NEUROD1
entrez
4760
canonical
uniprot
Q13562
canonical
ensembl
ENSG00000162992
resolver
ensp
ENSP00000295108
resolver
ensp
ENSP00000506907
resolver
ensp
ENSP00000507492
resolver
enst
ENST00000295108
resolver
enst
ENST00000683430
resolver
enst
ENST00000684079
resolver
genesymbol
NEUROD1
resolver
genesymbol_syn
BHLHA3
resolver
genesymbol_syn
NEUROD
resolver
hgnc
HGNC:7762
resolver
uniprot
A0A0S2Z493
resolver
uniprot
B2R9I8
resolver
uniprot
F1T0E1
resolver
uniprot
O00343
resolver
uniprot
Q13340
resolver
uniprot
Q5U095
resolver
uniprot
Q96TH0
resolver
uniprot
Q99455
resolver
uniprot
Q9UEC8
resolver
uniprot_entry
A0A0S2Z493_HUMAN
resolver
uniprot_entry
NDF1_HUMAN
resolver
uniprot_sec
B2R9I8
resolver
uniprot_sec
F1T0E1
resolver
uniprot_sec
O00343
resolver
uniprot_sec
Q13340
resolver
uniprot_sec
Q5U095
resolver
uniprot_sec
Q96TH0
resolver
uniprot_sec
Q99455
resolver
uniprot_sec
Q9UEC8
resolver
amino_acid_sequence
MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLETMNAEEDSLRNGGEEEDEDEDLEEEEEEEEEDDDQKPKRRGPKKKKMTKARLERFKLRRMKANARERNRMHGLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSGKSPDLVSFVQTLCKGLSQPTTNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPVHPYSYQSPGLPSPPYGTMDSSHVFHVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFTMHYPAATLAGAQSHGSIFSGTAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD
uniprot
proteins
disease_involvement
DISEASE: Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:10545951, ECO:0000269|PubMed:11719843, ECO:0000269|PubMed:26773576}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Type 2 diabetes mellitus (T2D) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:10545951}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity). {ECO:0000250|UniProtKB:Q60867}.
uniprot
proteins
mass_dalton
39920
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth. Phosphorylated by MAPK1; phosphorylation regulates heterodimerization and DNA-binding activities. Phosphorylation on Ser-266 and Ser-274 increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
10366743
uniprot
proteins
pubmed
10545951
uniprot
proteins
pubmed
11719843
uniprot
proteins
pubmed
12482979
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14752053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21697133
uniprot
proteins
pubmed
25477324
uniprot
proteins
pubmed
26773576
uniprot
proteins
pubmed
8786144
uniprot
proteins
pubmed
8915591
uniprot
proteins
pubmed
9144558
uniprot
proteins
sequence_length
356
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:14752053}. Note=In pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation (By similarity). Colocalizes with NR0B2 in the nucleus. {ECO:0000250}.
uniprot
proteins