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BPHL biphenyl hydrolase like [ Homo sapiens (human) ]

Gene ID: 670, updated on 23-Nov-2021

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
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

See BPHL in Genome Data Viewer
Location:
6p25.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (3118376..3153599)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3118610..3153812)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene serpin family B member 8 pseudogene 1 Neighboring gene receptor interacting serine/threonine kinase 1 Neighboring gene RNA, 5S ribosomal pseudogene 201 Neighboring gene uncharacterized LOC107986556 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

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
 
Process Evidence Code Pubs
involved_in cellular 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)

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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_001302777.1NP_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
    UniProtKB/Swiss-Prot
    Q86W56, Q86WA6
    UniProtKB/TrEMBL
    A0A024QZY0, Q49AI2
    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
    Q86WA6
    UniProtKB/TrEMBL
    Q49AI2
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    3118376..3153599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002956298.1 RNA Sequence

  2. XR_002956297.1 RNA Sequence

  3. XR_002956299.1 RNA Sequence

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