DLX5
entrez
1749
canonical
uniprot
P56178
canonical
ensembl
ENSG00000105880
resolver
ensp
ENSP00000498116
resolver
genesymbol
DLX5
resolver
hgnc
HGNC:2918
resolver
uniprot
B7Z4P3
resolver
uniprot
Q53Y73
resolver
uniprot
Q9UPL1
resolver
uniprot_entry
DLX5_HUMAN
resolver
uniprot_entry
Q53Y73_HUMAN
resolver
uniprot_sec
B7Z4P3
resolver
uniprot_sec
Q9UPL1
resolver
amino_acid_sequence
MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY
uniprot
proteins
disease_involvement
DISEASE: Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600]: A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. {ECO:0000269|PubMed:22121204}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding. {ECO:0000269|PubMed:19497851}.
uniprot
proteins
mass_dalton
31540
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Phosphorylation of Ser-34 and Ser-217 by MAPK14 enhances its transcriptional activity. Phosphorylation by CaMK2 increases its protein stability (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
Distal-less homeobox family
uniprot
proteins
pubmed
12145306
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19497851
uniprot
proteins
pubmed
22121204
uniprot
proteins
pubmed
7907794
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins