• Gene id: 7166

Gene Summary

• Gene Symbol: TPH1   Gene   UCSC   Ensembl
• Aliases: TPRH, TRPH
• Gene name: tryptophan hydroxylase 1
• Alternate names: tryptophan 5-hydroxylase 1, L-tryptophan hydroxylase, indoleacetic acid-5-hydroxylase, tryptophan 5-monooxygenase 1, tryptophan hydroxylase (tryptophan 5-monooxygenase),
• Gene location: 11p15.1 (18046268: 18017554)     Exons: 9     NC_000011.10
• Gene summary(Entrez): 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 associat
• OMIM: 191060

Protein Summary

• Protein general information: P17752  
  • Name: Tryptophan 5 hydroxylase 1 (EC 1.14.16.4) (Tryptophan 5 monooxygenase 1)
  • Length: 444  
  • Mass: 50985
  • Tissue specificity: Isoform 2 seems to be less widely expressed than isoform 1.
• Sequence:

  MIEDNKENKDHSLERGRASLIFSLKNEVGGLIKALKIFQEKHVNLLHIESRKSKRRNSEFEIFVDCDINREQLND
  IFHLLKSHTNVLSVNLPDNFTLKEDGMETVPWFPKKISDLDHCANRVLMYGSELDADHPGFKDNVYRKRRKYFAD
  LAMNYKHGDPIPKVEFTEEEIKTWGTVFQELNKLYPTHACREYLKNLPLLSKYCGYREDNIPQLEDVSNFLKERT
  GFSIRPVAGYLSPRDFLSGLAFRVFHCTQYVRHSSDPFYTPEPDTCHELLGHVPLLAEPSFAQFSQEIGLASLGA
  SEEAVQKLATCYFFTVEFGLCKQDGQLRVFGAGLLSSISELKHALSGHAKVKPFDPKITCKQECLITTFQDVYFV
  SESFEDAKEKMREFTKTIKRPFGVKYNPYTRSIQILKDTKSITSAMNELQHDLDVVSDALAKVSRKPSI

• Structural information:
  • Protein Domains: (19..9-)
    (/note="ACT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01007"-)
  • Interpro: IPR002912  IPR001273  IPR018301  IPR036951  IPR036329   IPR019774  IPR005963  IPR041904  IPR019773  
  • Prosite: PS51671 PS00367 PS51410
  • CDD: cd03346
  • PDB: 1IN9 1MLW 3HF6 3HF8 3HFB 5J6D 5L01 5TPG
  • PDBsum: 1IN9 1MLW 3HF6 3HF8 3HFB 5J6D 5L01 5TPG
  • STRING: ENSP00000250018
• Other Databases: GeneCards:  TPH1  Malacards:  TPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004510	tryptophan 5-monooxygenase activity	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004510	tryptophan 5-monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0016714	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0009072	aromatic amino acid family metabolic process	IEA	biological process
GO:0042427	serotonin biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0042427	serotonin biosynthetic process	IEA	biological process
GO:0004510	tryptophan 5-monooxygenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046219	indolalkylamine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0004510	tryptophan 5-monooxygenase activity	IEA	molecular function
GO:0045600	positive regulation of fat cell differentiation	IEA	biological process
GO:0004510	tryptophan 5-monooxygenase activity	IEA	molecular function
GO:0035902	response to immobilization stress	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0060749	mammary gland alveolus development	IEA	biological process
GO:0046849	bone remodeling	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0042427	serotonin biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04726	Serotonergic synapse
hsa00380	Tryptophan metabolism
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Scoliosis	PMID:18794762
Alzheimer's disease	PMID:15182943
Personality disorder	PMID:16495936
Attention deficit hyperactivity disorder	PMID:20921119
Mental depression	PMID:17134762
Mental depression	PMID:16165107
Schizophrenia	PMID:15211625
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881