ASCL1
entrez
429
canonical
uniprot
P50553
canonical
ensembl
ENSG00000139352
resolver
ensp
ENSP00000266744
resolver
enst
ENST00000266744
resolver
genesymbol
ASCL1
resolver
genesymbol_syn
ASH1
resolver
genesymbol_syn
BHLHA46
resolver
genesymbol_syn
HASH1
resolver
hgnc
HGNC:738
resolver
uniprot
A8K3C4
resolver
uniprot
Q9BQ30
resolver
uniprot_entry
ASCL1_HUMAN
resolver
uniprot_sec
A8K3C4
resolver
uniprot_sec
Q9BQ30
resolver
amino_acid_sequence
MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQQQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCKRRLNFSGFGYSLPQQQPAAVARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETLRSAVEYIRALQQLLDEHDAVSAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF
uniprot
proteins
disease_involvement
DISEASE: Note=Genetic variations in ASCL1 may play a role in disorders of the neurocristopathy spectrum manifesting with features of Hirschsprung disease, congenital central hypoventilation syndrome, dysautonomia, in addition to neurodevelopmental issues. {ECO:0000269|PubMed:38287449}.
uniprot
proteins
function
FUNCTION: Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Involved in the regulation of neuroendocrine cell development in the glandular stomach (By similarity). {ECO:0000250|UniProtKB:Q02067}.
uniprot
proteins
mass_dalton
25454
uniprot
proteins
pubmed
10903890
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
38287449
uniprot
proteins
pubmed
8390674
uniprot
proteins
sequence_length
236
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q02067}.
uniprot
proteins