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FLASH GENE

Symbol

INSM1

contributors: mct/npt - updated : 13-05-2009

HGNC name	insulinoma-associated 1
HGNC id	6090

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       highly Nervous brain       moderately Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage
cell lines	insulinoma and other neuroendocrine tumor cell lines, small cells lung cancer
fluid/secretion

at STAGE

physiological period

fetal

Text	exclusively expressed in the foetal pancreas and nervous system, and in tumours of neuroendocrine origin

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal SNAG motif (repressor motif), proline-rich portion of required for cyclin D1 (CCND1) binding (Zhang 2009)
	three proline-rich domain
	a zinc finger DNA-binding domain and a putative prohormone domain
	five zinc finger protein, class I (Cys2-His2) at the C terminus

HOMOLOGY

Homologene

FAMILY

SNAG transcriptional repressor family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	recruits cyclin D1 (CCND1) and HDACs, which confer transcriptional repressor activity
	may be auto-regulated and play a role in pancreas and neuronal development
	zinc finger transcription factor that plays an important role in pancreatic beta-cell development (Zhang 2009)
	functions as a transcriptional repressor of the NEUROD1 gene through the recruitment of cyclin D1 and histone deacetylases specifically in the regulation of the NEUROD1 gene
	binds to cyclin D1, interrupts cell cycle signaling, and inhibits cellular proliferation (Zhang 2009)

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	SORBS1
	recruits cyclin D1 and HDACs, which confer transcriptional repressor activity
	interacting with CCND1 (binding to cyclin D1 could inhibit the CDK4 activity) (Zhang 2009)
	novel HH target

cell & other

REGULATION

activated by

NEUROD1 transcription through the proximal E-box element of the INSM1 promoter

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene	marker for neuroendocrine differentiation in human lung tumors
Marker
Therapy target

ANIMAL & CELL MODELS