Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

IGF1

Aliases

IGF, IGF-I, IGFI, MGF

Entrez Gene ID

3479

Gene Name

Insulin like growth factor 1

Chromosomal Location

12q23.2

HGNC ID

5464

Summary

The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]

RefSeq DNA

NG_011713.1

RefSeq mRNA

NM_001111283.3, NM_000618.5, NM_001111284.2, NM_001111285.3

e!Ensembl

Gene	ENSG00000017427
Transcript	ENST00000337514, ENST00000481539, ENST00000392904, ENST00000644491, ENST00000424202, ENST00000392905, ENST00000307046
Protein	ENSP00000337612, , ENSP00000376637, ENSP00000494228, ENSP00000416811, ENSP00000376638, ENSP00000302665

SNPs

SNP	SNP ID	Associated disease	References
single SNPs of the genes in the IGF-1 axis (IGF-1(6093), IGF-1(1770),IGF1R, IGF-2(3123), IGF-2(3580), IGF2R, IGFBP-3(?202))		Central Precocious Puberty (CPP)	30249230

Gene Ontology (GO)

Show/Hide all(84 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000187	Biological process	Activation of MAPK activity	IMP	22351760
GO:0001501	Biological process	Skeletal system development	TAS	10448861
GO:0001775	Biological process	Cell activation	IDA	22797923
GO:0007165	Biological process	Signal transduction	TAS	10448861
GO:0007265	Biological process	Ras protein signal transduction	TAS	10848592
GO:0007517	Biological process	Muscle organ development	TAS	10448861
GO:0008283	Biological process	Cell proliferation	IMP	1847964, 9714146
GO:0008284	Biological process	Positive regulation of cell proliferation	IDA	7688386, 9722506, 12746903
GO:0008284	Biological process	Positive regulation of cell proliferation	IMP	19578119
GO:0009408	Biological process	Response to heat	IDA	11404306
GO:0009441	Biological process	Glycolate metabolic process	TAS	10448861
GO:0010468	Biological process	Regulation of gene expression	IMP	21543511
GO:0010560	Biological process	Positive regulation of glycoprotein biosynthetic process	IMP	9564845
GO:0010613	Biological process	Positive regulation of cardiac muscle hypertrophy	IDA	19654000
GO:0010613	Biological process	Positive regulation of cardiac muscle hypertrophy	IMP	19933931
GO:0010628	Biological process	Positive regulation of gene expression	IGI	22635104
GO:0010629	Biological process	Negative regulation of gene expression	IDA	29167509
GO:0014065	Biological process	Phosphatidylinositol 3-kinase signaling	IMP	24508636
GO:0014068	Biological process	Positive regulation of phosphatidylinositol 3-kinase signaling	IDA	7688386
GO:0014834	Biological process	Skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IDA	17531227
GO:0014896	Biological process	Muscle hypertrophy	IMP	10191278
GO:0014904	Biological process	Myotube cell development	IDA	17531227
GO:0014911	Biological process	Positive regulation of smooth muscle cell migration	IDA	10766744
GO:0030166	Biological process	Proteoglycan biosynthetic process	IDA	12746903
GO:0030166	Biological process	Proteoglycan biosynthetic process	IMP	9564845
GO:0030335	Biological process	Positive regulation of cell migration	IMP	24508636
GO:0032148	Biological process	Activation of protein kinase B activity	IMP	22351760
GO:0032691	Biological process	Negative regulation of interleukin-1 beta production	IGI	27277332
GO:0032720	Biological process	Negative regulation of tumor necrosis factor production	IGI	27277332
GO:0034392	Biological process	Negative regulation of smooth muscle cell apoptotic process	IDA	16942485
GO:0035630	Biological process	Bone mineralization involved in bone maturation	IDA	16433617
GO:0040014	Biological process	Regulation of multicellular organism growth	IEP	8421089
GO:0042060	Biological process	Wound healing	IDA	17531227
GO:0042104	Biological process	Positive regulation of activated T cell proliferation	IDA	15694994
GO:0042531	Biological process	Positive regulation of tyrosine phosphorylation of STAT protein	IDA	9722506
GO:0043066	Biological process	Negative regulation of apoptotic process	IMP	11949853
GO:0043388	Biological process	Positive regulation of DNA binding	IDA	19654000
GO:0043410	Biological process	Positive regulation of MAPK cascade	IDA	19654000
GO:0043491	Biological process	Protein kinase B signaling	IMP	24508636
GO:0043568	Biological process	Positive regulation of insulin-like growth factor receptor signaling pathway	IDA	7688386, 10766744
GO:0045445	Biological process	Myoblast differentiation	IDA	17531227
GO:0045669	Biological process	Positive regulation of osteoblast differentiation	IDA	16433617
GO:0045725	Biological process	Positive regulation of glycogen biosynthetic process	IDA	21076856
GO:0045821	Biological process	Positive regulation of glycolytic process	IDA	7688386
GO:0045840	Biological process	Positive regulation of mitotic nuclear division	IDA	7188854, 10644978
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	9722506, 19654000
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	15059951
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	16433617
GO:0046326	Biological process	Positive regulation of glucose import	IDA	21076856
GO:0046579	Biological process	Positive regulation of Ras protein signal transduction	IDA	9722506
GO:0048009	Biological process	Insulin-like growth factor receptor signaling pathway	IMP	19578119, 22351760
GO:0048015	Biological process	Phosphatidylinositol-mediated signaling	IDA	7692086
GO:0048146	Biological process	Positive regulation of fibroblast proliferation	IDA	7188854
GO:0048661	Biological process	Positive regulation of smooth muscle cell proliferation	IDA	10766744, 16942485
GO:0050679	Biological process	Positive regulation of epithelial cell proliferation	IDA	7188854
GO:0050714	Biological process	Positive regulation of protein secretion	IMP	9564845
GO:0050731	Biological process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	7782332, 22635104
GO:0050821	Biological process	Protein stabilization	IMP	9564845
GO:0051450	Biological process	Myoblast proliferation	IDA	17531227
GO:0060283	Biological process	Negative regulation of oocyte development	IMP	21543511
GO:0061051	Biological process	Positive regulation of cell growth involved in cardiac muscle cell development	IDA	24117217
GO:0061051	Biological process	Positive regulation of cell growth involved in cardiac muscle cell development	IGI	24117217
GO:0070371	Biological process	ERK1 and ERK2 cascade	IMP	24508636
GO:0070886	Biological process	Positive regulation of calcineurin-NFAT signaling cascade	IDA	19654000
GO:0150079	Biological process	Negative regulation of neuroinflammatory response	IGI	27277332
GO:1902430	Biological process	Negative regulation of amyloid-beta formation	IGI	27277332
GO:1904075	Biological process	Positive regulation of trophectodermal cell proliferation	IMP	24508636
GO:1904646	Biological process	Cellular response to amyloid-beta	IGI	22635104
GO:1904707	Biological process	Positive regulation of vascular smooth muscle cell proliferation	IMP	26166810
GO:1905460	Biological process	Negative regulation of vascular associated smooth muscle cell apoptotic process	IMP	26166810
GO:2000679	Biological process	Positive regulation of transcription regulatory region DNA binding	IDA	15059951
GO:2001237	Biological process	Negative regulation of extrinsic apoptotic signaling pathway	IDA	16942485
GO:0005576	Cellular component	Extracellular region	NAS	14718574
GO:0005615	Cellular component	Extracellular space	IDA	7188854, 11404306, 17119061, 25152160
GO:0016942	Cellular component	Insulin-like growth factor binding protein complex	IC	10766744
GO:0035867	Cellular component	Alphav-beta3 integrin-IGF-1-IGF1R complex	IDA	19578119
GO:0042567	Cellular component	Insulin-like growth factor ternary complex	IDA	9497324
GO:0005158	Molecular function	Insulin receptor binding	IPI	8452530
GO:0005159	Molecular function	Insulin-like growth factor receptor binding	IDA	19578119
GO:0005159	Molecular function	Insulin-like growth factor receptor binding	IMP	1847964, 2967174
GO:0005159	Molecular function	Insulin-like growth factor receptor binding	IPI	8452530
GO:0005178	Molecular function	Integrin binding	IDA	19578119, 22351760
GO:0005179	Molecular function	Hormone activity	IDA	7188854
GO:0005515	Molecular function	Protein binding	IPI	8452530, 10766744, 15642270, 16924115, 21645859, 22578544, 26027733

Protein Information

Protein Name

Insulin-like growth factor I, insulin-like growth factor 1 (somatomedin C), insulin-like growth factor IB, mechano growth factor, somatomedin-C

Function

The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation (PubMed:21076856, PubMed:24132240). Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb (By similarity). Acts as a ligand for IGF1R. Binds to the alpha subunit of IGF1R, leading to the activation of the intrinsic tyrosine kinase activity which autophosphorylates tyrosine residues in the beta subunit thus initiatiating a cascade of down-stream signaling events leading to activation of the PI3K-AKT/PKB and the Ras-MAPK pathways. Binds to integrins ITGAV:ITGB3 and ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and IGFR1 are essential for IGF1 signaling. Induces the phosphorylation and activation of IGFR1, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:19578119, PubMed:22351760, PubMed:23696648, PubMed:23243309).

Refseq Proteins

NP_001104753.1, NP_000609.1, NP_001104754.1, NP_001104755.1

UniProt

P05019

PDB

1B9G, 1BQT, 1GF1, 1GZR, 1GZY, 1GZZ, 1H02, 1H59, 1IMX, 1PMX, 1TGR, 1WQJ, 2DSP, 2DSQ, 2DSR, 2GF1, 3GF1, 3LRI, 4XSS, 5U8Q, 6FF3, 6PYH, 6RVA