InnateDB Protein
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IDBP-58585.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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INSM1
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Protein Name
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insulinoma-associated 1
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Synonyms
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IA-1; IA1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000312631
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InnateDB Gene
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IDBG-58581 (INSM1)
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Protein Structure
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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 intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes cell cycle signaling arrest and inhibition of cellular proliferation. {ECO:0000269PubMed:11842116, ECO:0000269PubMed:16511571, ECO:0000269PubMed:16569215, ECO:0000269PubMed:18417529, ECO:0000269PubMed:19124461}.
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Subcellular Localization |
Nucleus {ECO:0000250}.
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Disease Associations |
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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:0000269PubMed:12890672, ECO:0000269PubMed:1634555}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007087
Zinc finger, C2H2
IPR015880
Zinc finger, C2H2-like
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PFAM |
PF00096
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PRINTS |
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PIRSF |
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SMART |
SM00355
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TIGRFAMs |
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Modification |
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SwissProt |
Q01101
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PhosphoSite |
PhosphoSite-Q01101
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
3642
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UniGene |
Hs.89584
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RefSeq |
NP_002187
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HUGO |
HGNC:6090
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OMIM |
600010
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CCDS |
CCDS13143
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HPRD |
02480
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IMGT |
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EMBL |
AL161658
M93119
U07172
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GenPept |
AAA20938
AAA58680
CAC36065
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