
GENATLAS Biochemistry:
biphenyl hydrolase related protein,highly expressed in liver and kidney,involved in the degradation of polychlorinated biphenyls

Enzyme Numbers (IUBMB) for BPHL Gene

Phenotypes From GWAS Catalog for BPHL Gene

Gene Ontology (GO) - Molecular Function for BPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0047658 alpha-amino-acid esterase activity TAS --
genes like me logo Genes that share ontologies with BPHL: view
genes like me logo Genes that share phenotypes with BPHL: view

Animal Models for BPHL Gene

MGI Knock Outs for BPHL:
  • Bphl Bphl<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for BPHL

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPHL

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BPHL Gene

Localization for BPHL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPHL gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with BPHL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BPHL Gene

Pathways & Interactions for BPHL Gene

genes like me logo Genes that share pathways with BPHL: view

Pathways by source for BPHL Gene

Gene Ontology (GO) - Biological Process for BPHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 7759552
GO:0006805 xenobiotic metabolic process TAS --
GO:0009636 response to toxic substance TAS 7759552
genes like me logo Genes that share ontologies with BPHL: view

No data available for SIGNOR curated interactions for BPHL Gene

Drugs & Compounds for BPHL Gene

(5) Drugs for BPHL Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-tyrosinamide Experimental Pharma Target 0

(1) Additional Compounds for BPHL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BPHL: view

Transcripts for BPHL Gene

mRNA/cDNA for BPHL Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPHL

Alternative Splicing Database (ASD) splice patterns (SP) for BPHL Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5:
SP6: -

Relevant External Links for BPHL Gene

GeneLoc Exon Structure for
BPHL

Expression for BPHL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BPHL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BPHL Gene

This gene is overexpressed in Liver (x5.5) and Kidney - Cortex (x4.8).

Protein differential expression in normal tissues from HIPED for BPHL Gene

This gene is overexpressed in Gallbladder (12.7), Liver, secretome (12.0), Liver (10.5), and Kidney (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BPHL Gene



Protein tissue co-expression partners for BPHL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BPHL

SOURCE GeneReport for Unigene cluster for BPHL Gene:

Hs.10136

mRNA Expression by UniProt/SwissProt for BPHL Gene:

Q86WA6-BPHL_HUMAN
Tissue specificity: Expressed at high levels in liver and kidney and lower levels in heart, intestine and skeletal muscle.

Evidence on tissue expression from TISSUES for BPHL Gene

  • Kidney(2.2)
genes like me logo Genes that share expression patterns with BPHL: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BPHL Gene

Orthologs for BPHL Gene

This gene was present in the common ancestor of animals.

Orthologs for BPHL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BPHL 31 30
  • 98.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BPHL 31 30
  • 85.45 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bphl 30
  • 84.06 (n)
oppossum
(Monodelphis domestica)
Mammalia BPHL 31
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bphl 17 31 30
  • 82.73 (n)
cow
(Bos Taurus)
Mammalia BPHL 31 30
  • 81.9 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPHL 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves BPHL 31 30
  • 73.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BPHL 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bphl 30
  • 65.89 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC402804 30
  • 61.85 (n)
BPHL 31
  • 55 (a)
OneToOne
Dr.12500 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5119 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003440 30
  • 52.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5377 31 32 30
  • 51.46 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K01A2.5 31 30
  • 42.14 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for BPHL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BPHL Gene

ENSEMBL:
Gene Tree for BPHL (if available)
TreeFam:
Gene Tree for BPHL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPHL: view image

Paralogs for BPHL Gene

genes like me logo Genes that share paralogs with BPHL: view

Variants for BPHL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BPHL Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709823 Benign: not provided 3,129,046(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for BPHL Gene

Structural Variations from Database of Genomic Variants (DGV) for BPHL Gene

Variant ID Type Subtype PubMed ID
dgv10273n54 CNV gain 21841781
dgv10274n54 CNV gain 21841781
esv1223146 CNV deletion 17803354
esv23049 CNV loss 19812545
esv2731486 CNV deletion 23290073
esv2731487 CNV deletion 23290073
esv2741096 CNV deletion 23290073
esv990601 CNV loss 20482838
nsv462614 CNV gain 19166990
nsv513294 CNV loss 21212237
nsv600835 CNV loss 21841781
nsv600836 CNV gain+loss 21841781
nsv600839 CNV gain 21841781
nsv600846 CNV gain 21841781
nsv821003 CNV duplication 20802225
nsv950763 CNV deletion 24416366

Variation tolerance for BPHL Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.88; 74.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPHL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPHL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPHL Gene

Disorders for BPHL Gene

MalaCards: The human disease database

(2) MalaCards diseases for BPHL Gene - From: DISEASES

Disorder Aliases PubMed IDs
zika fever
  • zika virus disease
cardiomyopathy, dilated, 1m
  • cmd1m
- elite association - COSMIC cancer census association via MalaCards
Search BPHL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BPHL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BPHL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BPHL Gene

Publications for BPHL Gene

  1. A novel nucleoside prodrug-activating enzyme: substrate specificity of biphenyl hydrolase-like protein. (PMID: 15832508) Kim I … Amidon GL (Molecular pharmaceutics 2004) 2 3 4 23 54
  2. Structural characterization and chromosomal localization of the gene encoding human biphenyl hydrolase-related protein (BPHL). (PMID: 9721218) Puente XS … López-otín C (Genomics 1998) 2 3 4 23 54
  3. Cloning and expression analysis of a novel human serine hydrolase with sequence similarity to prokaryotic enzymes involved in the degradation of aromatic compounds. (PMID: 7759552) Puente XS … López-Otín C (The Journal of biological chemistry 1995) 2 3 4 23 54
  4. Molecular basis of prodrug activation by human valacyclovirase, an alpha-amino acid ester hydrolase. (PMID: 18256025) Lai L … Amidon GL (The Journal of biological chemistry 2008) 3 4 23 54
  5. Identification of a human valacyclovirase: biphenyl hydrolase-like protein as valacyclovir hydrolase. (PMID: 12732646) Kim I … Amidon GL (The Journal of biological chemistry 2003) 3 4 23 54

Products for BPHL Gene

Sources for BPHL Gene