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    BPHL biphenyl hydrolase like [ Homo sapiens (human) ]

    Gene ID: 670, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BPHL in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3118376..3153578)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2986415..3020798)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001302777.1NP_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, ENST00000434640.5
      Conserved Domains (1) summary
      COG0596
      Location:27274
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    2. NM_004332.4NP_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:44291
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      cl21494
      Location:58259
      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_2023_10

    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_047419266.1XP_047275222.1  valacyclovir hydrolase isoform X1

    2. XM_047419267.1XP_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_054356264.1XP_054212239.1  valacyclovir hydrolase isoform X1

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