Pah (phenylalanine hydroxylase) - Rat Genome Database

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Gene: Pah (phenylalanine hydroxylase) Rattus norvegicus
Analyze
Symbol: Pah
Name: phenylalanine hydroxylase
RGD ID: 3248
Description: Enables several functions, including identical protein binding activity; iron ion binding activity; and phenylalanine 4-monooxygenase activity. Involved in L-phenylalanine metabolic process and tyrosine biosynthetic process, by oxidation of phenylalanine. Human ortholog(s) of this gene implicated in intellectual disability and phenylketonuria. Orthologous to human PAH (phenylalanine hydroxylase); PARTICIPATES IN phenylketonuria pathway; tyrosinemia type II pathway; tyrosinemia type III pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: phe-4-monooxygenase; phenylalanine-4-hydroxylase
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8723,793,096 - 23,885,631 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl723,792,781 - 23,885,627 (+)EnsemblGRCr8
mRatBN7.2721,933,179 - 21,998,134 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl721,933,179 - 21,998,130 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx723,927,881 - 23,992,835 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0726,090,559 - 26,155,515 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0725,867,639 - 25,932,579 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0728,066,639 - 28,129,772 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl728,066,635 - 28,129,769 (+)Ensemblrn6Rnor6.0
Rnor_5.0728,180,707 - 28,245,428 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4724,175,898 - 24,243,592 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera719,108,301 - 19,168,259 (+)NCBICelera
RGSC_v3.1724,196,183 - 24,263,859 (+)NCBI
RH 3.4 Map7119.56RGD
Cytogenetic Map7q13NCBI
JBrowse:




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

Gene Ontology Annotations     Click to see Annotation Detail View

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. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
6. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
7. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Guttler F, etal., Pediatrics. 2003 Dec;112(6 Pt 2):1530-3.
8. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
9. Structural basis of autoregulation of phenylalanine hydroxylase. Kobe B, etal., Nat Struct Biol. 1999 May;6(5):442-8.
10. High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. Kwitek AE, etal., Genome Res. 2004 Apr;14(4):750-7
11. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
12. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. Insights into the catalytic mechanisms of phenylalanine and tryptophan hydroxylase from kinetic isotope effects on aromatic hydroxylation. Pavon JA and Fitzpatrick PF, Biochemistry. 2006 Sep 12;45(36):11030-7.
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
17. Sequence analysis of the rat phenylalanine hydroxylase gene promoter. Rees D, etal., DNA Seq 2001;12(3):191-5.
18. GOA pipeline RGD automated data pipeline
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. The PAH gene, phenylketonuria, and a paradigm shift. Scriver CR Hum Mutat. 2007 Apr 18;.
22. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
23. Contrasting effects of N5-substituted tetrahydrobiopterin derivatives on phenylalanine hydroxylase, dihydropteridine reductase and nitric oxide synthase. Werner ER, etal., Biochem J. 2000 Jun 15;348 Pt 3:579-83.
Additional References at PubMed
PMID:2308957   PMID:6098294   PMID:7387651   PMID:9642259   PMID:18477464   PMID:20667834   PMID:20951114   PMID:23296088   PMID:23376485   PMID:23537590   PMID:25453233   PMID:26252467  
PMID:26823465   PMID:26884182   PMID:27145334   PMID:31904090   PMID:33221376  


Genomics

Comparative Map Data
Pah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8723,793,096 - 23,885,631 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl723,792,781 - 23,885,627 (+)EnsemblGRCr8
mRatBN7.2721,933,179 - 21,998,134 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl721,933,179 - 21,998,130 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx723,927,881 - 23,992,835 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0726,090,559 - 26,155,515 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0725,867,639 - 25,932,579 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0728,066,639 - 28,129,772 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl728,066,635 - 28,129,769 (+)Ensemblrn6Rnor6.0
Rnor_5.0728,180,707 - 28,245,428 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4724,175,898 - 24,243,592 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera719,108,301 - 19,168,259 (+)NCBICelera
RGSC_v3.1724,196,183 - 24,263,859 (+)NCBI
RH 3.4 Map7119.56RGD
Cytogenetic Map7q13NCBI
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 (-)Ensemblhg38GRCh38
GRCh3712103,230,667 - 103,352,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612101,756,234 - 101,835,511 (-)NCBIBuild 36Build 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
(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 EnsemblGRCm39
GRCm381087,521,795 - 87,584,137 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1087,521,795 - 87,584,136 (+)Ensemblmm10GRCm38
MGSCv371086,984,540 - 87,046,882 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361086,951,768 - 87,013,930 (+)NCBIMGSCv36mm8
Celera1089,475,828 - 89,562,695 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1043.64NCBI
Pah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540537,846,354 - 37,909,457 (-)Ensembl
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 (-)EnsemblpanPan2panpan1.1
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 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1541,957,869 - 42,038,236 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01542,245,356 - 42,325,951 (-)NCBIROS_Cfam_1.0ROS_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_1.0UU_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 (+)EnsemblSpeTri2.0 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 (+)EnsemblsusScr11Sscrofa11.1
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 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
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_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247505,527,720 - 5,598,173 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Pah
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11166,623,420 - 166,678,631 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Pah
1555 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:58
Count of miRNA genes:43
Interacting mature miRNAs:54
Transcripts:ENSRNOT00000005844
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 (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1354644Spl4Serum phospholipid level QTL 44.9blood phospholipid amount (VT:0006084)blood phospholipid level (CMO:0001169)72154197751639954Rat
7411569Bw137Body weight QTL 1370.001body mass (VT:0001259)body weight gain (CMO:0000420)72380760668807606Rat
9590102Sffal5Serum free fatty acids level QTL 58.620.001blood free fatty acid amount (VT:0001553)plasma free fatty acids level (CMO:0000546)7721609752216097Rat
1578652Bmd15Bone mineral density QTL 155.2femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)71051708662346019Rat
631503Bp102Blood pressure QTL 1021.9arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7170952746709527Rat
2298547Neuinf5Neuroinflammation QTL 53.7nervous system integrity trait (VT:0010566)spinal cord Cd74 protein level (CMO:0002131)71011291660150541Rat
10059592Kidm45Kidney mass QTL 453.950.025kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)7946087754460877Rat
2298550Neuinf6Neuroinflammation QTL 63.3nervous system integrity trait (VT:0010566)spinal cord RT1-B protein level (CMO:0002132)7129716167Rat
1354637Scl30Serum cholesterol level QTL 303.7blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)72154197751639954Rat
724560Plsm3Polydactyly-luxate syndrome (PLS) morphotypes QTL 30.0003tibia length (VT:0004357)tibia length (CMO:0000450)7134650782Rat
1354639Spl5Serum phospholipid level QTL 53.9blood LDL phospholipid amount (VT:0010505)blood low density lipoprotein phospholipid level (CMO:0001568)72154197735707405Rat
7411566Bw136Body weight QTL 13610.40.001body mass (VT:0001259)body weight gain (CMO:0000420)7132612984Rat
61410Bw19Body weight QTL 196.20.001body mass (VT:0001259)body weight (CMO:0000012)7166965846669658Rat
1643004Pain2Pain QTL 21mechanical nociception trait (VT:0002734)self mutilation severity score (CMO:0002145)71011291699900612Rat
2290372Gluco33Glucose level QTL 332.71blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)7131777942Rat
1300149Cm6Cardiac mass QTL 64.09heart mass (VT:0007028)heart left ventricle weight to body weight ratio (CMO:0000530)71104117804Rat
634336Anxrr17Anxiety related response QTL 173.66locomotor behavior trait (VT:0001392)number of entries into a discrete space in an experimental apparatus (CMO:0000960)71509236116977875Rat
9590142Scort5Serum corticosterone level QTL 524.40.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)7132612984Rat
1582260Bw72Body weight QTL 723.20.0043body mass (VT:0001259)body weight (CMO:0000012)7139960528Rat
1582261Bw69Body weight QTL 693.20.0048body mass (VT:0001259)body weight (CMO:0000012)7139960528Rat
1582262Bw75Body weight QTL 7530.0038body mass (VT:0001259)body weight (CMO:0000012)7139960528Rat
1300132Bp182Blood pressure QTL 1823.49arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)72154197786817926Rat
1300138Hrtrt9Heart rate QTL 94.72heart pumping trait (VT:2000009)heart rate (CMO:0000002)71049882055498820Rat
61369Mcs2Mammary carcinoma susceptibility QTL 23.38mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)72092049437412865Rat
738033Anxrr6Anxiety related response QTL 64.1exploratory behavior trait (VT:0010471)percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)71746044762460447Rat
70207Niddm31Non-insulin dependent diabetes mellitus QTL 313.9blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)72005723265057232Rat

Markers in Region
D7Rat225  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr8723,846,177 - 23,846,379 (+)Marker Load Pipeline
RGSC_v3.4724,202,793 - 24,202,995RGDRGSC3.4
RGSC_v3.4724,202,794 - 24,202,995UniSTSRGSC3.4
RGSC_v3.1724,223,064 - 24,223,266RGD
FHH x ACI Map75.9499RGD
FHH x ACI Map75.9499UniSTS
Cytogenetic Map7q13UniSTS
RH127306  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2721,997,836 - 21,998,049 (+)MAPPERmRatBN7.2
Rnor_6.0728,129,475 - 28,129,687NCBIRnor6.0
Rnor_5.0728,245,131 - 28,245,343UniSTSRnor5.0
RGSC_v3.4724,243,295 - 24,243,507UniSTSRGSC3.4
Celera719,167,962 - 19,168,174UniSTS
RH 3.4 Map7120.2UniSTS
Cytogenetic Map7q13UniSTS
RH94480  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2721,997,931 - 21,998,095 (+)MAPPERmRatBN7.2
Rnor_6.0728,129,570 - 28,129,733NCBIRnor6.0
Rnor_5.0728,245,226 - 28,245,389UniSTSRnor5.0
RGSC_v3.4724,243,390 - 24,243,553UniSTSRGSC3.4
Celera719,168,057 - 19,168,220UniSTS
RH 3.4 Map7119.56UniSTS
Cytogenetic Map7q13UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
15 10 16 125 91 86 59 24 59 6 226 66 5 100 78 73 27 7 7

Sequence


Ensembl Acc Id: ENSRNOT00000005844   ⟹   ENSRNOP00000005844
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl723,820,614 - 23,885,626 (+)Ensembl
mRatBN7.2 Ensembl721,933,179 - 21,998,128 (+)Ensembl
Rnor_6.0 Ensembl728,066,635 - 28,129,769 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000100186   ⟹   ENSRNOP00000095431
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl723,820,614 - 23,885,626 (+)Ensembl
mRatBN7.2 Ensembl721,933,179 - 21,998,128 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000118112   ⟹   ENSRNOP00000085873
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl723,793,246 - 23,885,627 (+)Ensembl
mRatBN7.2 Ensembl721,935,914 - 21,998,130 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000141209   ⟹   ENSRNOP00000100444
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl723,792,781 - 23,885,627 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000155954   ⟹   ENSRNOP00000100841
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl723,819,415 - 23,885,627 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000162823   ⟹   ENSRNOP00000101221
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl723,792,899 - 23,885,627 (+)Ensembl
RefSeq Acc Id: NM_012619   ⟹   NP_036751
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8723,820,686 - 23,885,631 (+)NCBI
mRatBN7.2721,933,179 - 21,998,134 (+)NCBI
Rnor_6.0728,066,639 - 28,129,772 (+)NCBI
Rnor_5.0728,180,707 - 28,245,428 (+)NCBI
RGSC_v3.4724,175,898 - 24,243,592 (+)RGD
Celera719,108,301 - 19,168,259 (+)RGD
Sequence:
RefSeq Acc Id: XM_039078417   ⟹   XP_038934345
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8723,844,072 - 23,885,631 (+)NCBI
mRatBN7.2721,956,566 - 21,998,134 (+)NCBI
RefSeq Acc Id: XM_063262995   ⟹   XP_063119065
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8723,793,096 - 23,885,631 (+)NCBI
RefSeq Acc Id: NP_036751   ⟸   NM_012619
- UniProtKB: P04176 (UniProtKB/Swiss-Prot),   Q6AYW2 (UniProtKB/TrEMBL),   F7FDL3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000005844   ⟸   ENSRNOT00000005844
RefSeq Acc Id: XP_038934345   ⟸   XM_039078417
- Peptide Label: isoform X2
Ensembl Acc Id: ENSRNOP00000095431   ⟸   ENSRNOT00000100186
Ensembl Acc Id: ENSRNOP00000085873   ⟸   ENSRNOT00000118112
RefSeq Acc Id: XP_063119065   ⟸   XM_063262995
- Peptide Label: isoform X1
- UniProtKB: P04176 (UniProtKB/Swiss-Prot),   F7FDL3 (UniProtKB/TrEMBL),   Q6AYW2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000100841   ⟸   ENSRNOT00000155954
Ensembl Acc Id: ENSRNOP00000100444   ⟸   ENSRNOT00000141209
Ensembl Acc Id: ENSRNOP00000101221   ⟸   ENSRNOT00000162823
Protein Domains
ACT   Biopterin-dependent aromatic amino acid hydroxylase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04176-F1-model_v2 AlphaFold P04176 1-453 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13695119
Promoter ID:EPDNEW_R5644
Type:initiation region
Name:Pah_1
Description:phenylalanine hydroxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0728,066,609 - 28,066,669EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:3248 AgrOrtholog
BioCyc Gene G2FUF-34528 BioCyc
BioCyc Pathway PHENYLALANINE-DEG1-PWY [L-phenylalanine degradation I (aerobic)] BioCyc
  PWY-6134 [L-tyrosine biosynthesis IV] BioCyc
BioCyc Pathway Image PHENYLALANINE-DEG1-PWY BioCyc
  PWY-6134 BioCyc
Ensembl Genes ENSRNOG00000004302 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000005844 ENTREZGENE
  ENSRNOT00000141209 ENTREZGENE
Gene3D-CATH 1.10.800.10 UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:7131414 IMAGE-MGC_LOAD
InterPro ACT-like_dom_sf UniProtKB/Swiss-Prot
  ACT_dom UniProtKB/Swiss-Prot
  ArAA_hydroxylase UniProtKB/Swiss-Prot
  ArAA_hydroxylase_Fe/CU_BS UniProtKB/Swiss-Prot
  ArAA_hydroxylase_sf UniProtKB/Swiss-Prot
  Aro-AA_hydroxylase_C_sf UniProtKB/Swiss-Prot
  Aromatic-AA_hydroxylase_C UniProtKB/Swiss-Prot
  Euk_PheOH_cat UniProtKB/Swiss-Prot
  Phe-4-hydroxylase_tetra UniProtKB/Swiss-Prot
  Tyrosine_3-monooxygenase-like UniProtKB/Swiss-Prot
MGC_CLONE MGC:93567 IMAGE-MGC_LOAD
NCBI Gene 24616 ENTREZGENE
PANTHER PHENYLALANINE-4-HYDROXYLASE UniProtKB/Swiss-Prot
  PTHR11473 UniProtKB/Swiss-Prot
Pfam ACT UniProtKB/Swiss-Prot
  Biopterin_H UniProtKB/Swiss-Prot
PharmGKB PAH RGD
PhenoGen Pah PhenoGen
PIRSF PIRSF000336 UniProtKB/Swiss-Prot
PRINTS FYWHYDRXLASE UniProtKB/Swiss-Prot
PROSITE ACT UniProtKB/Swiss-Prot
  BH4_AAA_HYDROXYL_1 UniProtKB/Swiss-Prot
  BH4_AAA_HYDROXYL_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000004302 RatGTEx
Superfamily-SCOP SSF55021 UniProtKB/Swiss-Prot
  SSF56534 UniProtKB/Swiss-Prot
UniProt A0A8I6A4T0_RAT UniProtKB/TrEMBL
  A0A8I6ANH3_RAT UniProtKB/TrEMBL
  A0ABK0L7C6_RAT UniProtKB/TrEMBL
  A0ABK0L8C1_RAT UniProtKB/TrEMBL
  A0ABK0LA21_RAT UniProtKB/TrEMBL
  F7FDL3 ENTREZGENE, UniProtKB/TrEMBL
  P04176 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6AYW2 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2002-06-10 Pah  Phenylalanine hydroxylase      Symbol and Name status set to approved 70586 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_expression enriched in liver; present in kidney 633729
gene_protein 452 amino acids; 51.6 kDa 633729