1. Gene
  2. TPH1 - tryptophan hydroxylase 1 Gene

TPH1 - tryptophan hydroxylase 1 Gene

中文名称:色氨酸羟化酶 1

种属: Homo sapiens

同用名: TPRH; TRPH

基因 ID: 7166 | 基因类型: protein coding

关于 TPH1

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:18,017,555-18,046,269 (from NCBI)

This gene has 5 transcripts (splice variants), 256 orthologues and 3 paralogues. Biased expression in stomach (RPKM 7.1), colon (RPKM 5.4) and 7 other tissues.

功能概要

该基因编码芳香族氨基酸羟化酶家族的一个成员。编码的蛋白质催化血清素生物合成的第一步和限速步骤,血清素是一种重要的激素和神经递质。该基因的突变与多种疾病和失调的风险增加有关,包括精神分裂症、躯体焦虑、愤怒相关特征、双相情感障碍、自杀行为、成瘾等。[RefSeq 提供,2009 年 4 月]

This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and Others.[provided by RefSeq, Apr 2009]

TPH1 基因产物(1)

mRNA Protein Name
NM_004179.3 NP_004170.1 tryptophan 5-hydroxylase 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TPH1 蛋白结构

ACT

ACT: ACT domain (19 - 72)

Biopterin_H

Biopterin_H: Biopterin-dependent aromatic amino acid hydroxylase (106 - 437)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 444 a.a.
蛋白主名 其他名称

tryptophan 5-hydroxylase 1

L-tryptophan hydroxylase

重组 TPH1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73566 Tryptophan Hydroxylase 1/TPH-1 Protein, Human (His) P17752 (I2-I444) ≥95%

关联疾病

疾病名称 别名
Personality Disorder

Personality Disorders

Character Disorder

Personality

Specific Personality Disorders

Enduring Personality Change After Psychiatric Illness

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Anxiety

Anxiety Disorder

Anxiety Disorders

Anxiety State

Anxieties

Anxiety Neurosis

Generalized Anxiety Disorder

Anxiety Generalized

Hyperphenylalaninemia

Hyperphenylalaninaemia

Mast Cell Neoplasm

Mastocytoma

Mast Cell Proliferative Disease

Mast Cell Tumor

Benign Mastocytoma

Borderline Personality Disorder
Irritable Bowel Syndrome

Irritable Colon

Psychogenic Ibs

Ibs - [Irritable Bowel Syndrome]

Spastic Bowel Syndrome

Panic Disorder

Panic Anxiety Syndrome

Panic

Panic Disorder 1

Episodic Paroxysmal Anxiety Disorder

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Conduct Disorder
Brunner Syndrome

Monoamine Oxidase A Deficiency

Antisocial Behavior

BRNRS

Deficiency Of Monoamine Oxidase A

X-Linked Monoamine Oxidase Deficiency

Susceptibility To Antisocial Behavior

Antisocial Behavior, Susceptibility To

Anti-Social Behavior

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia

APS1

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Apeced

Pga I

Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

Polyglandular Autoimmune Syndrome, Type 1

Autoimmune Polyglandular Syndrome Type 1

Autoimmune Polyendocrine Syndrome Type 1

Autoimmune Polyendocrinopathy Syndrome Type 1

Whitaker Syndrome

Aps Type 1

Polyglandular Type I Autoimmune Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

Aps I

Autoimmune Polyglandular Syndrome, Type I

Polyglandular Autoimmune Syndrome, Type I

Aps 1

Autoimmune Polyglandular Syndrome Type I

Pga 1

Pga-I

Polyglandular Autoimmune Syndrome Type 1

Type I Polyglandular Autoimmune Syndrome

Aire Deficiency

Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome, Type 1

Autoimmune Polyendocrinopathy Type 1

Apeced Syndrome

Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

Ham Syndrome

Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

Medac Syndrome

Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

Aps-1

Autoimmune Polyendocrine Syndrome Type I

Autoimmune Polyendocrinopathy Syndrome Type I

Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

Polyglandular Autoimmune Syndrome Type I

Polyglandular Deficiency Syndrome Persian-Jewish Type

Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Substance Dependence
Thyroid Dyshormonogenesis 1

TDH1

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 1

Genetic Defect In Thyroid Hormonogenesis 1

Thyroid Hormonogenesis, Genetic Defect In, 1

Iodine Accumulation, Transport, Or Trapping Defect

Iodide Accumulation, Transport, Or Trapping Defect

Chdh1

Congenital Hypothyroidism Due To Dyshormonogenesis Type 1

Iodine Accumulation, Transport Or Trapping Defect

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Hypoadrenocorticism, Familial

Addison Disease

Primary Adrenocortical Insufficiency

Addison'S Disease

Adrenal Gland Hypofunction

Adrenal Hypoplasia

Adrenal Aplasia

Addison Disease, Chronic Adrenal Insufficiency

Primary Hypoadrenalism

Hypoadrenocorticism Familial

Autoimmune Addison Disease

Autoimmune Adrenalitis

Classic Addison Disease

Primary Addison Disease

Addisons Disease

Addison Disease, Susceptibility To

Autoimmune Primary Adrenal Insufficiency

Addison'S Disease Due To Autoimmunity

Anorexia Nervosa

Anorexia Nervosa, Susceptibility To

ANON

Anorexia Nervosa, Susceptibility To, 1

An

Anorexia Nervosa 1

An - [Anorexia Nervosa]

Wissler-Fanconi Syndrome

Wissler'S Syndrome

Wissler'S Subsepsis Allergica

Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Hypertryptophanemia

HYPTRP

Hypertryptophanemia, Familial

Familial Hypertryptophanemia

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency

Spr Deficiency

Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

Srd

Drd Due To Srd

Dopa-Responsive Hypersomnia

Dyt-Spr

Dyt/Park-Spr

Sr-Deficient Drd

Autosomal Recessive Sepiapterin Reductase-Deficient Drd

Spr

DRDSPRD

Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

Psychomotor Disorders

Microscopic Colitis

Colitis, Microscopic

Endogenous Depression

Clinical Depression

Unipolar Depression

Depressive Disorder

Lymphocytic Colitis

Colitis, Lymphocytic

Scoliosis
Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A

Ischemic Colitis

Colitis, Ischemic

Irreversible Ischaemic Colitis

Mental Depression

Depression

Depressive Disorder

Melancholia
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders

Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency

Dopa Decarboxylase Deficiency

Ddc Deficiency

Aromatic Amino Acid Decarboxylase Deficiency

Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

AADCD

Aromatic-L-Amino-Acid Decarboxylase Deficiency

Aromatic L-Amino-Acid Decarboxylase Deficiency

Type 1 Diabetes Mellitus 2

Diabetes Mellitus, Noninsulin-Dependent, 1

Diabetes Mellitus, Insulin-Dependent, 2

IDDM2

Insulin-Dependent Diabetes Mellitus 2

NIDDM1

Diabetes Mellitus, Noninsulin-Dependent 1

T1D2

Type 2 Diabetes Mellitus 1

T2D1

Noninsulin-Dependent Diabetes Mellitus 1

Diabetes Mellitus, Non-Insulin-Dependent, 1

Type 2 Diabetes Mellitus 1, Susceptibility To

Diabetes Mellitus, Insulin-Dependent, Type 2

Diabetes Mellitus, Non-Insulin-Dependent

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Constipation
Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris TPH1 VGNC VGNC:47738
Bos taurus TPH1 VGNC VGNC:36249
Felis catus TPH1 VGNC VGNC:66473
Rattus norvegicus TPH1 RGD RGD:3895
Mus musculus TPH1 MGD MGI:98796
Macaca mulatta TPH1 VGNC VGNC:78633