Pah (phenylalanine hydroxylase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: Pah (phenylalanine hydroxylase) Mus musculus
Analyze
Symbol: Pah
Name: phenylalanine hydroxylase
RGD ID: 11050
MGI Page MGI
Description: Enables phenylalanine 4-monooxygenase activity. Predicted to be involved in L-phenylalanine metabolic process and tyrosine biosynthetic process, by oxidation of phenylalanine. Is expressed in alimentary system; liver; and liver lobe. Used to study phenylketonuria. Human ortholog(s) of this gene implicated in intellectual disability and phenylketonuria. Orthologous to human PAH (phenylalanine hydroxylase).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AW106920; phe-4-monooxygenase; phenylalanine-4-hydroxylase
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391087,357,657 - 87,419,999 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1087,357,657 - 87,419,998 (+)EnsemblGRCm39 Ensembl
GRCm381087,521,795 - 87,584,137 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1087,521,795 - 87,584,136 (+)EnsemblGRCm38mm10GRCm38
MGSCv371086,984,540 - 87,046,882 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361086,951,768 - 87,013,930 (+)NCBIMGSCv36mm8
Celera1089,475,828 - 89,562,695 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1043.64NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (EXP)
17beta-estradiol  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4-hydroxy-TEMPO  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
astaxanthin  (EXP)
atazanavir sulfate  (ISO)
azathioprine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (EXP)
caffeine  (ISO)
carbon nanotube  (EXP)
chenodeoxycholic acid  (ISO)
chrysene  (ISO)
ciprofibrate  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
coenzyme Q10  (EXP)
copper(II) sulfate  (ISO)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclosporin A  (ISO)
deoxycholic acid  (ISO)
dibenz[a,h]anthracene  (ISO)
diquat  (EXP)
dorsomorphin  (ISO)
endosulfan  (ISO)
entinostat  (ISO)
fenthion  (EXP)
flutamide  (ISO)
folic acid  (EXP)
glafenine  (ISO)
glycidol  (ISO)
glycochenodeoxycholic acid  (ISO)
glycocholic acid  (ISO)
glycodeoxycholic acid  (ISO)
icariin  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (ISO)
iodide salt  (ISO)
kojic acid  (ISO)
lipoic acid  (EXP)
lycopene  (EXP)
lysophosphatidylcholine  (EXP)
methapyrilene  (ISO)
methidathion  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-ethylmaleimide  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nitrofen  (ISO)
O-acetyl-L-carnitine  (EXP)
O-methyleugenol  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenanthrene  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (EXP)
propiconazole  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
S-methylcysteine  (EXP)
SB 431542  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
Sunset Yellow FCF  (ISO)
tartrazine  (ISO)
tauroursodeoxycholic acid  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (EXP,ISO)
tetracycline  (EXP)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
trichloroethene  (EXP)
urethane  (ISO)
valproic acid  (ISO)
vancomycin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal amino acid level  (IAGP)
abnormal brain morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal circulating amino acid level  (IAGP)
abnormal coat/hair pigmentation  (IEA)
abnormal cornea morphology  (IAGP)
abnormal corpus callosum morphology  (IAGP)
abnormal enzyme/coenzyme level  (IAGP)
abnormal learning/memory/conditioning  (IAGP)
abnormal nest building behavior  (IAGP)
abnormal olfactory discrimination memory  (IAGP)
abnormal response/metabolism to endogenous compounds  (IAGP)
abnormal sensory capabilities/reflexes/nociception  (IAGP)
abnormal sternum morphology  (IEA)
abnormal synaptic neurotransmitter level  (IAGP)
abnormal urine homeostasis  (IAGP)
audiogenic seizures  (IEA)
cataract  (IAGP)
decreased body size  (IEA)
decreased body weight  (IAGP)
decreased brain weight  (IAGP)
decreased circulating cholesterol level  (IAGP)
decreased circulating HDL cholesterol level  (IAGP)
decreased circulating LDL cholesterol level  (IAGP)
decreased circulating tyrosine level  (IAGP)
decreased exploration in new environment  (IEA)
decreased litter size  (IAGP)
decreased nervous system dopamine level  (IAGP)
decreased noradrenaline level  (IAGP)
decreased serotonin level  (IAGP)
diluted coat color  (IAGP)
dysmyelination  (IAGP)
environmentally induced seizures  (IEA)
female infertility  (IEA)
hypopigmentation  (IAGP)
impaired balance  (IAGP)
impaired swimming  (IAGP)
increased circulating phenylalanine level  (IAGP)
increased phenylalanine level  (IAGP)
microcephaly  (IAGP)
microphthalmia  (IAGP)
postnatal growth retardation  (IAGP)
reduced hair shaft melanin granule number  (IAGP)
small adrenal glands  (IEA)
small spleen  (IEA)
References

References - curated
# Reference Title Reference Citation
1. Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites. Dahl HH and Mercer JF, J Biol Chem 1986 Mar 25;261(9):4148-53.
2. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. DiLella AG, etal., Nature 1987 May 28-Jun 3;327(6120):333-6.
3. PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Eiken HG, etal., Hum Mutat. 1996;7(3):228-38.
4. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Eisensmith RC and Woo SL, Am J Hum Genet. 1992 Dec;51(6):1445-8.
5. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Guttler F, etal., Pediatrics. 2003 Dec;112(6 Pt 2):1530-3.
6. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
7. MGDs mouse GO annotations MGD data from the GO Consortium
8. MGD IEA MGD IEA
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
12. Mouse MP Annotation Import Pipeline RGD automated import pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. The PAH gene, phenylketonuria, and a paradigm shift. Scriver CR Hum Mutat. 2007 Apr 18;.
16. Linkage mapping of 40 randomly isolated liver cDNA clones in the mouse. Warden CH, etal., Genomics 1993 Nov;18(2):295-307.
Additional References at PubMed
PMID:1302014   PMID:1312261   PMID:1347477   PMID:1359872   PMID:1478665   PMID:1527991   PMID:1543915   PMID:1685136   PMID:1698554   PMID:1914521   PMID:1975791   PMID:1979872  
PMID:2203673   PMID:2253840   PMID:2308957   PMID:2334400   PMID:2721933   PMID:3360305   PMID:3378451   PMID:6098294   PMID:7387651   PMID:7601474   PMID:7615634   PMID:7851892  
PMID:7893605   PMID:7910583   PMID:7949367   PMID:8043949   PMID:8127072   PMID:8375656   PMID:8530040   PMID:8649424   PMID:8827514   PMID:8965095   PMID:9096138   PMID:9119379  
PMID:9343573   PMID:9507200   PMID:9797873   PMID:10196250   PMID:10349636   PMID:10407053   PMID:10662554   PMID:10767173   PMID:10767319   PMID:10817622   PMID:11002334   PMID:11005872  
PMID:11042159   PMID:11076861   PMID:11161825   PMID:11217851   PMID:11487255   PMID:11749047   PMID:11978492   PMID:12466851   PMID:12477932   PMID:12499868   PMID:12837019   PMID:12859675  
PMID:14681479   PMID:15110326   PMID:15464429   PMID:15556637   PMID:15760467   PMID:15863237   PMID:15946242   PMID:16055931   PMID:16141072   PMID:16141073   PMID:16150627   PMID:16164837  
PMID:16319947   PMID:17112485   PMID:18203898   PMID:18478268   PMID:18502400   PMID:19172175   PMID:19560382   PMID:20151197   PMID:20179079   PMID:20705059   PMID:21267068   PMID:21640623  
PMID:21677750   PMID:21873635   PMID:21917493   PMID:22297302   PMID:22951387   PMID:23028819   PMID:23867524   PMID:24376837   PMID:24560888   PMID:24952961   PMID:25218179   PMID:26251473  
PMID:26338263   PMID:26653793   PMID:26822703   PMID:28066199   PMID:28282402   PMID:28491049   PMID:28506393   PMID:28520731   PMID:28838957   PMID:29331172   PMID:29514280   PMID:29615849  
PMID:30046012   PMID:30201326   PMID:30297904   PMID:30875376   PMID:30926240   PMID:31970201   PMID:33051130   PMID:33602601   PMID:33790381   PMID:33824313   PMID:33993565   PMID:34353949  
PMID:34819582   PMID:37301931   PMID:37924808   PMID:38355793   PMID:38520741  


Genomics

Comparative Map Data
Pah
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391087,357,657 - 87,419,999 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1087,357,657 - 87,419,998 (+)EnsemblGRCm39 Ensembl
GRCm381087,521,795 - 87,584,137 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1087,521,795 - 87,584,136 (+)EnsemblGRCm38mm10GRCm38
MGSCv371086,984,540 - 87,046,882 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361086,951,768 - 87,013,930 (+)NCBIMGSCv36mm8
Celera1089,475,828 - 89,562,695 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1043.64NCBI
PAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812102,836,889 - 102,958,441 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12102,836,889 - 102,958,410 (-)EnsemblGRCh38hg38GRCh38
GRCh3712103,230,667 - 103,352,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612101,756,234 - 101,835,511 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412101,734,570 - 101,813,848NCBI
Celera12102,896,051 - 102,975,653 (-)NCBICelera
Cytogenetic Map12q23.2NCBI
HuRef12100,291,597 - 100,370,682 (-)NCBIHuRef
CHM1_112103,199,004 - 103,278,175 (-)NCBICHM1_1
T2T-CHM13v2.012102,797,868 - 102,919,265 (-)NCBIT2T-CHM13v2.0
Pah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8723,793,096 - 23,885,631 (+)NCBIGRCr8
mRatBN7.2721,933,179 - 21,998,134 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl721,933,179 - 21,998,130 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx723,927,881 - 23,992,835 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0726,090,559 - 26,155,515 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0725,867,639 - 25,932,579 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0728,066,639 - 28,129,772 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl728,066,635 - 28,129,769 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0728,180,707 - 28,245,428 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4724,175,898 - 24,243,592 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1724,196,183 - 24,263,859 (+)NCBI
Celera719,108,301 - 19,168,259 (+)NCBICelera
RH 3.4 Map7119.56RGD
Cytogenetic Map7q13NCBI
Pah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540537,846,354 - 37,909,457 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540537,848,486 - 37,909,163 (-)NCBIChiLan1.0ChiLan1.0
PAH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210110,904,004 - 110,982,422 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112110,900,401 - 110,978,818 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012100,417,267 - 100,496,888 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112103,811,761 - 103,891,726 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12103,811,761 - 103,891,726 (-)Ensemblpanpan1.1panPan2
PAH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11541,590,253 - 41,670,156 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1541,592,876 - 41,670,837 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1541,957,869 - 42,038,236 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01542,245,356 - 42,325,951 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1542,247,178 - 42,350,533 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11541,514,955 - 41,595,406 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01541,612,701 - 41,693,246 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01541,882,259 - 41,962,824 (-)NCBIUU_Cfam_GSD_1.0
Pah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494518,306,664 - 18,401,497 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649211,342,518 - 11,412,209 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649211,342,566 - 11,412,323 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl581,385,435 - 81,463,451 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1581,385,401 - 81,460,569 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2585,200,848 - 85,228,826 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11198,065,869 - 98,140,011 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1198,063,199 - 98,139,285 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037146,870,938 - 146,945,036 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pah
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247505,527,638 - 5,601,964 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247505,527,720 - 5,598,173 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Pah
1748 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:429
Count of miRNA genes:227
Interacting mature miRNAs:245
Transcripts:ENSMUST00000020241, ENSMUST00000133293, ENSMUST00000142088, ENSMUST00000143624
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1302035Lmb4_mlupus in MRL and B6 F2 cross (mouse)Not determined106684818792258673Mouse
12910789Pwgrq19_mpost-weaning growth rate QTL 19 (mouse)108282870092169056Mouse
1301520Uvbi1_mUVB induced immunosuppression 1 (mouse)Not determined1086909085120909229Mouse
4142137Femwf3_mfemur work to failure 3 (mouse)Not determined75338568109338767Mouse
1301787Bsc1_mbrain size control 1 (mouse)Not determined105851696992517096Mouse
27226772Tibl13_mtibia length 13, 10 week (mouse)1018875748129635869Mouse
1357594Estoq3_membryo survival total QTL 3 (mouse)Not determined1084079650122041528Mouse
27226764Tibl19_mtibia length 19, 16 week (mouse)1039175996129635869Mouse
4141479W10q8_mweight 10 weeks QTL 8 (mouse)Not determined84079650122041528Mouse
1301386Sysbp1_msystolic blood pressure 1 (mouse)Not determined101010826587401095Mouse
14747004Mancz8_mmandible centroid size 8 (mouse)1082078412116078412Mouse
4142496W6q8_mweight 6 weeks QTL 8 (mouse)Not determined84079650122041528Mouse
1302067Scc9_mcolon tumor susceptibility 9 (mouse)Not determined1018259333125575232Mouse
11039497Ltpr5a_mLeishmania tropica response 5a (mouse)1073506901107507047Mouse
26884411Bzwq8_mbi-zygomatic width QTL 8, 10 week (mouse)1044876096115935905Mouse
1357622Espq3_membryo survival preimplantation QTL 3 (mouse)Not determined1084079650122041528Mouse
4142365Egq9_mearly growth QTL 9 (mouse)Not determined84079650122041528Mouse
1300533Aem3_manti-erythrocyte autoantibody modifier 3 (mouse)Not determined106549093899491121Mouse
26884403Cvht8_mcranial vault height 8, 16 week (mouse)102287589991035862Mouse
26884407Bzwq14_mbi-zygomatic width QTL 14, 16 wee (mouse)1045476096120635905Mouse
1300797Sluc22_msusceptibility to lung cancer 22 (mouse)Not determined1086713608120713756Mouse
11251717Siim1_mstress induced immobility 1 (mouse)1078381268112381268Mouse
26884405Huml2_mhumerus length 2, 5 week (mouse)1069735830130430862Mouse
1357740Obsty3_mobesity 3 (mouse)Not determined108235478116190980Mouse
13208560Wght9_mweight 9 (mouse)1059835822120835905Mouse
1301165Lith7_mlithogenic gene 7 (mouse)Not determined1082309418116309657Mouse
1302060El3_mepilepsy 3 (mouse)Not determined106549093899491121Mouse
1300908Insq4_minsulin QTL 4 (mouse)Not determined1086909085120909229Mouse
4141054mwfh_mmodifier of white forlock hypopigmentation (mouse)Not determined83017003117017136Mouse
26884447Sklq9_mskull length QTL 9, 10 week (mouse)1067335830111735905Mouse
11353832Pcholq4_mplasma cholesterol QTL 4 (mouse)1073987216125515907Mouse
1357779Tesq3_mtestis weight QTL 3 (mouse)Not determined1084079650122041528Mouse
11059553Lmr32d_mleishmaniasis resistance 32d (mouse)1082309418116309657Mouse
11059554Lmr32e_mleishmaniasis resistance 32e (mouse)1082309418116309657Mouse
11059555Lmr32f_mleishmaniasis resistance 32f (mouse)1082309418116309657Mouse
26884426Cvht1_mcranial vault height 1, 5 week (mouse)1024675898121035905Mouse
1357638Cia29_mcollagen induced arthritis 29 (mouse)Not determined1085454982118497353Mouse
26884424Zlq9_mzygomatic length QTL 9, 16 week (mouse)1063935779115935905Mouse
1357632Vtbt9_mvertebral trabecular bone trait 9 (mouse)Not determined1075338568109338767Mouse
26884430Zlq5_mzygomatic length QTL 5, 10 week (mouse)1067835830124835905Mouse
11353843Gluq1_mblood glucose QTL 1 (mouse)1073987216125515907Mouse
10043881Adip24_madiposity 24 (mouse)Not determined1082392803116392952Mouse
1558757Eae34_mexperimental allergic encephalomyelitis susceptibility 34 (mouse)Not determined1021408154114217230Mouse
4141387Lgaq5_mlate growth adjusted QTL 5 (mouse)Not determined84079650122041528Mouse
11059550Lmr32a_mleishmaniasis resistance 32a (mouse)1082309418116309657Mouse
11059551Lmr32b_mleishmaniasis resistance 32b (mouse)1082309418116309657Mouse
26884450Sklq15_mskull length QTL 15, 16 week (mouse)1059335822122335905Mouse
4141382Ssrq4_mstress response QTL 4 (mouse)Not determined8249093890856102Mouse
1301737Insq9_minsulin QTL 9 (mouse)Not determined106549093899491121Mouse
27095911Pglq15_mpelvic girdle length QTL 15, 16 week (mouse)1039175996129635869Mouse
1300975Fembrs3_mfemur breaking strength 3 (mouse)Not determined1075338568109338767Mouse

Markers in Region
RH127306  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381087,583,846 - 87,584,058UniSTSGRCm38
MGSCv371087,046,591 - 87,046,803UniSTSGRCm37
Celera1089,562,404 - 89,562,616UniSTS
Cytogenetic Map10C2-D1UniSTS
AW106920  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381087,583,874 - 87,583,975UniSTSGRCm38
MGSCv371087,046,619 - 87,046,720UniSTSGRCm37
Celera1089,562,432 - 89,562,533UniSTS
Cytogenetic Map10C2-D1UniSTS
Whitehead/MRC_RH10999.05UniSTS
Whitehead/MRC_RH10999.65UniSTS
D10Mit118  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381087,550,455 - 87,550,595UniSTSGRCm38
MGSCv371087,013,200 - 87,013,340UniSTSGRCm37
Celera1089,529,015 - 89,529,155UniSTS
Cytogenetic Map10C2-D1UniSTS
cM Map1048.0UniSTS
Whitehead Genetic1044.8UniSTS
Whitehead/MRC_RH101001.67UniSTS
D10Mit229  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381087,565,376 - 87,565,523UniSTSGRCm38
MGSCv371087,028,121 - 87,028,268UniSTSGRCm37
Celera1089,543,905 - 89,544,052UniSTS
Cytogenetic Map10C2-D1UniSTS
cM Map1048.0UniSTS
Whitehead Genetic1044.8UniSTS
D10Mit117  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381087,565,110 - 87,565,233UniSTSGRCm38
MGSCv371087,027,855 - 87,027,978UniSTSGRCm37
Celera1089,543,639 - 89,543,762UniSTS
Cytogenetic Map10C2-D1UniSTS
cM Map1048.0UniSTS
Whitehead Genetic1044.8UniSTS
Whitehead/MRC_RH101001.67UniSTS
PMC86965P2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381087,521,663 - 87,521,855UniSTSGRCm38
MGSCv371086,984,408 - 86,984,600UniSTSGRCm37
Cytogenetic Map10C2-D1UniSTS
Pah  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381087,583,900 - 87,584,062UniSTSGRCm38
MGSCv371087,046,645 - 87,046,807UniSTSGRCm37
Celera1089,562,458 - 89,562,620UniSTS
Cytogenetic Map10C2-D1UniSTS
cM Map1047.0UniSTS


Sequence


Ensembl Acc Id: ENSMUST00000020241   ⟹   ENSMUSP00000020241
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1087,357,657 - 87,419,998 (+)Ensembl
GRCm38.p6 Ensembl1087,521,795 - 87,584,136 (+)Ensembl
Ensembl Acc Id: ENSMUST00000217864   ⟹   ENSMUSP00000151368
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1087,382,535 - 87,406,194 (+)Ensembl
GRCm38.p6 Ensembl1087,546,673 - 87,570,332 (+)Ensembl
Ensembl Acc Id: ENSMUST00000218573   ⟹   ENSMUSP00000151849
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1087,357,889 - 87,419,717 (+)Ensembl
GRCm38.p6 Ensembl1087,522,027 - 87,583,855 (+)Ensembl
Ensembl Acc Id: ENSMUST00000219813   ⟹   ENSMUSP00000151566
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1087,357,792 - 87,419,896 (+)Ensembl
GRCm38.p6 Ensembl1087,521,930 - 87,584,034 (+)Ensembl
RefSeq Acc Id: NM_008777   ⟹   NP_032803
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391087,357,657 - 87,419,999 (+)NCBI
GRCm381087,521,795 - 87,584,137 (+)ENTREZGENE
MGSCv371086,984,540 - 87,046,882 (+)RGD
Celera1089,475,828 - 89,562,695 (+)RGD
cM Map10 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_032803   ⟸   NM_008777
- UniProtKB: Q91WV1 (UniProtKB/Swiss-Prot),   P16331 (UniProtKB/Swiss-Prot),   Q3UEH8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000151849   ⟸   ENSMUST00000218573
Ensembl Acc Id: ENSMUSP00000151368   ⟸   ENSMUST00000217864
Ensembl Acc Id: ENSMUSP00000020241   ⟸   ENSMUST00000020241
Ensembl Acc Id: ENSMUSP00000151566   ⟸   ENSMUST00000219813
Protein Domains
ACT   Biopterin-dependent aromatic amino acid hydroxylase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16331-F1-model_v2 AlphaFold P16331 1-453 view protein structure

Promoters
RGD ID:6819696
Promoter ID:MM_KWN:5262
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney,   Liver
Transcripts:NM_008777,   OTTMUST00000057734,   OTTMUST00000057735
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361086,983,551 - 86,984,612 (+)MPROMDB
RGD ID:6819697
Promoter ID:MM_KWN:5263
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney,   Liver
Transcripts:OTTMUST00000057596
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361087,008,731 - 87,009,231 (+)MPROMDB
RGD ID:8672968
Promoter ID:EPDNEW_M14514
Type:initiation region
Name:Pah_1
Description:Mus musculus phenylalanine hydroxylase , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381087,521,930 - 87,521,990EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:97473 AgrOrtholog
Ensembl Genes ENSMUSG00000020051 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000020241 ENTREZGENE
  ENSMUST00000020241.17 UniProtKB/Swiss-Prot
  ENSMUST00000217864.2 UniProtKB/TrEMBL
  ENSMUST00000218573.2 UniProtKB/TrEMBL
  ENSMUST00000219813.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.800.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.260 UniProtKB/TrEMBL
InterPro ACT-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArAA_hydroxylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArAA_hydroxylase_Fe/CU_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArAA_hydroxylase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aro-AA_hydroxylase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aromatic-AA_hydroxylase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Euk_PheOH_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe-4-hydroxylase_tetra UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyrosine_3-monooxygenase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:18478 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:97473 ENTREZGENE
NCBI Gene 18478 ENTREZGENE
PANTHER PHENYLALANINE-4-HYDROXYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ACT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biopterin_H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PAH RGD
PhenoGen Pah PhenoGen
PIRSF PIRSF000336 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS FYWHYDRXLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BH4_AAA_HYDROXYL_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BH4_AAA_HYDROXYL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56534 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2P6U4_MOUSE UniProtKB/TrEMBL
  A0A1W2P781_MOUSE UniProtKB/TrEMBL
  A0A1W2P7X8_MOUSE UniProtKB/TrEMBL
  P16331 ENTREZGENE, UniProtKB/Swiss-Prot
  Q3UEH8 ENTREZGENE, UniProtKB/TrEMBL
  Q91WV1 ENTREZGENE
UniProt Secondary Q91WV1 UniProtKB/Swiss-Prot