ADHDgene Database

Gene Report

Basic Info

Approved Symbol	CPT1A
Previous Symbol	CPT1
Symbol Alias	CPT1-L, L-CPT1
Approved Name	carnitine palmitoyltransferase 1A (liver)
Location	11q13.2
Position	chr11:68522088-68609399, -
External Links	HGNC: 2328 Entrez Gene: 1374 Ensembl: ENSG00000110090 UCSC: uc001oog.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_41	chr11:67841909-69060612 (NCBI Build 36.1 (hg18))	1167044	11q13.2	Gain

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 21)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0046320	regulation of fatty acid oxidation	Biological Process		5
GO:0050796	regulation of insulin secretion	Biological Process		22
GO:0051260	protein homooligomerization	Biological Process		34
GO:0042493	response to drug	Biological Process		68
GO:0042755	eating behavior	Biological Process		7
GO:0042802	identical protein binding	Molecular Function		70
GO:0044255	cellular lipid metabolic process	Biological Process		30
GO:0032000	positive regulation of fatty acid beta-oxidation	Biological Process		1
GO:0031307	integral to mitochondrial outer membrane	Cellular Component		3
GO:0014070	response to organic cyclic compound	Biological Process		7
GO:0009437	carnitine metabolic process	Biological Process	IDA[11350182]	1
GO:0006853	carnitine shuttle	Biological Process		3
GO:0006641	triglyceride metabolic process	Biological Process		8
GO:0006635	fatty acid beta-oxidation	Biological Process		3
GO:0006006	glucose metabolic process	Biological Process		19
GO:0005743	mitochondrial inner membrane	Cellular Component		44
GO:0005741	mitochondrial outer membrane	Cellular Component		21
GO:0005739	mitochondrion	Cellular Component		183
GO:0004095	carnitine O-palmitoyltransferase activity	Molecular Function	IDA[11350182]	1
GO:0001676	long-chain fatty acid metabolic process	Biological Process	IDA[11350182]	1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03320	PPAR signaling pathway	12	Peroxisome proliferator-activated receptors (PPARs) are nucl...... Peroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) showing different expression patterns in vertebrates. Each of them is encoded in a separate gene and binds fatty acids and eicosanoids. PPARalpha plays a role in the clearance of circulating or cellular lipids via the regulation of gene expression involved in lipid metabolism in liver and skeletal muscle. PPARbeta/delta is involved in lipid oxidation and cell proliferation. PPARgamma promotes adipocyte differentiation to enhance blood glucose uptake. More...
hsa04920	Adipocytokine signaling pathway	8	Increased adipocyte volume and number are positively correla...... Increased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. More...
hsa00071	Fatty acid metabolism	4

Genes shared at least 5 GO terms with CPT1A (count: 2)

Gene Symbol	Pathway Count	Pathway List
ACAT1	6	small molecule metabolic process; protein homooligomerization; cellular lipid metabolic process; response to organic cyclic compound; mitochondrial inner membrane; mitochondrion;
PRKAB2	5	small molecule metabolic process; regulation of fatty acid oxidation; identical protein binding; cellular lipid metabolic process; carnitine shuttle;

Genes shared at least 2 KEGG pathways with CPT1A (count: 0)

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Region: chr11:68522088..68609399 View in gBrowse