DCT
entrez
1638
canonical
uniprot
P40126
canonical
ensembl
ENSG00000080166
resolver
ensp
ENSP00000366227
resolver
ensp
ENSP00000392762
resolver
genesymbol
DCT
resolver
genesymbol_syn
TYRP2
resolver
hgnc
HGNC:2709
resolver
uniprot
Q09GT4
resolver
uniprot_entry
TYRP2_HUMAN
resolver
uniprot_sec
Q09GT4
resolver
amino_acid_sequence
MSPLWWGFLLSCLGCKILPGAQGQFPRVCMTVDSLVNKECCPRLGAESANVCGSQQGRGQCTEVRADTRPWSGPYILRNQDDRELWPRKFFHRTCKCTGNFAGYNCGDCKFGWTGPNCERKKPPVIRQNIHSLSPQEREQFLGALDLAKKRVHPDYVITTQHWLGLLGPNGTQPQFANCSVYDFFVWLHYYSVRDTLLGPGRPYRAIDFSHQGPAFVTWHRYHLLCLERDLQRLIGNESFALPYWNFATGRNECDVCTDQLFGAARPDDPTLISRNSRFSSWETVCDSLDDYNHLVTLCNGTYEGLLRRNQMGRNSMKLPTLKDIRDCLSLQKFDNPPFFQNSTFSFRNALEGFDKADGTLDSQVMSLHNLVHSFLNGTNALPHSAANDPIFVVLHSFTDAIFDEWMKRFNPPADAWPQELAPIGHNRMYNMVPFFPPVTNEELFLTSDQLGYSYAIDLPVSVEETPGWPTTLLVVMGTLVALVGLFVLLAFLQYRRLRKGYTPLMETHLSSKRYTEEA
uniprot
proteins
disease_involvement
DISEASE: Albinism, oculocutaneous, 8 (OCA8) [MIM:619165]: A form of oculocutaneous albinism, a disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. OCA8 is an autosomal recessive form characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina. {ECO:0000269|PubMed:33100333}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.3.3.12
uniprot
proteins
function
FUNCTION: Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA). {ECO:0000269|PubMed:33100333, ECO:0000269|PubMed:8306979}.
uniprot
proteins
mass_dalton
59145
uniprot
proteins
pathway_participation
PATHWAY: Pigment biosynthesis; melanin biosynthesis. {ECO:0000269|PubMed:33100333}.
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:P29812}.
uniprot
proteins
protein_family
Tyrosinase family
uniprot
proteins
pubmed
11777994
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
28842328
uniprot
proteins
pubmed
33100333
uniprot
proteins
pubmed
7929451
uniprot
proteins
pubmed
8148378
uniprot
proteins
pubmed
8206391
uniprot
proteins
pubmed
8306979
uniprot
proteins
pubmed
8530077
uniprot
proteins
sequence_length
519
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}; Single-pass type I membrane protein {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000250|UniProtKB:P29812}. Note=Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38. {ECO:0000250|UniProtKB:P29812}.
uniprot
proteins
transmembrane_region
TRANSMEM 473..493; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins