NEUROG1
entrez
4762
canonical
uniprot
Q92886
canonical
ensembl
ENSG00000181965
resolver
ensp
ENSP00000317580
resolver
enst
ENST00000314744
resolver
genesymbol
NEUROG1
resolver
genesymbol_syn
BHLHA6
resolver
genesymbol_syn
NEUROD3
resolver
genesymbol_syn
NGN
resolver
genesymbol_syn
NGN1
resolver
hgnc
HGNC:7764
resolver
uniprot
F1T0H3
resolver
uniprot
Q5U0Q9
resolver
uniprot
Q96HE1
resolver
uniprot_entry
F1T0H3_HUMAN
resolver
uniprot_entry
NGN1_HUMAN
resolver
uniprot_sec
Q5U0Q9
resolver
uniprot_sec
Q96HE1
resolver
amino_acid_sequence
MPARLETCISDLDCASSSGSDLSGFLTDEEDCARLQQAASASGPPAPARRGAPNISRASEVPGAQDDEQERRRRRGRTRVRSEALLHSLRRSRRVKANDRERNRMHNLNAALDALRSVLPSFPDDTKLTKIETLRFAYNYIWALAETLRLADQGLPGGGARERLLPPQCVPCLPGPPSPASDAESWGSGAAAASPLSDPSSPAASEDFTYRPGDPVFSFPSLPKDLLHTTPCFIPYH
uniprot
proteins
disease_involvement
DISEASE: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (CCDDRD) [MIM:620469]: An autosomal recessive form of congenital cranial dysinnervation disorder. This term defines a heterogeneous group of neurodevelopmental disorders caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDDRD is characterized by developmental delay, corneal opacity, absent corneal reflex, expressionless face with asymmetry, sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral agenesis or severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Additional features include hypotonia, impaired intellectual development, and behavioral abnormalities. {ECO:0000269|PubMed:26077850, ECO:0000269|PubMed:33439489}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity). {ECO:0000250|UniProtKB:P70660}.
uniprot
proteins
mass_dalton
25718
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26077850
uniprot
proteins
pubmed
33439489
uniprot
proteins
pubmed
8816493
uniprot
proteins
sequence_length
237
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins