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

Gene Information

Gene Symbol

IRS1

Aliases

HIRS-1

Entrez Gene ID

3667

Gene Name

Insulin receptor substrate 1

Chromosomal Location

2q36.3

HGNC ID

6125

Summary

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

RefSeq DNA

NG_015830.1

RefSeq mRNA

NM_005544.2, NM_005544.3

e!Ensembl

Gene	ENSG00000169047
Transcript	ENST00000305123, ENST00000498335
Protein	ENSP00000304895,

SNPs

SNP	SNP ID	Associated disease	References
G972R		Premature pubarche	11287026, 12477526

Gene Ontology (GO)

Show/Hide all(30 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007165	Biological process	Signal transduction	TAS	1311924
GO:0008284	Biological process	Positive regulation of cell proliferation	NAS	17925406
GO:0008286	Biological process	Insulin receptor signaling pathway	IBA	21873635
GO:0008286	Biological process	Insulin receptor signaling pathway	IDA	16516141, 23401856
GO:0008286	Biological process	Insulin receptor signaling pathway	IMP	16814735
GO:0008286	Biological process	Insulin receptor signaling pathway	IPI	7537849, 7559478
GO:0010907	Biological process	Positive regulation of glucose metabolic process	IMP	16814735
GO:0014065	Biological process	Phosphatidylinositol 3-kinase signaling	IDA	7782332
GO:0032000	Biological process	Positive regulation of fatty acid beta-oxidation	IMP	16814735
GO:0032868	Biological process	Response to insulin	IDA	16516141
GO:0032869	Biological process	Cellular response to insulin stimulus	IMP	16814735
GO:0042593	Biological process	Glucose homeostasis	TAS	16814735
GO:0045725	Biological process	Positive regulation of glycogen biosynthetic process	IMP	16814735
GO:0045725	Biological process	Positive regulation of glycogen biosynthetic process	NAS	17925406
GO:0046326	Biological process	Positive regulation of glucose import	IDA	7493946
GO:0046326	Biological process	Positive regulation of glucose import	IMP	16814735
GO:0046628	Biological process	Positive regulation of insulin receptor signaling pathway	IDA	7493946
GO:0046676	Biological process	Negative regulation of insulin secretion	IDA	15572028
GO:0048009	Biological process	Insulin-like growth factor receptor signaling pathway	IPI	7541045
GO:0005829	Cellular component	Cytosol	IBA	21873635
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0005901	Cellular component	Caveola	IDA	15182363
GO:0001784	Molecular function	Phosphotyrosine residue binding	IPI	20624904
GO:0005158	Molecular function	Insulin receptor binding	IBA	21873635
GO:0005158	Molecular function	Insulin receptor binding	IPI	7493946, 7537849
GO:0005159	Molecular function	Insulin-like growth factor receptor binding	IPI	7541045
GO:0005515	Molecular function	Protein binding	IPI	7513703, 7542742, 7559478, 7680095, 7680644, 7935368, 8382612, 8388384, 9295312, 11018022, 11403293, 11416002, 11694516, 14632132, 16230374, 16273093, 16582879, 18498745, 18952604, 23643389, 23770097, 24008843, 25814554
GO:0030159	Molecular function	Receptor signaling complex scaffold activity	IDA	7493946
GO:0043548	Molecular function	Phosphatidylinositol 3-kinase binding	IBA	21873635
GO:0043548	Molecular function	Phosphatidylinositol 3-kinase binding	IPI	7782332, 16043515

Protein Information

Protein Name

Insulin receptor substrate 1

Function

May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity).

Refseq Proteins

NP_005535.1

UniProt

P35568

PDB

1IRS, 1K3A, 1QQG, 2Z8C, 5U1M, 6BNT