ASCL5
entrez
647219
canonical
uniprot
Q7RTU5
canonical
ensembl
ENSG00000232237
resolver
ensp
ENSP00000472681
resolver
enst
ENST00000449188
resolver
genesymbol
ASCL5
resolver
genesymbol_syn
BHLHA47
resolver
hgnc
HGNC:33169
resolver
uniprot
M0R2M9
resolver
uniprot_entry
ASCL5_HUMAN
resolver
uniprot_sec
M0R2M9
resolver
amino_acid_sequence
MNNNFCRALVDRRPLGPPSCMQLGVMPPPRQAPLPPAEPLGNVPFLLYPGPAEPPYYDAYAGVFPYVPFPGAFGVYEYPFEPAFIQKRNERERQRVKCVNEGYARLRGHLPGALAEKRLSKVETLRAAIRYIKYLQELLSSAPDGSTPPASRGLPGTGPCPAPPATPRPDRPGDGEARAPSSLVPESSESSCFSPSPFLESEESWH
uniprot
proteins
disease_involvement
DISEASE: Lobodontia (LBDT) [MIM:187000]: An autosomal dominant, rare dental anomaly marked by supernumerary cusps and a single pyramid-shaped molar root, as well as canines and premolars featuring tritubercular structure or prominent cusp tips. {ECO:0000269|PubMed:41673016}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor. Probably binds E-box motifs 5'-CANNTG-3' in complex with transcription factor TCF3/E12. Negatively modulates transcription of target genes such as CDH1/E-cadherin, perhaps by recruiting the PRC2 repressive complex to regulatory elements. Regulates ameloblast development and tooth germ growth, perhaps acting by positively modulating migration of inner enamel epithelium (IEE) cells. Plays a role in enamel formation. {ECO:0000250|UniProtKB:M0QWB7}.
uniprot
proteins
mass_dalton
22532
uniprot
proteins
pubmed
14516699
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
41673016
uniprot
proteins
sequence_length
206
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:41673016}. Cytoplasm {ECO:0000269|PubMed:41673016}.
uniprot
proteins