JDP1
entrez
56521
canonical
uniprot
Q9UKB3
canonical
ensembl
ENSG00000108176
resolver
ensp
ENSP00000225171
resolver
ensp
ENSP00000343575
resolver
genesymbol
DNAJC12
resolver
genesymbol
JDP1
resolver
genesymbol_syn
DNAJC12
resolver
genesymbol_syn
JDP1
resolver
hgnc
HGNC:28908
resolver
uniprot
Q5JVQ1
resolver
uniprot
Q6IAH1
resolver
uniprot
Q9UKB2
resolver
uniprot_entry
DJC12_HUMAN
resolver
uniprot_entry
Q6IAH1_HUMAN
resolver
uniprot_sec
Q5JVQ1
resolver
uniprot_sec
Q9UKB2
resolver
amino_acid_sequence
MDAILNYRSEDTEDYYTLLGCDELSSVEQILAEFKVRALECHPDKHPENPKAVETFQKLQKAKEILTNEESRARYDHWRRSQMSMPFQQWEALNDSVKTSMHWVVRGKKDLMLEESDKTHTTKMENEECNEQRERKKEELASTAEKTEQKEPKPLEKSVSPQNSDSSGFADVNGWHLRFRWSKDAPSELLRKFRNYEI
uniprot
proteins
disease_involvement
DISEASE: Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) [MIM:617384]: An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. {ECO:0000269|PubMed:28132689, ECO:0000269|PubMed:28794131, ECO:0000269|PubMed:29380259, ECO:0000269|PubMed:30139987, ECO:0000269|PubMed:32333439, ECO:0000269|PubMed:32519510, ECO:0000269|PubMed:38248634, ECO:0000269|PubMed:39584997}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable co-chaperone that participates in the proper folding of biopterin-dependent aromatic amino acid hydroxylases, which include phenylalanine-4-hydroxylase (PAH), tyrosine 3-monooxygenase (TH) and peripheral and neuronal tryptophan hydroxylases (TPH1 and TPH2). {ECO:0000269|PubMed:28132689, ECO:0000269|PubMed:32333439}.
uniprot
proteins
mass_dalton
23415
uniprot
proteins
pubmed
10760603
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24122553
uniprot
proteins
pubmed
28132689
uniprot
proteins
pubmed
28794131
uniprot
proteins
pubmed
29380259
uniprot
proteins
pubmed
30139987
uniprot
proteins
pubmed
30179615
uniprot
proteins
pubmed
32333439
uniprot
proteins
pubmed
32519510
uniprot
proteins
pubmed
38248634
uniprot
proteins
pubmed
39584997
uniprot
proteins
sequence_length
198
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform a]: Cytoplasm {ECO:0000269|PubMed:24122553}.
uniprot
proteins