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BPHL biphenyl hydrolase like [ Homo sapiens (human) ]

Gene ID: 670, updated on 2-Nov-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
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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 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)

Genotypes

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

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