DLX3
entrez
1747
canonical
uniprot
O60479
canonical
ensembl
ENSG00000064195
resolver
ensp
ENSP00000389870
resolver
enst
ENST00000434704
resolver
genesymbol
DLX3
resolver
hgnc
HGNC:2916
resolver
uniprot
B3KQL6
resolver
uniprot_entry
DLX3_HUMAN
resolver
uniprot_sec
B3KQL6
resolver
amino_acid_sequence
MSGSFDRKLSSILTDISSSLSCHAGSKDSPTLPESSVTDLGYYSAPQHDYYSGQPYGQTVNPYTYHHQFNLNGLAGTGAYSPKSEYTYGASYRQYGAYREQPLPAQDPVSVKEEPEAEVRMVNGKPKKVRKPRTIYSSYQLAALQRRFQKAQYLALPERAELAAQLGLTQTQVKIWFQNRRSKFKKLYKNGEVPLEHSPNNSDSMACNSPPSPALWDTSSHSTPAPARSQLPPPLPYSASPSYLDDPTNSWYHAQNLSGPHLQQQPPQPATLHHASPGPPPNPGAVY
uniprot
proteins
disease_involvement
DISEASE: Trichodentoosseous syndrome (TDO) [MIM:190320]: An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. {ECO:0000269|PubMed:9467018}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Amelogenesis imperfecta 4 (AI4) [MIM:104510]: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. {ECO:0000269|PubMed:15666299}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity). {ECO:0000250|UniProtKB:Q64205}.
uniprot
proteins
mass_dalton
31738
uniprot
proteins
protein_family
Distal-less homeobox family
uniprot
proteins
pubmed
11792834
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15666299
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
26550823
uniprot
proteins
pubmed
9467018
uniprot
proteins
sequence_length
287
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}. Cytoplasm {ECO:0000250|UniProtKB:Q64205}.
uniprot
proteins