ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

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

Gene related studies (count: 1)

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

Gene related SNPs (count: 9)

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

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 20)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005829	cytosol	Cellular Component		447
GO:0005741	mitochondrial outer membrane	Cellular Component		21
GO:0005739	mitochondrion	Cellular Component		183
GO:0005730	nucleolus	Cellular Component		243
GO:0008865	fructokinase activity	Molecular Function		2
GO:0008645	hexose transport	Biological Process		6
GO:0006096	glycolysis	Biological Process		4
GO:0005975	carbohydrate metabolic process	Biological Process		50
GO:0045121	membrane raft	Cellular Component		22
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0019158	mannokinase activity	Molecular Function		2
GO:0015758	glucose transport	Biological Process		13
GO:0055085	transmembrane transport	Biological Process		82
GO:0051156	glucose 6-phosphate metabolic process	Biological Process		2
GO:0001678	cellular glucose homeostasis	Biological Process		2
GO:0004340	glucokinase activity	Molecular Function		2
GO:0005524	ATP binding	Molecular Function		228
GO:0005634	nucleus	Cellular Component		770
GO:0004396	hexokinase activity	Molecular Function	TAS[3207429]	1
GO:0005515	protein binding	Molecular Function		910

Gene related KEGG pathways (count: 10)

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

Genes shared at least 5 GO terms with HK1 (count: 21)

Gene Symbol	Pathway Count	Pathway List
HKDC1	11	cytosol; mitochondrion; nucleolus; fructokinase activity; glycolysis; mannokinase activity; glucose 6-phosphate metabolic process; cellular glucose homeostasis; glucokinase activity; ATP binding; nucleus;
NUPL2	7	cytosol; hexose transport; carbohydrate metabolic process; small molecule metabolic process; glucose transport; transmembrane transport; nucleus;
GSK3B	6	cytosol; nucleolus; membrane raft; ATP binding; nucleus; protein binding;
MAPK1	6	cytosol; mitochondrion; nucleolus; ATP binding; nucleus; protein binding;
MAPK3	6	cytosol; mitochondrion; nucleolus; ATP binding; nucleus; protein binding;
NUP62	6	hexose transport; carbohydrate metabolic process; small molecule metabolic process; glucose transport; transmembrane transport; protein binding;
ACACA	5	cytosol; mitochondrion; small molecule metabolic process; ATP binding; protein binding;
ALDOB	5	cytosol; glycolysis; carbohydrate metabolic process; small molecule metabolic process; protein binding;
DCPS	5	cytosol; mitochondrion; nucleolus; nucleus; protein binding;
GSTP1	5	cytosol; mitochondrion; small molecule metabolic process; nucleus; protein binding;
HSPA8	5	cytosol; nucleolus; ATP binding; nucleus; protein binding;
IARS	5	cytosol; nucleolus; ATP binding; nucleus; protein binding;
PMAIP1	5	cytosol; mitochondrial outer membrane; mitochondrion; nucleus; protein binding;
PPP1CA	5	cytosol; nucleolus; small molecule metabolic process; nucleus; protein binding;
PRKD1	5	cytosol; small molecule metabolic process; ATP binding; nucleus; protein binding;
PSMC3	5	cytosol; small molecule metabolic process; ATP binding; nucleus; protein binding;
TH	5	cytosol; mitochondrion; small molecule metabolic process; nucleus; protein binding;
DDX23	5	mitochondrion; nucleolus; ATP binding; nucleus; protein binding;
NUP155	5	hexose transport; carbohydrate metabolic process; small molecule metabolic process; glucose transport; transmembrane transport;
SLC2A3	5	hexose transport; carbohydrate metabolic process; small molecule metabolic process; glucose transport; transmembrane transport;
SLC37A4	5	hexose transport; carbohydrate metabolic process; small molecule metabolic process; glucose transport; transmembrane transport;

Genes shared at least 2 KEGG pathways with HK1 (count: 48)

Gene Symbol	Pathway Count	Pathway List
HKDC1	10	Butirosin and neomycin biosynthesis; Type II diabetes mellitus; Metabolic pathways; Carbohydrate digestion and absorption; Fructose and mannose metabolism; Amino sugar and nucleotide sugar metabolism; Galactose metabolism; Glycolysis / Gluconeogenesis; Insulin signaling pathway; Starch and sucrose metabolism;
FBP1	4	Metabolic pathways; Fructose and mannose metabolism; Glycolysis / Gluconeogenesis; Insulin signaling pathway;
FBP2	4	Metabolic pathways; Fructose and mannose metabolism; Glycolysis / Gluconeogenesis; Insulin signaling pathway;
PIK3CG	3	Type II diabetes mellitus; Carbohydrate digestion and absorption; Insulin signaling pathway;
PIK3R1	3	Type II diabetes mellitus; Carbohydrate digestion and absorption; Insulin signaling pathway;
ALDOA	3	Metabolic pathways; Fructose and mannose metabolism; Glycolysis / Gluconeogenesis;
ALDOB	3	Metabolic pathways; Fructose and mannose metabolism; Glycolysis / Gluconeogenesis;
GALT	3	Metabolic pathways; Amino sugar and nucleotide sugar metabolism; Galactose metabolism;
GMDS	3	Metabolic pathways; Fructose and mannose metabolism; Amino sugar and nucleotide sugar metabolism;
GMPPA	3	Metabolic pathways; Fructose and mannose metabolism; Amino sugar and nucleotide sugar metabolism;
TSTA3	3	Metabolic pathways; Fructose and mannose metabolism; Amino sugar and nucleotide sugar metabolism;
CACNA1D	2	Type II diabetes mellitus; Carbohydrate digestion and absorption;
INS	2	Type II diabetes mellitus; Insulin signaling pathway;
MAPK1	2	Type II diabetes mellitus; Insulin signaling pathway;
MAPK3	2	Type II diabetes mellitus; Insulin signaling pathway;
MAPK9	2	Type II diabetes mellitus; Insulin signaling pathway;
ACACA	2	Metabolic pathways; Insulin signaling pathway;
ALDH3A1	2	Metabolic pathways; Glycolysis / Gluconeogenesis;
ALDH3A2	2	Metabolic pathways; Glycolysis / Gluconeogenesis;
ALDH3B1	2	Metabolic pathways; Glycolysis / Gluconeogenesis;
ALDH3B2	2	Metabolic pathways; Glycolysis / Gluconeogenesis;
DLAT	2	Metabolic pathways; Glycolysis / Gluconeogenesis;
ENPP1	2	Metabolic pathways; Starch and sucrose metabolism;
ENPP3	2	Metabolic pathways; Starch and sucrose metabolism;
GFPT2	2	Metabolic pathways; Amino sugar and nucleotide sugar metabolism;
NANS	2	Metabolic pathways; Amino sugar and nucleotide sugar metabolism;
PLCB2	2	Metabolic pathways; Carbohydrate digestion and absorption;
SORD	2	Metabolic pathways; Fructose and mannose metabolism;
UGT1A1	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A10	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A3	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A4	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A5	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A6	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A7	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A8	2	Metabolic pathways; Starch and sucrose metabolism;
UGT1A9	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2A1	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2A2	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2A3	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2B10	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2B11	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2B15	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2B17	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2B28	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2B4	2	Metabolic pathways; Starch and sucrose metabolism;
UGT2B7	2	Metabolic pathways; Starch and sucrose metabolism;
PYGM	2	Insulin signaling pathway; Starch and sucrose metabolism;

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Region: chr10:71029740..71161638 View in gBrowse