ADHDgene Database

Gene Report

Basic Info

Approved Symbol	TPH1
Previous Symbol	TPRH, TPH
Approved Name	tryptophan hydroxylase 1
Previous Name	tryptophan hydroxylase (tryptophan 5-monooxygenase)
Name Alias	tryptophan 5-monooxygenase
Location	11p15.3-p14
Position	chr11:18039111-18063973, -
External Links	HGNC: 12008 Entrez Gene: 7166 Ensembl: ENSG00000129167 UCSC: uc001mnp.2
No. of Studies	6 (significant: 2; non-significant: 4; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 6)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Gizer IR, 2009	The present study does not support a relation between ADHD and this gene.	Non-significant
Ribases M, 2009(b)	little evidence of association with ADHD was found.	Non-significant
Johansson S, 2010	nine markers haplotype P-value=0.02, OR=0.74	Significant
Tang G, 2001	the data indicated that the TPH gene A218C polymorphism may not be a susceptibility factor of ADHD in the Chinese Han population	Non-significant
Brookes K, 2006	UNPHASED TDT P-value=0.299, global P-value=0.884, WHAP TDT P_sum P-value=0.253, no SNP with nominal P-value<0.05 located in this gene	Non-significant
Li J, 2006(c)	haplotype 218A/-6526G to the ADHD probands was significantly decreased, P-value=0.034, X² =4.4995; decreased transmission of haplotype 218A/-6526G emerged in families of probands with ADHD-C, P-value=0.022, X² =5.253	Significant

Gene related SNPs (count: 27)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs11606304	Chr11:18052248(Fwd)	NMD_transcript_variant; intron_variant	1(0/1/0)
rs623580	Chr11:18063977(Fwd)	upstream_gene_variant	1(0/1/0)
rs169806	Chr11:18059292(Fwd)	NMD_transcript_variant; intron_variant	1(0/1/0)
rs1799913	Chr11:18047255(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; splice_region_variant; upstream_gene_variant	1(0/1/0)
rs1800532	Chr11:18047816(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	3(1/2/0)
rs10832876	Chr11:18059929(Fwd)	NMD_transcript_variant; intron_variant	1(0/1/0)
rs17794760	Chr11:18055920(Fwd)	NMD_transcript_variant; intron_variant	1(1/0/0)
rs591556	Chr11:18061400(Fwd)	NMD_transcript_variant; intron_variant	1(0/1/0)
rs10488683	Chr11:18053545(Fwd)	NMD_transcript_variant; intron_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs6486402	Chr11:18035436(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs211102	Chr11:18046493(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs12292915	Chr11:18038118(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs17721739	Chr11:18056360(Fwd)	NMD_transcript_variant; intron_variant
rs685249	Chr11:18060587(Fwd)	NMD_transcript_variant; intron_variant
rs546383	Chr11:18065663(Fwd)	upstream_gene_variant
rs10741734	Chr11:18044648(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs7933505	Chr11:18045987(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs1607395	Chr11:18049736(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant
rs2056246	Chr11:18051446(Fwd)	NMD_transcript_variant; intron_variant
rs211107	Chr11:18058341(Fwd)	NMD_transcript_variant; intron_variant
rs684302	Chr11:18060353(Fwd)	NMD_transcript_variant; intron_variant
rs685657	Chr11:18060669(Fwd)	NMD_transcript_variant; intron_variant
rs508924	Chr11:18060900(Fwd)	NMD_transcript_variant; intron_variant
rs10488682	Chr11:18062482(Fwd)	5_prime_UTR_variant; intron_variant; upstream_gene_variant
rs11024449	Chr11:18057885(Fwd)	NMD_transcript_variant; intron_variant
rs172423	Chr11:18056225(Fwd)	NMD_transcript_variant; intron_variant
rs211105	Chr11:18055304(Fwd)	NMD_transcript_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
TPH1_promoter_A-6526G	point mutation	promoter	1 (0/1/0)
TPH1_intron7_A218C	point mutation	intron 7	2 (0/2/0)

Gene related regions (count: 0)

Gene related GO terms (count: 15)

ID	Name	Type	No. of Genes in ADHDgene
GO:0043005	neuron projection	Cellular Component	35
GO:0044281	small molecule metabolic process	Biological Process	248
GO:0035902	response to immobilization stress	Biological Process	1
GO:0042427	serotonin biosynthetic process	Biological Process	3
GO:0060749	mammary gland alveolus development	Biological Process	5
GO:0046219	indolalkylamine biosynthetic process	Biological Process	5
GO:0046849	bone remodeling	Biological Process	6
GO:0005506	iron ion binding	Molecular Function	20
GO:0004510	tryptophan 5-monooxygenase activity	Molecular Function	2
GO:0007623	circadian rhythm	Biological Process	15
GO:0005829	cytosol	Cellular Component	447
GO:0016597	amino acid binding	Molecular Function	8
GO:0009072	aromatic amino acid family metabolic process	Biological Process	2
GO:0034641	cellular nitrogen compound metabolic process	Biological Process	30
GO:0030279	negative regulation of ossification	Biological Process	4

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00380	Tryptophan metabolism	12
hsa01100	Metabolic pathways	237

Genes shared at least 5 GO terms with TPH1 (count: 5)

Gene Symbol	Pathway Count	Pathway List
TPH2	11	neuron projection; small molecule metabolic process; serotonin biosynthetic process; indolalkylamine biosynthetic process; iron ion binding; tryptophan 5-monooxygenase activity; circadian rhythm; cytosol; amino acid binding; aromatic amino acid family metabolic process; cellular nitrogen compound metabolic process;
DDC	7	small molecule metabolic process; serotonin biosynthetic process; indolalkylamine biosynthetic process; circadian rhythm; cytosol; amino acid binding; cellular nitrogen compound metabolic process;
TH	5	neuron projection; small molecule metabolic process; cytosol; amino acid binding; cellular nitrogen compound metabolic process;
AANAT	5	small molecule metabolic process; indolalkylamine biosynthetic process; circadian rhythm; cytosol; cellular nitrogen compound metabolic process;
TDO2	5	small molecule metabolic process; iron ion binding; cytosol; amino acid binding; cellular nitrogen compound metabolic process;

Genes shared at least 2 KEGG pathways with TPH1 (count: 11)

Gene Symbol	Pathway Count	Pathway List
AANAT	2	Tryptophan metabolism; Metabolic pathways;
ACAT1	2	Tryptophan metabolism; Metabolic pathways;
ALDH3A2	2	Tryptophan metabolism; Metabolic pathways;
ASMT	2	Tryptophan metabolism; Metabolic pathways;
DDC	2	Tryptophan metabolism; Metabolic pathways;
ECHS1	2	Tryptophan metabolism; Metabolic pathways;
HAAO	2	Tryptophan metabolism; Metabolic pathways;
MAOA	2	Tryptophan metabolism; Metabolic pathways;
MAOB	2	Tryptophan metabolism; Metabolic pathways;
TDO2	2	Tryptophan metabolism; Metabolic pathways;
TPH2	2	Tryptophan metabolism; Metabolic pathways;

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Region: chr11:18039111..18063973 View in gBrowse