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- Data Summary
Gene Report
Approved Symbol | HK1 |
---|---|
Approved Name | hexokinase 1 |
Location | 10q22 |
Position | chr10:71029740-71161638, + |
External Links |
HGNC: 4922 Entrez Gene: 3098 Ensembl: ENSG00000156515 UCSC: uc001jpi.3 |
No. of Studies | 1 (significant: 0; non-significant: 1; trend: 0) |
Source | Literature-origin; Mapped by LD-proxy; Mapped by literature SNP |
Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
---|---|---|
Neale BM, 2010 (b) | No significant or Trend associated SNP was mapped in this gene. | Non-significant |
Literature-origin SNPs (count: 3)
rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
rs2394534 | Chr10:71029302(Fwd) | downstream_gene_variant; upstream_gene_variant | 1(0/1/0) |
rs906219 | Chr10:71026510(Fwd) | downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs2394538 | Chr10:71033697(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
LD-proxies (count: 6)
rs_ID | Location | Functional Annotation |
---|---|---|
rs10762275 | Chr10:71040619(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs4746834 | Chr10:71041806(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs5030949 | Chr10:71038340(Fwd) | intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant |
rs10998692 | Chr10:71041527(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs10823333 | Chr10:71052888(Fwd) | intron_variant; nc_transcript_variant |
rs12218331 | Chr10:71049561(Fwd) | intron_variant; nc_transcript_variant |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 20)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa00524 | Butirosin and neomycin biosynthesis | 2 | |
hsa04930 | Type II diabetes mellitus | 14 | Insulin resistance is strongly associated with type II diabe...... Insulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Serine/threonine phosphorylation, interaction with SOCS, regulation of the expression, modification of the cellular localization, and degradation represent the molecular mechanisms stimulated by them. Various kinases (ERK, JNK, IKKbeta, PKCzeta, PKCtheta and mTOR) are involved in this process. More... |
hsa01100 | Metabolic pathways | 237 | |
hsa04973 | Carbohydrate digestion and absorption | 9 | Dietary carbohydrate in humans and omnivorous animals is a m...... Dietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested to monosaccharides, mostly glucose, galactose and fructose, prior to absorption in the small intestine. Glucose and galactose are initially transported into the enterocyte by SGLT1 located in the apical brush border membrane and then exit through the basolateral membrane by either GLUT2 or exocytosis. In a new model of intestinal glucose absorption, transport by SGLT1 induces rapid insertion and activation of GLUT2 in the brush border membrane by a PKC betaII-dependent mechanism. Moreover, trafficking of apical GLUT2 is rapidly up-regulated by glucose and artificial sweeteners, which act through T1R2 + T1R3/alpha-gustducin to activate PLC-beta2 and PKC-beta II. Fructose is transported separately by the brush border GLUT5 and then released out of the enterocyte into the blood by GLUT2. More... |
hsa00051 | Fructose and mannose metabolism | 11 | |
hsa00520 | Amino sugar and nucleotide sugar metabolism | 9 | |
hsa00052 | Galactose metabolism | 3 | |
hsa00010 | Glycolysis / Gluconeogenesis | 11 | Glycolysis is the process of converting glucose into pyruvat...... Glycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabolites: six-carbon compounds of glucose-6P and fructose-6P and three-carbon compounds of glycerone-P, glyceraldehyde-3P, glycerate-3P, phosphoenolpyruvate, and pyruvate [MD:M00001]. Acetyl-CoA, another important precursor metabolite, is produced by oxidative decarboxylation of pyruvate [MD:M00307]. When the enzyme genes of this pathway are examined in completely sequenced genomes, the reaction steps of three-carbon compounds from glycerone-P to pyruvate form a conserved core module [MD:M00002], which is found in almost all organisms and which often corresponds to operon structures in bacterial genomes. Gluconeogenesis is a synthesis pathway of glucose from noncarbohydrate precursors. It is essentially a reversal of glycolysis with minor variations of alternative paths [MD:M00003]. More... |
hsa04910 | Insulin signaling pathway | 29 | Insulin binding to its receptor results in the tyrosine phos...... Insulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the regulatory subunit of phosphoinositide 3-kinase (PI3K). PI3K activates 3-phosphoinositide-dependent protein kinase 1 (PDK1), which activates Akt, a serine kinase. Akt in turn deactivates glycogen synthase kinase 3 (GSK-3), leading to activation of glycogen synthase (GYS) and thus glycogen synthesis. Activation of Akt also results in the translocation of GLUT4 vesicles from their intracellular pool to the plasma membrane, where they allow uptake of glucose into the cell. Akt also leads to mTOR-mediated activation of protein synthesis by eIF4 and p70S6K. The translocation of GLUT4 protein is also elicited through the CAP/Cbl/TC10 pathway, once Cbl is phosphorylated by INSR. More... |
hsa00500 | Starch and sucrose metabolism | 26 |
Region: chr10:71029740..71161638 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014