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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5092
Gene name Gene Name - the full gene name approved by the HGNC.	Pterin-4 alpha-carbinolamine dehydratase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PCBD1
Synonyms (NCBI Gene) Gene synonyms aliases	DCOH, PCBD, PCD, PHS
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894172	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs104894177	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs115117837	C>G,T	Pathogenic, likely-benign	Intron variant, missense variant, coding sequence variant
rs121913014	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs121913015	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs727505360	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs770334825	A>G	Pathogenic	Terminator codon variant, stop lost, intron variant
rs1589483932	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant

Show/Hide all(201)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043343	hsa-miR-331-3p	CLASH	23622248
MIRT1216231	hsa-miR-10a	CLIP-seq
MIRT1216232	hsa-miR-10b	CLIP-seq
MIRT1216233	hsa-miR-1182	CLIP-seq
MIRT1216234	hsa-miR-1207-5p	CLIP-seq
MIRT1216235	hsa-miR-2909	CLIP-seq
MIRT1216236	hsa-miR-3125	CLIP-seq
MIRT1216237	hsa-miR-3127-3p	CLIP-seq
MIRT1216238	hsa-miR-3144-5p	CLIP-seq
MIRT1216239	hsa-miR-3191	CLIP-seq
MIRT1216240	hsa-miR-3202	CLIP-seq
MIRT1216241	hsa-miR-3617	CLIP-seq
MIRT1216242	hsa-miR-3620	CLIP-seq
MIRT1216243	hsa-miR-3679-3p	CLIP-seq
MIRT1216244	hsa-miR-3916	CLIP-seq
MIRT1216245	hsa-miR-4263	CLIP-seq
MIRT1216246	hsa-miR-4436b-3p	CLIP-seq
MIRT1216247	hsa-miR-4476	CLIP-seq
MIRT1216248	hsa-miR-4652-5p	CLIP-seq
MIRT1216249	hsa-miR-4694-5p	CLIP-seq
MIRT1216250	hsa-miR-4704-3p	CLIP-seq
MIRT1216251	hsa-miR-4763-3p	CLIP-seq
MIRT1216252	hsa-miR-491-5p	CLIP-seq
MIRT1216253	hsa-miR-5096	CLIP-seq
MIRT1216254	hsa-miR-541	CLIP-seq
MIRT1216255	hsa-miR-576-5p	CLIP-seq
MIRT1216256	hsa-miR-583	CLIP-seq
MIRT1216257	hsa-miR-641	CLIP-seq
MIRT1216258	hsa-miR-654-5p	CLIP-seq
MIRT2062457	hsa-miR-1343	CLIP-seq
MIRT2062458	hsa-miR-1470	CLIP-seq
MIRT2062459	hsa-miR-188-3p	CLIP-seq
MIRT2062460	hsa-miR-3120-3p	CLIP-seq
MIRT1216237	hsa-miR-3127-3p	CLIP-seq
MIRT1216238	hsa-miR-3144-5p	CLIP-seq
MIRT1216239	hsa-miR-3191	CLIP-seq
MIRT2062461	hsa-miR-3672	CLIP-seq
MIRT1216243	hsa-miR-3679-3p	CLIP-seq
MIRT2062462	hsa-miR-3690	CLIP-seq
MIRT2062463	hsa-miR-378	CLIP-seq
MIRT2062464	hsa-miR-378b	CLIP-seq
MIRT2062465	hsa-miR-378c	CLIP-seq
MIRT2062466	hsa-miR-378d	CLIP-seq
MIRT2062467	hsa-miR-378e	CLIP-seq
MIRT2062468	hsa-miR-378f	CLIP-seq
MIRT2062469	hsa-miR-378h	CLIP-seq
MIRT2062470	hsa-miR-378i	CLIP-seq
MIRT2062471	hsa-miR-422a	CLIP-seq
MIRT2062472	hsa-miR-4268	CLIP-seq
MIRT2062473	hsa-miR-4292	CLIP-seq
MIRT2062474	hsa-miR-4308	CLIP-seq
MIRT2062475	hsa-miR-4469	CLIP-seq
MIRT2062476	hsa-miR-4528	CLIP-seq
MIRT2062477	hsa-miR-4646-5p	CLIP-seq
MIRT1216248	hsa-miR-4652-5p	CLIP-seq
MIRT2062478	hsa-miR-4667-3p	CLIP-seq
MIRT2062479	hsa-miR-4684-3p	CLIP-seq
MIRT2062480	hsa-miR-4687-5p	CLIP-seq
MIRT2062481	hsa-miR-4690-3p	CLIP-seq
MIRT1216249	hsa-miR-4694-5p	CLIP-seq
MIRT1216250	hsa-miR-4704-3p	CLIP-seq
MIRT2062482	hsa-miR-4731-5p	CLIP-seq
MIRT2062483	hsa-miR-4747-5p	CLIP-seq
MIRT2062484	hsa-miR-4799-5p	CLIP-seq
MIRT1216252	hsa-miR-491-5p	CLIP-seq
MIRT2062485	hsa-miR-512-5p	CLIP-seq
MIRT2062486	hsa-miR-518a-5p	CLIP-seq
MIRT2062487	hsa-miR-527	CLIP-seq
MIRT1216254	hsa-miR-541	CLIP-seq
MIRT2062488	hsa-miR-548ac	CLIP-seq
MIRT2062489	hsa-miR-548ae	CLIP-seq
MIRT2062490	hsa-miR-548aj	CLIP-seq
MIRT2062491	hsa-miR-548am	CLIP-seq
MIRT2062492	hsa-miR-548d-3p	CLIP-seq
MIRT2062493	hsa-miR-548x	CLIP-seq
MIRT2062494	hsa-miR-548z	CLIP-seq
MIRT1216258	hsa-miR-654-5p	CLIP-seq
MIRT2062495	hsa-miR-95	CLIP-seq
MIRT1216231	hsa-miR-10a	CLIP-seq
MIRT1216232	hsa-miR-10b	CLIP-seq
MIRT2062457	hsa-miR-1343	CLIP-seq
MIRT2062458	hsa-miR-1470	CLIP-seq
MIRT2062459	hsa-miR-188-3p	CLIP-seq
MIRT2290882	hsa-miR-193a-5p	CLIP-seq
MIRT2062460	hsa-miR-3120-3p	CLIP-seq
MIRT1216237	hsa-miR-3127-3p	CLIP-seq
MIRT2290883	hsa-miR-3153	CLIP-seq
MIRT1216242	hsa-miR-3620	CLIP-seq
MIRT2290884	hsa-miR-3646	CLIP-seq
MIRT1216243	hsa-miR-3679-3p	CLIP-seq
MIRT2290885	hsa-miR-3689a-3p	CLIP-seq
MIRT2290886	hsa-miR-3689c	CLIP-seq
MIRT2062462	hsa-miR-3690	CLIP-seq
MIRT2062463	hsa-miR-378	CLIP-seq
MIRT2062464	hsa-miR-378b	CLIP-seq
MIRT2062465	hsa-miR-378c	CLIP-seq
MIRT2062466	hsa-miR-378d	CLIP-seq
MIRT2062467	hsa-miR-378e	CLIP-seq
MIRT2062468	hsa-miR-378f	CLIP-seq
MIRT2062469	hsa-miR-378h	CLIP-seq
MIRT2062470	hsa-miR-378i	CLIP-seq
MIRT2062471	hsa-miR-422a	CLIP-seq
MIRT2062472	hsa-miR-4268	CLIP-seq
MIRT2062473	hsa-miR-4292	CLIP-seq
MIRT2062474	hsa-miR-4308	CLIP-seq
MIRT2062475	hsa-miR-4469	CLIP-seq
MIRT2290887	hsa-miR-4505	CLIP-seq
MIRT2062477	hsa-miR-4646-5p	CLIP-seq
MIRT2062478	hsa-miR-4667-3p	CLIP-seq
MIRT2062480	hsa-miR-4687-5p	CLIP-seq
MIRT2062481	hsa-miR-4690-3p	CLIP-seq
MIRT1216250	hsa-miR-4704-3p	CLIP-seq
MIRT2290888	hsa-miR-4728-5p	CLIP-seq
MIRT2062482	hsa-miR-4731-5p	CLIP-seq
MIRT2062483	hsa-miR-4747-5p	CLIP-seq
MIRT1216253	hsa-miR-5096	CLIP-seq
MIRT2062485	hsa-miR-512-5p	CLIP-seq
MIRT2290889	hsa-miR-516a-3p	CLIP-seq
MIRT1216254	hsa-miR-541	CLIP-seq
MIRT2290890	hsa-miR-555	CLIP-seq
MIRT2290891	hsa-miR-635	CLIP-seq
MIRT1216258	hsa-miR-654-5p	CLIP-seq
MIRT2062495	hsa-miR-95	CLIP-seq
MIRT2062477	hsa-miR-4646-5p	CLIP-seq
MIRT1216237	hsa-miR-3127-3p	CLIP-seq
MIRT1216243	hsa-miR-3679-3p	CLIP-seq
MIRT1216250	hsa-miR-4704-3p	CLIP-seq
MIRT2062458	hsa-miR-1470	CLIP-seq
MIRT2062459	hsa-miR-188-3p	CLIP-seq
MIRT2290882	hsa-miR-193a-5p	CLIP-seq
MIRT2062460	hsa-miR-3120-3p	CLIP-seq
MIRT1216236	hsa-miR-3125	CLIP-seq
MIRT1216237	hsa-miR-3127-3p	CLIP-seq
MIRT1216243	hsa-miR-3679-3p	CLIP-seq
MIRT2290885	hsa-miR-3689a-3p	CLIP-seq
MIRT2290886	hsa-miR-3689c	CLIP-seq
MIRT2062462	hsa-miR-3690	CLIP-seq
MIRT2062463	hsa-miR-378	CLIP-seq
MIRT2062464	hsa-miR-378b	CLIP-seq
MIRT2062465	hsa-miR-378c	CLIP-seq
MIRT2062466	hsa-miR-378d	CLIP-seq
MIRT2062467	hsa-miR-378e	CLIP-seq
MIRT2062468	hsa-miR-378f	CLIP-seq
MIRT2062469	hsa-miR-378h	CLIP-seq
MIRT2062470	hsa-miR-378i	CLIP-seq
MIRT1216244	hsa-miR-3916	CLIP-seq
MIRT2588562	hsa-miR-3960	CLIP-seq
MIRT2062471	hsa-miR-422a	CLIP-seq
MIRT2062472	hsa-miR-4268	CLIP-seq
MIRT2062473	hsa-miR-4292	CLIP-seq
MIRT2062474	hsa-miR-4308	CLIP-seq
MIRT2588563	hsa-miR-4467	CLIP-seq
MIRT2062475	hsa-miR-4469	CLIP-seq
MIRT1216247	hsa-miR-4476	CLIP-seq
MIRT2290887	hsa-miR-4505	CLIP-seq
MIRT2062478	hsa-miR-4667-3p	CLIP-seq
MIRT2062480	hsa-miR-4687-5p	CLIP-seq
MIRT2062481	hsa-miR-4690-3p	CLIP-seq
MIRT1216250	hsa-miR-4704-3p	CLIP-seq
MIRT2290888	hsa-miR-4728-5p	CLIP-seq
MIRT2062485	hsa-miR-512-5p	CLIP-seq
MIRT1216254	hsa-miR-541	CLIP-seq
MIRT2290890	hsa-miR-555	CLIP-seq
MIRT1216256	hsa-miR-583	CLIP-seq
MIRT2290891	hsa-miR-635	CLIP-seq
MIRT1216258	hsa-miR-654-5p	CLIP-seq
MIRT2062495	hsa-miR-95	CLIP-seq
MIRT2062458	hsa-miR-1470	CLIP-seq
MIRT2062459	hsa-miR-188-3p	CLIP-seq
MIRT2290882	hsa-miR-193a-5p	CLIP-seq
MIRT2062460	hsa-miR-3120-3p	CLIP-seq
MIRT2290885	hsa-miR-3689a-3p	CLIP-seq
MIRT2290886	hsa-miR-3689c	CLIP-seq
MIRT2062462	hsa-miR-3690	CLIP-seq
MIRT2062463	hsa-miR-378	CLIP-seq
MIRT2062464	hsa-miR-378b	CLIP-seq
MIRT2062465	hsa-miR-378c	CLIP-seq
MIRT2062466	hsa-miR-378d	CLIP-seq
MIRT2062467	hsa-miR-378e	CLIP-seq
MIRT2062468	hsa-miR-378f	CLIP-seq
MIRT2062469	hsa-miR-378h	CLIP-seq
MIRT2062470	hsa-miR-378i	CLIP-seq
MIRT2588562	hsa-miR-3960	CLIP-seq
MIRT2062471	hsa-miR-422a	CLIP-seq
MIRT2062472	hsa-miR-4268	CLIP-seq
MIRT2062473	hsa-miR-4292	CLIP-seq
MIRT2062474	hsa-miR-4308	CLIP-seq
MIRT2588563	hsa-miR-4467	CLIP-seq
MIRT2062475	hsa-miR-4469	CLIP-seq
MIRT2290887	hsa-miR-4505	CLIP-seq
MIRT2062478	hsa-miR-4667-3p	CLIP-seq
MIRT2062480	hsa-miR-4687-5p	CLIP-seq
MIRT2062481	hsa-miR-4690-3p	CLIP-seq
MIRT1216250	hsa-miR-4704-3p	CLIP-seq
MIRT2290888	hsa-miR-4728-5p	CLIP-seq
MIRT2062485	hsa-miR-512-5p	CLIP-seq
MIRT1216254	hsa-miR-541	CLIP-seq
MIRT2290890	hsa-miR-555	CLIP-seq
MIRT2290891	hsa-miR-635	CLIP-seq
MIRT1216258	hsa-miR-654-5p	CLIP-seq
MIRT2062495	hsa-miR-95	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	TAS	1763325
GO:0004505	Function	Phenylalanine 4-monooxygenase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 20195357, 20211142, 21988832, 25416956, 26871637, 29892012, 31515488, 32296183, 33961781, 35140242
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IEA
GO:0008124	Function	4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IBA
GO:0008124	Function	4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019293	Process	Tyrosine biosynthetic process, by oxidation of phenylalanine	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 20211142, 21516116, 25416956, 32296183
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
126090	8646	ENSG00000166228

Protein

UniProt ID

P61457

Protein name

Pterin-4-alpha-carbinolamine dehydratase (PHS) (EC 4.2.1.96) (4-alpha-hydroxy-tetrahydropterin dehydratase) (Dimerization cofactor of hepatocyte nuclear factor 1-alpha) (DCoH) (Dimerization cofactor of HNF1) (Phenylalanine hydroxylase-stimulating protein)

Protein function

Involved in tetrahydrobiopterin biosynthesis (By similarity). Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription (By similarity). Regulates the dimerizati

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01329	Pterin_4a	6 → 99	Pterin 4 alpha carbinolamine dehydratase	Domain

Sequence

MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKL
DHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT

Sequence length

104

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways		Phenylalanine metabolism

PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1)