Homo sapiens Protein: INSM1
Summary
InnateDB Protein IDBP-58585.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol INSM1
Protein Name insulinoma-associated 1
Synonyms IA-1; IA1;
Species Homo sapiens
Ensembl Protein ENSP00000312631
InnateDB Gene IDBG-58581 (INSM1)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Nucleus {ECO:0000250}.
Disease Associations
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}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001047 core promoter binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0030332 cyclin binding
GO:0031490 chromatin DNA binding
GO:0042826 histone deacetylase binding
GO:0046872 metal ion binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001933 negative regulation of protein phosphorylation
GO:0003309 type B pancreatic cell differentiation
GO:0003310 pancreatic A cell differentiation
GO:0003323 type B pancreatic cell development
GO:0003358 noradrenergic neuron development
GO:0006351 transcription, DNA-templated
GO:0007049 cell cycle
GO:0008285 negative regulation of cell proliferation
GO:0010468 regulation of gene expression
GO:0030154 cell differentiation
GO:0031018 endocrine pancreas development
GO:0035270 endocrine system development
GO:0042421 norepinephrine biosynthetic process
GO:0043254 regulation of protein complex assembly
GO:0045597 positive regulation of cell differentiation
GO:0060290 transdifferentiation
GO:0061104 adrenal chromaffin cell differentiation
GO:0061549 sympathetic ganglion development
GO:0071158 positive regulation of cell cycle arrest
GO:2000179 positive regulation of neural precursor cell proliferation
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0017053 transcriptional repressor complex
Protein Structure and Domains
PDB ID
InterPro IPR007087 Zinc finger, C2H2
IPR015880 Zinc finger, C2H2-like
PFAM PF00096
PRINTS
PIRSF
SMART SM00355
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q01101
PhosphoSite PhosphoSite-Q01101
TrEMBL
UniProt Splice Variant
Entrez Gene 3642
UniGene Hs.89584
RefSeq NP_002187
HUGO HGNC:6090
OMIM 600010
CCDS CCDS13143
HPRD 02480
IMGT
EMBL AL161658 M93119 U07172
GenPept AAA20938 AAA58680 CAC36065