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    BPHL biphenyl hydrolase like [ Homo sapiens (human) ]

    Gene ID: 670, updated on 9-Dec-2024

    Summary

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    Official Symbol
    BPHLprovided by HGNC
    Official Full Name
    biphenyl hydrolase likeprovided by HGNC
    Primary source
    HGNC:HGNC:1094
    See related
    Ensembl:ENSG00000137274 MIM:603156; AllianceGenome:HGNC:1094
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCNAA; BPH-RP; VACVASE
    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 have been described.[provided by RefSeq, Jan 2009]
    Expression
    Broad expression in kidney (RPKM 36.5), liver (RPKM 16.0) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BPHL in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3118376..3153578)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2986415..3020798)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3118610..3153812)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:3054769-3055561 Neighboring gene uncharacterized LOC124901242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3073895-3074394 Neighboring gene receptor interacting serine/threonine kinase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3077589-3078563 Neighboring gene RNA, 5S ribosomal pseudogene 201 Neighboring gene uncharacterized LOC107986556 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3118179-3118814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3133721-3134377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23883 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3148774-3148935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16846 Neighboring gene uncharacterized LOC105374889 Neighboring gene tubulin beta 2A class IIa

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human valacyclovir hydrolase/biphenyl hydrolase-like protein is a highly efficient homocysteine thiolactonase. Marsillach J, et al. PLoS One, 2014. PMID 25333274, Free PMC Article
    2. Cloning and sequencing of a complementary DNA encoding a Mr 70,000 human breast epithelial mucin-associated antigen. Larocca D, et al. Cancer Res, 1990 Sep 15. PMID 2393862
    3. Cloning and expression analysis of a novel human serine hydrolase with sequence similarity to prokaryotic enzymes involved in the degradation of aromatic compounds. Puente XS, et al. J Biol Chem, 1995 May 26. PMID 7759552
    4. Structural characterization and chromosomal localization of the gene encoding human biphenyl hydrolase-related protein (BPHL). Puente XS, et al. Genomics, 1998 Aug 1. PMID 9721218
    5. Identification of a human valacyclovirase: biphenyl hydrolase-like protein as valacyclovir hydrolase. Kim I, et al. J Biol Chem, 2003 Jul 11. PMID 12732646

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The catalytic efficiency (kcat/Km) of rBPHL for homocysteine thiolactone hydrolysis was 7.7 x 10(4) M(-1)s(-1), orders of magnitude higher than that of PON1 or Blmh, indicating a more significant physiological role for BPHL in detoxifying HCTL
      Title: Human valacyclovir hydrolase/biphenyl hydrolase-like protein is a highly efficient homocysteine thiolactonase.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. BPHL catalyzes the hydrolytic activation of the antiviral prodrugs valacyclovir and valganciclovir.
      Title: A novel nucleoside prodrug-activating enzyme: substrate specificity of biphenyl hydrolase-like protein.
    4. BPHL is a serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nuceloside analogs such as valacyclovir and valganciclovir.
      Title: Identification of a human valacyclovirase: biphenyl hydrolase-like protein as valacyclovir hydrolase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC41865, MGC125930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-amino-acid esterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-amino-acid esterase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to toxic substance TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    valacyclovir hydrolase
    Names
    biphenyl hydrolase-like (serine hydrolase)
    biphenyl hydrolase-related protein
    breast epithelial mucin-associated antigen
    valacyclovirase

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001302777.1 → NP_001289706.1  valacyclovir hydrolase isoform 2

      See identical proteins and their annotated locations for NP_001289706.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate exon in its 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AJ617684, AL031963, BC037778, BC106901, BM977067
      Consensus CDS
      CCDS78105.1
      Related
      ENSP00000390472.1, ENST00000434640.6
      Conserved Domains (1) summary
      COG0596
      Location:27 → 274
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. NM_004332.4 → NP_004323.2  valacyclovir hydrolase isoform 1 precursor

      See identical proteins and their annotated locations for NP_004323.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ617684, AL031963, BC037778, BC106901, BM977067
      Consensus CDS
      CCDS4483.2
      UniProtKB/Swiss-Prot
      Q00306, Q13855, Q3KP51, Q86WA6
      Related
      ENSP00000369739.5, ENST00000380379.10
      Conserved Domains (2) summary
      COG0596
      Location:44 → 291
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      cl21494
      Location:58 → 259
      Abhydrolase; alpha/beta hydrolases

    RNA

    1. NR_026648.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes alternate exons in its 5' and central regions, and uses an alternate splice site in its central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ617684, AL031963, BC037778, BC106901, BM977067
      Related
      ENST00000430655.6

    2. NR_026649.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and includes an alternate exon in its central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ617684, AL031963, BC037778, BC106901, BM977067

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      3118376..3153578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419266.1 → XP_047275222.1  valacyclovir hydrolase isoform X1

    2. XM_047419267.1 → XP_047275223.1  valacyclovir hydrolase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      2986415..3020798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356264.1 → XP_054212239.1  valacyclovir hydrolase isoform X1

    2. XM_054356265.1 → XP_054212240.1  valacyclovir hydrolase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WA6.1 GenPept UniProtKB/Swiss-Prot:Q86WA6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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