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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5092
Gene name	Pterin-4 alpha-carbinolamine dehydratase 1
Gene symbol	PCBD1
Synonyms (NCBI Gene)	DCOHPCBDPCDPHS
Chromosome	10
Chromosome location	10q22.1
Summary	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

201

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

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

107

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	Pathogenic; Likely pathogenic	rs2492833598, rs2492833589, rs2492830006, rs2492832243, rs769110552, rs1218193751, rs104894172, rs104894177, rs121913015, rs1589483932, rs397518414, rs397518416	RCV002807008 RCV003131126 RCV005047580 RCV003517906 RCV003632828 RCV003860628 RCV000018286 RCV000018287 RCV000018290 RCV000988378 RCV003517134 RCV000143792

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs727505360	-
Gastric cancer	Benign	rs774597483	RCV005871261
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Uncertain significance; Benign; Likely benign	rs564598374, rs886047113, rs827237, rs545046003, rs886047115, rs2630336	RCV006255637 RCV006255635 RCV006255636 RCV006255638 RCV006255639 RCV006255640
PCBD1-related disorder	Likely benign	rs115117837	RCV003907903
Uterine corpus endometrial carcinoma	Benign	rs774597483	RCV005871262

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	1331985
Colonic Neoplasms	Stimulate	10514393
Colorectal Neoplasms	Associate	10514393
Diabetes Mellitus	Associate	24848070, 36208030
Diabetes Mellitus Type 2	Associate	36208030
Diabetic Nephropathies	Associate	39838413
Hyperphenylalaninemia with primapterinuria	Associate	9585615
Hypothyroidism Congenital Nongoitrous 1	Associate	24848070
Infant Newborn Diseases	Associate	24848070
Metabolic Diseases	Associate	31637888
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	31637888
Phenylketonurias	Associate	24133926, 24705691, 37818795, 9585615
Renal Insufficiency	Associate	24848070

PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1)