DDX59
entrez
83479
canonical
uniprot
Q5T1V6
canonical
ensembl
ENSG00000118197
resolver
ensp
ENSP00000330460
resolver
ensp
ENSP00000394367
resolver
ensp
ENSP00000556574
resolver
ensp
ENSP00000556577
resolver
ensp
ENSP00000606217
resolver
ensp
ENSP00000606219
resolver
ensp
ENSP00000606221
resolver
ensp
ENSP00000628835
resolver
ensp
ENSP00000628836
resolver
ensp
ENSP00000688686
resolver
ensp
ENSP00000688687
resolver
ensp
ENSP00000688689
resolver
genesymbol
DDX59
resolver
genesymbol_syn
ZNHIT5
resolver
hgnc
HGNC:25360
resolver
uniprot
B7Z5N6
resolver
uniprot
Q6PJL2
resolver
uniprot
Q8IVW3
resolver
uniprot
Q9H0W3
resolver
uniprot_entry
B7Z5N6_HUMAN
resolver
uniprot_entry
DDX59_HUMAN
resolver
uniprot_sec
Q6PJL2
resolver
uniprot_sec
Q8IVW3
resolver
uniprot_sec
Q9H0W3
resolver
amino_acid_sequence
MFVPRSLKIKRNANDDGKSCVAKIIKPDPEDLQLDKSRDVPVDAVATEAATIDRHISESCPFPSPGGQLAEVHSVSPEQGAKDSHPSEEPVKSFSKTQRWAEPGEPICVVCGRYGEYICDKTDEDVCSLECKAKHLLQVKEKEEKSKLSNPQKADSEPESPLNASYVYKEHPFILNLQEDQIENLKQQLGILVQGQEVTRPIIDFEHCSLPEVLNHNLKKSGYEVPTPIQMQMIPVGLLGRDILASADTGSGKTAAFLLPVIMRALFESKTPSALILTPTRELAIQIERQAKELMSGLPRMKTVLLVGGLPLPPQLYRLQQHVKVIIATPGRLLDIIKQSSVELCGVKIVVVDEADTMLKMGFQQQVLDILENIPNDCQTILVSATIPTSIEQLASQLLHNPVRIITGEKNLPCANVRQIILWVEDPAKKKKLFEILNDKKLFKPPVLVFVDCKLGADLLSEAVQKITGLKSISIHSEKSQIERKNILKGLLEGDYEVVVSTGVLGRGLDLISVRLVVNFDMPSSMDEYVHQIGRVGRLGQNGTAITFINNNSKRLFWDIAKRVKPTGSILPPQLLNSPYLHDQKRKEQQKDKQTQNDLVTGANLMDIIRKHDKSNSQK
uniprot
proteins
disease_involvement
DISEASE: Orofaciodigital syndrome 5 (OFD5) [MIM:174300]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. {ECO:0000269|PubMed:23972372}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.13
uniprot
proteins
mass_dalton
68810
uniprot
proteins
protein_family
DDX59 subfamily
uniprot
proteins
protein_family
DEAD box helicase family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23972372
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28561026
uniprot
proteins
sequence_length
619
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23972372}. Nucleus {ECO:0000269|PubMed:23972372}. Note=Exhibits granular localization in the nucleus, as well as in the cytoplasm.
uniprot
proteins