PCBD1
entrez
5092
canonical
uniprot
P61457
canonical
ensembl
ENSG00000166228
resolver
ensp
ENSP00000299299
resolver
enst
ENST00000299299
resolver
genesymbol
PCBD1
resolver
genesymbol_syn
DCOH
resolver
genesymbol_syn
PCBD
resolver
hgnc
HGNC:8646
resolver
uniprot
P70519
resolver
uniprot
P80095
resolver
uniprot
Q9D930
resolver
uniprot_entry
PHS_HUMAN
resolver
uniprot_sec
P70519
resolver
uniprot_sec
P80095
resolver
uniprot_sec
Q9D930
resolver
amino_acid_sequence
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT
uniprot
proteins
disease_involvement
DISEASE: Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]: An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. {ECO:0000269|PubMed:24204001, ECO:0000269|PubMed:8352282, ECO:0000269|PubMed:8618906, ECO:0000269|PubMed:9585615, ECO:0000269|PubMed:9760199}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.96
uniprot
proteins
function
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 dimerization of homeodomain protein HNF1A and enhances its transcriptional activity (By similarity). Also acts as a coactivator for HNF1B-dependent transcription (PubMed:24204001). {ECO:0000250|UniProtKB:P61459, ECO:0000269|PubMed:24204001}.
uniprot
proteins
mass_dalton
12000
uniprot
proteins
protein_family
Pterin-4-alpha-carbinolamine dehydratase family
uniprot
proteins
pubmed
10098606
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1763325
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24204001
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7763270
uniprot
proteins
pubmed
8352282
uniprot
proteins
pubmed
8444860
uniprot
proteins
pubmed
8618906
uniprot
proteins
pubmed
9585615
uniprot
proteins
pubmed
9760199
uniprot
proteins
sequence_length
104
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24204001}. Nucleus {ECO:0000269|PubMed:24204001}. Note=Recruited to the nucleus through the interaction with HNF1B. {ECO:0000269|PubMed:24204001}.
uniprot
proteins