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TPH1 tryptophan hydroxylase 1 [ Homo sapiens (human) ]

Gene ID: 7166, updated on 3-Jun-2018
Official Symbol
TPH1provided by HGNC
Official Full Name
tryptophan hydroxylase 1provided by HGNC
Primary source
HGNC:HGNC:12008
See related
Ensembl:ENSG00000129167 MIM:191060; Vega:OTTHUMG00000166421
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]
Expression
Biased expression in stomach (RPKM 7.1), colon (RPKM 5.4) and 7 other tissues See more
Orthologs
See TPH1 in Genome Data Viewer
Location:
11p15.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 potassium voltage-gated channel subfamily C member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene uncharacterized LOC107984317 Neighboring gene uncharacterized LOC107984318 Neighboring gene serum amyloid A like 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

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
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
 
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
    ENSP00000250018.2, OTTHUMP00000232851, ENST00000250018.6, OTTHUMT00000389696
    Conserved Domains (1) summary
    TIGR01270
    Location:3439
    Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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