Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	670
Gene name	Biphenyl hydrolase like
Gene symbol	BPHL
Synonyms (NCBI Gene)	BPH-RPMCNAAVACVASE
Chromosome	6
Chromosome location	6p25.2
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

Show/Hide all (86)

miRTarBase ID	miRNA	Experiments
MIRT823741	hsa-miR-106a	CLIP-seq
MIRT823742	hsa-miR-106b	CLIP-seq
MIRT823743	hsa-miR-127-5p	CLIP-seq
MIRT823744	hsa-miR-129-5p	CLIP-seq
MIRT823745	hsa-miR-150	CLIP-seq
MIRT823746	hsa-miR-17	CLIP-seq
MIRT823747	hsa-miR-20a	CLIP-seq
MIRT823748	hsa-miR-20b	CLIP-seq
MIRT823749	hsa-miR-25	CLIP-seq
MIRT823750	hsa-miR-302a	CLIP-seq
MIRT823751	hsa-miR-302b	CLIP-seq
MIRT823752	hsa-miR-302c	CLIP-seq
MIRT823753	hsa-miR-302d	CLIP-seq
MIRT823754	hsa-miR-302e	CLIP-seq
MIRT823755	hsa-miR-3188	CLIP-seq
MIRT823756	hsa-miR-32	CLIP-seq
MIRT823757	hsa-miR-320e	CLIP-seq
MIRT823758	hsa-miR-3545-3p	CLIP-seq
MIRT823759	hsa-miR-3616-5p	CLIP-seq
MIRT823760	hsa-miR-363	CLIP-seq
MIRT823761	hsa-miR-3647-3p	CLIP-seq
MIRT823762	hsa-miR-3647-5p	CLIP-seq
MIRT823763	hsa-miR-3663-5p	CLIP-seq
MIRT823764	hsa-miR-367	CLIP-seq
MIRT823765	hsa-miR-3674	CLIP-seq
MIRT823766	hsa-miR-372	CLIP-seq
MIRT823767	hsa-miR-373	CLIP-seq
MIRT823768	hsa-miR-4282	CLIP-seq
MIRT823769	hsa-miR-4287	CLIP-seq
MIRT823770	hsa-miR-4293	CLIP-seq
MIRT823771	hsa-miR-4294	CLIP-seq
MIRT823772	hsa-miR-4469	CLIP-seq
MIRT823773	hsa-miR-4635	CLIP-seq
MIRT823774	hsa-miR-4663	CLIP-seq
MIRT823775	hsa-miR-4670-3p	CLIP-seq
MIRT823776	hsa-miR-4677-3p	CLIP-seq
MIRT823777	hsa-miR-4680-5p	CLIP-seq
MIRT823778	hsa-miR-4685-3p	CLIP-seq
MIRT823779	hsa-miR-4732-5p	CLIP-seq
MIRT823780	hsa-miR-512-3p	CLIP-seq
MIRT823781	hsa-miR-519d	CLIP-seq
MIRT823782	hsa-miR-520a-3p	CLIP-seq
MIRT823783	hsa-miR-520b	CLIP-seq
MIRT823784	hsa-miR-520c-3p	CLIP-seq
MIRT823785	hsa-miR-520d-3p	CLIP-seq
MIRT823786	hsa-miR-520e	CLIP-seq
MIRT823787	hsa-miR-520g	CLIP-seq
MIRT823788	hsa-miR-520h	CLIP-seq
MIRT823789	hsa-miR-548ae	CLIP-seq
MIRT823790	hsa-miR-548aj	CLIP-seq
MIRT823791	hsa-miR-548am	CLIP-seq
MIRT823792	hsa-miR-548x	CLIP-seq
MIRT823793	hsa-miR-573	CLIP-seq
MIRT823794	hsa-miR-877	CLIP-seq
MIRT823795	hsa-miR-92a	CLIP-seq
MIRT823796	hsa-miR-92b	CLIP-seq
MIRT823797	hsa-miR-93	CLIP-seq
MIRT1943555	hsa-miR-122	CLIP-seq
MIRT1943556	hsa-miR-3198	CLIP-seq
MIRT1943557	hsa-miR-4275	CLIP-seq
MIRT1943558	hsa-miR-4309	CLIP-seq
MIRT1943559	hsa-miR-4423-5p	CLIP-seq
MIRT1943560	hsa-miR-4726-3p	CLIP-seq
MIRT2182210	hsa-miR-1184	CLIP-seq
MIRT1943555	hsa-miR-122	CLIP-seq
MIRT823743	hsa-miR-127-5p	CLIP-seq
MIRT2182211	hsa-miR-1301	CLIP-seq
MIRT2182212	hsa-miR-219-2-3p	CLIP-seq
MIRT2182213	hsa-miR-2964a-3p	CLIP-seq
MIRT1943556	hsa-miR-3198	CLIP-seq
MIRT2182214	hsa-miR-3910	CLIP-seq
MIRT1943557	hsa-miR-4275	CLIP-seq
MIRT823770	hsa-miR-4293	CLIP-seq
MIRT1943558	hsa-miR-4309	CLIP-seq
MIRT2182215	hsa-miR-4418	CLIP-seq
MIRT1943559	hsa-miR-4423-5p	CLIP-seq
MIRT2182216	hsa-miR-4452	CLIP-seq
MIRT2182217	hsa-miR-4514	CLIP-seq
MIRT2182218	hsa-miR-4660	CLIP-seq
MIRT823776	hsa-miR-4677-3p	CLIP-seq
MIRT2182219	hsa-miR-4692	CLIP-seq
MIRT1943560	hsa-miR-4726-3p	CLIP-seq
MIRT2182220	hsa-miR-5047	CLIP-seq
MIRT2182221	hsa-miR-509-3-5p	CLIP-seq
MIRT2182222	hsa-miR-509-5p	CLIP-seq
MIRT2182223	hsa-miR-548an	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006520	Process	Amino acid metabolic process	TAS	7759552
GO:0006805	Process	Xenobiotic metabolic process	IDA	32196348
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0009636	Process	Response to toxic substance	TAS	7759552
GO:0016787	Function	Hydrolase activity	IEA
GO:0017171	Function	Serine hydrolase activity	IBA
GO:0017171	Function	Serine hydrolase activity	IDA	18256025
GO:0046872	Function	Metal ion binding	IEA
GO:0047658	Function	Alpha-amino-acid esterase activity	IDA	18256025, 32196348
GO:0047658	Function	Alpha-amino-acid esterase activity	TAS
GO:0050667	Process	Homocysteine metabolic process	IDA	25333274

MIM	HGNC	e!Ensembl
603156	1094	ENSG00000137274

Q86WA6

Protein name

Serine hydrolase BPHL (EC 3.1.-.-) (Biphenyl hydrolase-like protein) (Biphenyl hydrolase-related protein) (Bph-rp) (Breast epithelial mucin-associated antigen) (MCNAA) (L-homocysteine-thiolactonase BPHL) (Valacyclovir hydrolase) (VACVase) (Valacyclovirase

Protein function

Specific alpha-amino acid ester serine 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 (PubMed:12732646, PubMed:15832508,

PDB

2OCG , 2OCI , 2OCK , 2OCL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00561	Abhydrolase_1	61 → 195	alpha/beta hydrolase fold	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in liver and kidney and lower levels in heart, intestine and skeletal muscle. {ECO:0000269|PubMed:7759552}.

Sequence

MVAVLGGRGVLRLRLLLSALKPGIHVPRAGPAAAFGTSVTSAKVAVNGVQLHYQQTGEGD
HAVLLLPGMLGSGETDFGPQLKNLNKKLFTVVAWDPRGYGHSRPPDRDFPADFFERDAKD
AVDLMKALKFKKVSLLGWSDGGITALIAAAKYPSYIHKMVIWGANAYVTDEDSMIYEGIR
DVSKWSERTRKPLEALYGYDYFARTCEKWVDGIRQFKHLPDGNICRHLLPRVQCPALIVH
GEKDPLVPRFHADFIHKHVKGSRLHLMPEGKHNLHLRFADEFNKLAEDFLQ

Sequence length

291

Interactions

View interactions

	Reactome
			POLB-Dependent Long Patch Base Excision Repair Phase I - Functionalization of compounds

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	22839996, 30121252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12732646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24211580, 31130856, 31142510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30889383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22918473, 30864743		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26624983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22839996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24211580, 31130856, 31142510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30889383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31273064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31176615, 31827085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23736962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30864743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22940495		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30889383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31273064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29336669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BPHL (biphenyl hydrolase like)