| Gene Symbol |
INSM1
|
| Entrez Gene |
3642
|
| Alt Symbol |
IA-1, IA1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
insulinoma-associated 1
|
| Other Description |
insulinoma-associated protein 1|zinc finger protein IA-1
|
| Swissprots |
Q01101
|
| Accessions |
AAA20938 Q01101 BM503821 M93119 AAA58680 NM_002196 NP_002187
|
| Function |
Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates skeletal muscle- specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2, HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a self-control feedback mechanism. Promotes the generation and expansion of neuronal basal progenitor cells in the developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary gland, of the pancreas and
|
| Subcellular Location |
Nucleus {ECO:0000250}.
|
| Tissue Specificity |
Expressed in pancreatic duct cells. Expressed in several tumor cell lines of neuroendocrine origin including pheochromocytoma, medullary thyroid carcinoma, insulinoma, medulloblastoma, retinoblastoma, pheochromacytoma, medullary thyroid carcinoma and small cell lung carcinoma. {ECO:0000269|PubMed:12890672, ECO:0000269|PubMed:1634555}.
|