Format

Send to:

Choose Destination

TPH1 tryptophan hydroxylase 1 [ Homo sapiens (human) ]

Gene ID: 7166, updated on 8-May-2016
Official Symbol
TPH1provided by HGNC
Official Full Name
tryptophan hydroxylase 1provided by HGNC
Primary source
HGNC:HGNC:12008
See related
Ensembl:ENSG00000129167 HPRD:01846; MIM:191060
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TPRH; TRPH
Summary
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]
Orthologs
Location:
11p15.3-p14
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (18020537..18040788, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18042084..18062354, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene myogenic differentiation 1 Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene serum amyloid A like 1 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 5 Neighboring gene MAS related GPR family member X3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: SERGEF

Homology

Clone Names

  • MGC119994

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
tryptophan 5-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aromatic amino acid family metabolic process IEA
Inferred from Electronic Annotation
more info
 
bone remodeling IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
indolalkylamine biosynthetic process TAS
Traceable Author Statement
more info
 
mammary gland alveolus development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ossification IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
serotonin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tryptophan 5-hydroxylase 1
Names
L-tryptophan hydroxylase
indoleacetic acid-5-hydroxylase
tryptophan 5-monooxygenase 1
tryptophan hydroxylase (tryptophan 5-monooxygenase)
NP_004170.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011947.1 RefSeqGene

    Range
    5001..25252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004179.2NP_004170.1  tryptophan 5-hydroxylase 1

    See identical proteins and their annotated locations for NP_004170.1

    Status: REVIEWED

    Source sequence(s)
    AC055860, BC106739, BM451912, BP423529
    Consensus CDS
    CCDS7829.1
    UniProtKB/Swiss-Prot
    P17752
    Related
    ENSP00000250018, OTTHUMP00000232851, ENST00000250018, OTTHUMT00000389696
    Conserved Domains (3) summary
    TIGR01270
    Location:3439
    Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
    cd04929
    Location:1890
    ACT_TPH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tryptophan hydroxylases (TPH), both peripheral (TPH1) and neuronal (TPH2) enzymes
    cd03346
    Location:106392
    eu_TrpOH; Eukaryotic tryptophan hydroxylase (TrpOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    18020537..18040788 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    18041619..18061874 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)