Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
NEUROD1 - neuronal differentiation 1
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).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 4760 | ENSG00000162992 | NEUROD1 | Q13562 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000162992 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-04262 | RBPJL | down-regulates | NEUROD1 | represses | R-3574 | 5 | 2 | Drugs (3) |
| CMF-05053 | ITPR3 | down-regulates | NEUROD1 | represses | R-3570 | 5 | 1 | Drugs (1) |
| CMF-06081 | FGFR3 | down-regulates | NEUROD1 | represses | R-3574 | 5 | 1 | Drugs (3) |
| CMF-06958 | ATRX | up-regulates | NEUROD1 | represses | R-3574 | 5 | 4 | Drugs (3) |
| CMF-06959 | ATRX | up-regulates | NEUROD1 | represses | R-3572 | 5 | 4 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-06960 | ATRX | up-regulates | NEUROD1 | represses | R-3571 | 5 | 4 | Drugs (5) |
| CMF-06961 | ATRX | up-regulates | NEUROD1 | represses | R-3570 | 5 | 4 | Drugs (1) |
| CMF-07663 | DPPA4 | down-regulates | NEUROD1 | represses | R-3574 | 5 | 1 | Drugs (3) |
| CMF-07990 | OR5D13 | down-regulates | NEUROD1 | represses | R-3574 | 5 | 2 | Drugs (3) |
| CMF-07991 | OR5D13 | down-regulates | NEUROD1 | represses | R-3572 | 5 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-08033 | ATP10B | down-regulates | NEUROD1 | represses | R-3570 | 5 | 1 | Drugs (1) |
| CMF-08697 | MYH14 | down-regulates | NEUROD1 | represses | R-3572 | 5 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-14205 | ZNF516 | down-regulates | NEUROD1 | represses | R-3572 | 5 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-16705 | SI | down-regulates | NEUROD1 | represses | R-3572 | 5 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-18142 | SGIP1 | down-regulates | NEUROD1 | represses | R-3574 | 5 | 1 | Drugs (3) |
| CMF-18825 | SLFN13 | down-regulates | NEUROD1 | represses | R-3570 | 5 | 1 | Drugs (1) |
| CMF-21368 | GRIK3 | down-regulates | NEUROD1 | represses | R-3572 | 5 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-21901 | PRAME | down-regulates | NEUROD1 | represses | R-3574 | 5 | 2 | Drugs (3) |
| CMF-21902 | PRAME | down-regulates | NEUROD1 | represses | R-3571 | 5 | 2 | Drugs (5) |
| CMF-22629 | IDH1 | up-regulates | NEUROD1 | represses | R-3574 | 5 | 4 | Drugs (3) |
| CMF-22630 | IDH1 | up-regulates | NEUROD1 | represses | R-3572 | 5 | 4 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-22631 | IDH1 | up-regulates | NEUROD1 | represses | R-3571 | 5 | 4 | Drugs (5) |
| CMF-22632 | IDH1 | up-regulates | NEUROD1 | represses | R-3570 | 5 | 4 | Drugs (1) |
| CMF-26006 | CTNNA2 | down-regulates | NEUROD1 | represses | R-3572 | 5 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-27338 | CHD5 | down-regulates | NEUROD1 | represses | R-3570 | 5 | 1 | Drugs (1) |
| CMF-28220 | REPIN1 | down-regulates | NEUROD1 | represses | R-3574 | 5 | 3 | Drugs (3) |
| CMF-28221 | REPIN1 | down-regulates | NEUROD1 | represses | R-3572 | 5 | 3 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-28222 | REPIN1 | down-regulates | NEUROD1 | represses | R-3571 | 5 | 3 | Drugs (5) |
| CMF-28483 | IFT172 | up-regulates | NEUROD1 | represses | R-3570 | 5 | 1 | Drugs (1) |
| CMF-30364 | CACNA1I | down-regulates | NEUROD1 | represses | R-3570 | 5 | 1 | Drugs (1) |