| ortholog to
Neurod1,
| ortholog to
Neurod1, Rattus norvegicus
|
| ortholog to
NEUROD1,
FAMILY
| NeurodD family of BHLH (basic helix loop helix) transcription factors |
CATEGORY
|
transcription factor
|
SUBCELLULAR LOCALIZATION
| intracellular
|
| intracellular,cytoplasm
|
| intracellular,nucleus,nucleoplasm
| text
| retained in the cytoplasm of multiple endoccrine neoplasia type 1 islet and pancreatic endocrine tumor cells |
basic FUNCTION
| critical for the normal development of several specialized cell types arising from the gut endoderm | |
regulating granule cell differentiation in the cerebellum and hippocampus | |
neurogenesis regulator D1 playing a role in neuronal differentiation | |
transactivating NEUROD2 in trophoblast cells (NEUROD differentiation cascade during first trimester human placental development) | |
proneural basic helix-loop-helix (bHLH) transcription factors not only initiating neuronal differentiation but also potentiating cell migration | |
important in the development of the hippocampal dentate gyrus and the cerebellum, and regulates neuronal and sensory cell development in both the cochlear and vestibular systems | |
a specific and an essential role of neuroD in photoreceptor formation in the chick retina | |
plays an important role in the development of the pancreas and the nervous system | |
contribute to both beta cell-specific and glucose-responsive insulin gene transcription | |
early function of NEUROD1 in regulating the specification of alpha, PP and epsilon cells | |
critical role of for NEUROG2 and NEUROD1 in controlling neuronal commitment and hippocampal granule neuroblast formation, both during embryonic development and in post-natal hippocampal granule neurogenesis | |
cell-intrinsically required for the survival and maturation of adult-born neurons | |
predominantly expressed in the nervous system late in development and is therefore more likely to be involved in terminal differentiation, neuronal maturation and survival | |
having functions cell intrinsically in progenitors/immature neurons to promote their survival and maturation into mature granule neurons | |
regulating expression of the insulin gene | |
differentiation factor required for dendrite morphogenesis and maintenance in the cerebellar cortex | |
a downstream effector of Wnts in adult neurogenesis selectively expressed in dividing neural progenitors and in immature granule neurons in the adult dentate gyrus | |
is both necessary and sufficient to induce key steps in terminal neuronal differentiation | |
critical for glucagon gene transcription and alpha cell differentiation | |
critical role of the neuronal differentiation factor NEUROD1 in neuroblastoma as well as its functional relationship with the neuronal repellent factor SLIT2 | |
involved in the development of neural and endocrine structures, including the retina and pineal gland | |
is a lineage-dependent oncogene acting through its downstream target, NTRK2, across multiple cancer types | |
|
CELLULAR PROCESS
| cell life, differentiation
|
|
nucleotide, transcription
|
| cell organization/biogenesis
|
PHYSIOLOGICAL PROCESS
|
development
, nervous system
|
signaling
|
sensory transduction/hearing
|
a component
| heterodimerizing with other bhlh proteins and activating transcription of gene that contain a specific DNA sequence known as the E-box |
protein
| proopiomelanocortin, POMC | |
E1A binding protein p300, EP300 | |
huntingtin-associated protein 1,HAP1 and mixed-lineage kinase 2, MLK2 | |
ras responsive element binding protein 1, RREB1 | |
v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian), MAFA | |
regulates insulin gene (INS) expression by binding to a critical E-box motif on the INS promoter | |
NKX2-2 in order to regulate pancreatic islet cell fates, and this epistatic relationship is cell-type dependen) | |
transcriptional activator for insulin gene expression, and the interactions of ISL1 with NEUROD1 are required for the transcriptional activity of the insulin gene | |
interacting with PAX6 (binds directly and activates the promoter region of MAFB, MAF, and NEUROD1 genes in pancreatic alpha cells) | |
ATF2 interacts with beta-cell-enriched transcription factors, MAFA, PDX1, and NEUROD1, and activates insulin gene transcription | |
INSM2 plays potentially an important role in the differentiation cascade of NEUROG3/NEUROD1 signaling in pancreatic islets | |
implicated in the neurogenesis and early differentiation of pancreatic endocrine cells | |
directly bound to the first and second E-box of the SLIT2 promoter region | |
essential for NHLH1 induction | |
upstream regulator of NHLH1 expression, but not NHLH2 expression | |
NEUROD4 and NEUROD6 are factors that are closely related to NEUROD1 and NEUROD2 | |
downstream target of ATOH1, having potentially an independent role that is unrelated to the survival or differentiation of the inner ear hair cells | |
EYA1 and SIX1 are key transcription factors in initiating the neuronal developmental program, probably by recruiting and interacting with the SWI/SNF chromatin-remodeling complex to specifically mediate NEUROG1 and NEUROD1 transcription | |
may act through AIPL1 and other genes to maintain photoreceptor homeostasis | |
NKX2.2 represses NEUROD1 in pancreatic alpha cells | |
NTRK2 and NCAM1 are downstream targets of NEUROD1 that contribute to the actions of NEUROD1 in neuroendocrine lung | |
NEUROG2, NEUROD1, and EBF3 inducing MTURN | |
interaction between ZEB1 and CTBP2 in the embryonic cerebral cortex is required for ZEB1 to elicit its effect on the multipolar-to-bipolar transition, but not its suppression of NEUROD1 |
activated by
| neurogenin 3 (NGN3) at early stage of islet cell differentiation |
| MAP3K10 (facilitated by HD and HAP1) |
| valproic acid, for the induction and suppression of neuronal and glial differentiation |
repressed by
| cyclin D1, CCND1 |
Other
| phosphorylated in islet cells upon glucose stimulation |
| in activated neurons, phosphorylation promotes dendritic growth |
corresponding disease(s)
|
MODY6
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
| --other
|  
|
differentially expressed in pituitary adenomas | tumoral
|  
|  
| --over
|  
|
was closely associated with poor prognosis in neuroblastoma | |
Variant & Polymorphism
other
| H241Q mutation seems to be associated with disease among set of MODYX families and to precipitate type 2-like diabetes in excessively obese individuals | |
|
Candidate gene
Marker
| NEUROD1 promoter methylation is a chemosensitivity marker in estrogen receptor-negative breast cancer | Therapy target
| | |
| Mice carrying a targeted disruption of the BETA2 gene develop severe diabetes and die perinatally | |
mice homozygous for a targeted disruption of Neurod1 dislay abnormal pancreatic islet morphogenesis and develop diabetes due in part to inadequate expression of the insulin gene 2 | |
Mice carrying a BETA2/NeuroD1 null mutation exhibit behavioral abnormalities suggestive of an inner ear defect, including lack of responsiveness to sound, hyperactivity, head tilting, and circling | |
mice with an inducible stem cell | |
specific deletion of Neurod1, resulting in substantially fewer newborn neurons in the hippocampus and olfactory bulb |
| |