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FLASH GENE

Symbol

INS

contributors: mct/npt/shn - updated : 16-10-2010

HGNC name	insulin
HGNC id	6081

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MODY10 maturity onset diabetes of the young, type 10 PNDM4 permanent neonatal diabetes mellitus 4
Location	11p15.5      Physical location : 2.181.008 - 2.182.439
Synonym name	proinsulin
Synonym symbol(s)	ILPR, IRDN, IDDM2, MODY10

DNA

TYPE	functioning gene
STRUCTURE	1.43 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   HRE
text structure	four regulatory elements within the insulin promoter, the cyclic AMP responsive element (CRE) binding by far the most diverse array of transcription factors (Hay 2007)
	CRE2 binding ATF2 (Hay 2007)
	KLF11overexpression-mediated inhibition of proinsulin gene expression and characterise a prominent role for the CACCC box in maintaining basal proinsulin promoter activity (Niu 2007)
	; promoter CpG demethylation may play a crucial role in beta cell maturation and tissue-specific insulin gene expression (Kuroda 2009)

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - D11S4177 - D11S922 - INS - DD11S4088 - D11S4146 - cen
Authors	Glaser (89), Puech (92), Higgins (94), Whitmore (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000207 (transcrit variant 1) 3 - 469 NP_000198 - 110 - Arcaro (2007) NM_001185098 (transcrit variant 3) 3 splicing 648 NP_001172027 - 110 - - NM_001185097 (transcrit vrariant 2) 3 splicing 495 NP_001172026 - 110 - -

EXPRESSION

Type	restricted

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

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

fluid/secretion

at STAGE

IMPRINTING	maternally
text	paternally expressed

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a B-chain
	a connecting C-peptide
	an A-chain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to murine Ins2
	ortholog to ins, Danio rerio
	ortholog to INS, Pan troglodytes

Homologene

FAMILY

insulin family

CATEGORY

signaling hormone

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	key protein hormone that regulates blood glucose levels and, thus, has widespread impact on lipid and protein metabolism (Jirácek 2010)
	increasing cell permeability to monosaccharides, amino-acids, fatty acids
	regulating the activity of ERK5

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

hormonal

a component

two peptides A and B covalently linked via two disulfide bounds

INTERACTION

DNA	SYT8 gene (

RNA

small molecule

protein	granuphilin (
	leptin (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MODY10 , PNDM4

Susceptibility

to childhood obesity

Variant & Polymorphism repeat	VNTR increasing the risk of childhood obesity

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS