Pah (phenylalanine hydroxylase) - Rat Genome Database

Name: Pah
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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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

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	PAH (phenylalanine hydroxylase)	HGNC	HomoloGene, NCBI, Panther
Mus musculus (house mouse):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	PAH (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	PAH (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	PAH (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	PAH (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Alliance orthologs ³
Mus musculus (house mouse):	Pah (phenylalanine hydroxylase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Homo sapiens (human):	PAH (phenylalanine hydroxylase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	pah (phenylalanine hydroxylase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	pah-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Hn	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	pah	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)

Latest Assembly:

mRatBN7.2 - mRatBN7.2 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	7	21,933,179 - 21,998,134 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	21,933,179 - 21,998,130 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	23,927,881 - 23,992,835 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	26,090,559 - 26,155,515 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	25,867,639 - 25,932,579 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	28,066,639 - 28,129,772 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	28,066,635 - 28,129,769 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	28,180,707 - 28,245,428 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	24,175,898 - 24,243,592 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	24,196,183 - 24,263,859 (+)	NCBI
Celera	7	19,108,301 - 19,168,259 (+)	NCBI		Celera
RH 3.4 Map	7	119.56	RGD
Cytogenetic Map	7	q13	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (ISO)

BH4-deficient hyperphenylalaninemia A (ISO)

Chemical and Drug Induced Liver Injury (ISO)

congenital central hypoventilation syndrome (ISO)

Congenital Central Hypoventilation Syndrome 1 (ISO)

genetic disease (ISO)

Hyperphenylalaninemia, Non-Pku Mild (ISO)

intellectual disability (ISO)

Marfanoid Mental Retardation Syndrome, Autosomal (ISO)

Maternal Phenylketonuria (ISO)

phenylketonuria (ISO,ISS)

POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (ISO)

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)

3,3',4,4'-tetrachlorobiphenyl (ISO)

3-chloropropane-1,2-diol (EXP)

3-methylcholanthrene (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)

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)

dibenz[a,h]anthracene (ISO)

diquat (ISO)

dorsomorphin (ISO)

endosulfan (EXP)

entinostat (ISO)

fenthion (ISO)

flutamide (EXP)

glafenine (EXP)

glycidol (EXP)

glycochenodeoxycholic acid (ISO)

glycocholic acid (ISO)

glycodeoxycholic acid (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)

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

Biological Process

L-phenylalanine catabolic process (IEA)

L-phenylalanine metabolic process (IDA)

protein hydroxylation (IDA)

tyrosine biosynthetic process (IBA,IDA)

tyrosine biosynthetic process, by oxidation of phenylalanine (IDA,IEA,ISO)

Molecular Function

amino acid binding (IDA)

identical protein binding (IPI)

iron ion binding (IDA,IEA)

phenylalanine 4-monooxygenase activity (IBA,IDA,IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

phenylalanine metabolic pathway (IEA)

phenylalanine, tyrosine and tryptophan biosynthetic pathway (IEA)

phenylketonuria pathway (ISO)

tyrosinemia type II pathway (ISO)

tyrosinemia type III pathway (ISO)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	7	21,933,179 - 21,998,134 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	21,933,179 - 21,998,130 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	23,927,881 - 23,992,835 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	26,090,559 - 26,155,515 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	25,867,639 - 25,932,579 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	28,066,639 - 28,129,772 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	28,066,635 - 28,129,769 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	28,180,707 - 28,245,428 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	24,175,898 - 24,243,592 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	24,196,183 - 24,263,859 (+)	NCBI
Celera	7	19,108,301 - 19,168,259 (+)	NCBI		Celera
RH 3.4 Map	7	119.56	RGD
Cytogenetic Map	7	q13	NCBI

PAH
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	102,836,889 - 102,958,441 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	102,836,889 - 102,958,410 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	103,230,667 - 103,352,219 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	101,756,234 - 101,835,511 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	101,734,570 - 101,813,848	NCBI
Celera	12	102,896,051 - 102,975,653 (-)	NCBI		Celera
Cytogenetic Map	12	q23.2	NCBI
HuRef	12	100,291,597 - 100,370,682 (-)	NCBI		HuRef
CHM1_1	12	103,199,004 - 103,278,175 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	102,797,868 - 102,919,265 (-)	NCBI		T2T-CHM13v2.0

Pah
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	87,357,657 - 87,419,999 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	87,357,657 - 87,419,998 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	87,521,795 - 87,584,137 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	87,521,795 - 87,584,136 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	86,984,540 - 87,046,882 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	86,951,768 - 87,013,930 (+)	NCBI		MGSCv36	mm8
Celera	10	89,475,828 - 89,562,695 (+)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	43.64	NCBI

Pah
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955405	37,846,354 - 37,909,457 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955405	37,848,486 - 37,909,163 (-)	NCBI	ChiLan1.0	ChiLan1.0

PAH
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	12	110,900,401 - 110,978,818 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	100,417,267 - 100,496,888 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	103,811,761 - 103,891,726 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	103,811,761 - 103,891,726 (-)	Ensembl	panpan1.1		panPan2

PAH
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	41,590,253 - 41,670,156 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	41,592,876 - 41,670,837 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	41,957,869 - 42,038,236 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	42,245,356 - 42,325,951 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	42,247,178 - 42,350,533 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	41,514,955 - 41,595,406 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	41,612,701 - 41,693,246 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	41,882,259 - 41,962,824 (-)	NCBI		UU_Cfam_GSD_1.0

Pah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	18,306,664 - 18,401,497 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	11,342,518 - 11,412,209 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936492	11,342,566 - 11,412,323 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PAH
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	81,385,435 - 81,463,451 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	81,385,401 - 81,460,569 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	85,200,848 - 85,228,826 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PAH
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	98,065,869 - 98,140,011 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	98,063,199 - 98,139,285 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	146,870,938 - 146,945,036 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pah
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624750	5,527,638 - 5,601,964 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624750	5,527,720 - 5,598,173 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in Pah
514 total Variants

miRNA Target Status

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 (mRatBN7.2)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2298550	Neuinf6	Neuroinflammation QTL 6	3.3		nervous system integrity trait (VT:0010566)	spinal cord RT1-B protein level (CMO:0002132)	7	1	27829089	Rat
7411566	Bw136	Body weight QTL 136	10.4	0.001	body mass (VT:0001259)	body weight gain (CMO:0000420)	7	1	31962314	Rat
9590142	Scort5	Serum corticosterone level QTL 5	24.4	0.001	blood corticosterone amount (VT:0005345)	plasma corticosterone level (CMO:0001173)	7	1	31962314	Rat
724560	Plsm3	Polydactyly-luxate syndrome (PLS) morphotypes QTL 3		0.0003	tibia length (VT:0004357)	tibia length (CMO:0000450)	7	1	34000259	Rat
2317047	Wbc4	White blood cell count QTL 4		0.01	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	7	1	35342956	Rat
61410	Bw19	Body weight QTL 19	6.2	0.001	body mass (VT:0001259)	body weight (CMO:0000012)	7	1	44782185	Rat
631503	Bp102	Blood pressure QTL 102	1.9		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	7	1	44822433	Rat
1300176	Hrtrt10	Heart rate QTL 10	3.19		heart pumping trait (VT:2000009)	heart rate (CMO:0000002)	7	664270	26029351	Rat
634336	Anxrr17	Anxiety related response QTL 17	3.66		locomotor behavior trait (VT:0001392)	number of entries into a discrete space in an experimental apparatus (CMO:0000960)	7	924703	115097879	Rat
10755438	Coatc9	Coat color QTL 9		0	coat/hair pigmentation trait (VT:0010463)	pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)	7	3529280	48529280	Rat
9590102	Sffal5	Serum free fatty acids level QTL 5	8.62	0.001	blood free fatty acid amount (VT:0001553)	plasma free fatty acids level (CMO:0000546)	7	5329019	50329019	Rat
10755440	Coatc10	Coat color QTL 10		0	coat/hair pigmentation trait (VT:0010463)	pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)	7	7496499	52496499	Rat
10059592	Kidm45	Kidney mass QTL 45	3.95	0.025	kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	7	7573985	52573985	Rat
2298547	Neuinf5	Neuroinflammation QTL 5	3.7		nervous system integrity trait (VT:0010566)	spinal cord Cd74 protein level (CMO:0002131)	7	9462246	58265113	Rat
1643004	Pain2	Pain QTL 2	1		mechanical nociception trait (VT:0002734)	self mutilation severity score (CMO:0002145)	7	9462246	98011544	Rat
1578652	Bmd15	Bone mineral density QTL 15	5.2		femur mineral mass (VT:0010011)	trabecular volumetric bone mineral density (CMO:0001729)	7	9866467	60460686	Rat
738033	Anxrr6	Anxiety related response QTL 6	4.1		exploratory behavior trait (VT:0010471)	percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)	7	15573889	60573889	Rat
1582260	Bw72	Body weight QTL 72	3.2	0.0043	body mass (VT:0001259)	body weight (CMO:0000012)	7	15795565	38073970	Rat
1582261	Bw69	Body weight QTL 69	3.2	0.0048	body mass (VT:0001259)	body weight (CMO:0000012)	7	15795565	38073970	Rat
1582262	Bw75	Body weight QTL 75	3	0.0038	body mass (VT:0001259)	body weight (CMO:0000012)	7	15795565	38073970	Rat
2317059	Aia15	Adjuvant induced arthritis QTL 15	2.46		joint integrity trait (VT:0010548)	right rear ankle joint diameter (CMO:0002150)	7	17004598	62004598	Rat
10755451	Coatc11	Coat color QTL 11		0	coat/hair pigmentation trait (VT:0010463)	pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)	7	17944357	62944357	Rat
70207	Niddm31	Non-insulin dependent diabetes mellitus QTL 31	3.9		blood glucose amount (VT:0000188)	plasma glucose level (CMO:0000042)	7	18169505	26029351	Rat
61369	Mcs2	Mammary carcinoma susceptibility QTL 2	3.38		mammary gland integrity trait (VT:0010552)	mammary tumor number (CMO:0000343)	7	19032807	35526300	Rat
1354637	Scl30	Serum cholesterol level QTL 30	3.7		blood cholesterol amount (VT:0000180)	blood total cholesterol level (CMO:0000051)	7	19654317	49753746	Rat
1354644	Spl4	Serum phospholipid level QTL 4	4.9		blood phospholipid amount (VT:0006084)	blood phospholipid level (CMO:0001169)	7	19654317	49753746	Rat
1354639	Spl5	Serum phospholipid level QTL 5	3.9		blood LDL phospholipid amount (VT:0010505)	blood low density lipoprotein phospholipid level (CMO:0001568)	7	19654317	52888450	Rat
1300132	Bp182	Blood pressure QTL 182	3.49		arterial blood pressure trait (VT:2000000)	blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)	7	19654317	84928080	Rat
2290372	Gluco33	Glucose level QTL 33	2.71		blood glucose amount (VT:0000188)	blood glucose level area under curve (AUC) (CMO:0000350)	7	20555705	29891047	Rat
7411569	Bw137	Body weight QTL 137		0.001	body mass (VT:0001259)	body weight gain (CMO:0000420)	7	21921195	66921195	Rat

Markers in Region

D7Rat225

Rat Assembly	Chr	Position (strand)	Source	JBrowse
RGSC_v3.4	7	24,202,793 - 24,202,995	RGD	RGSC3.4
RGSC_v3.4	7	24,202,794 - 24,202,995	UniSTS	RGSC3.4
RGSC_v3.1	7	24,223,064 - 24,223,266	RGD
FHH x ACI Map	7	5.9499	RGD
FHH x ACI Map	7	5.9499	UniSTS
Cytogenetic Map	7	q13	UniSTS

RH127306

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	7	21,997,836 - 21,998,049 (+)	MAPPER	mRatBN7.2
Rnor_6.0	7	28,129,475 - 28,129,687	NCBI	Rnor6.0
Rnor_5.0	7	28,245,131 - 28,245,343	UniSTS	Rnor5.0
RGSC_v3.4	7	24,243,295 - 24,243,507	UniSTS	RGSC3.4
Celera	7	19,167,962 - 19,168,174	UniSTS
RH 3.4 Map	7	120.2	UniSTS
Cytogenetic Map	7	q13	UniSTS

RH94480

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	7	21,997,931 - 21,998,095 (+)	MAPPER	mRatBN7.2
Rnor_6.0	7	28,129,570 - 28,129,733	NCBI	Rnor6.0
Rnor_5.0	7	28,245,226 - 28,245,389	UniSTS	Rnor5.0
RGSC_v3.4	7	24,243,390 - 24,243,553	UniSTS	RGSC3.4
Celera	7	19,168,057 - 19,168,220	UniSTS
RH 3.4 Map	7	119.56	UniSTS
Cytogenetic Map	7	q13	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

	alimentary part of gastrointestinal system	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	appendage
High			4	4		4
Medium			29	29		29				29	6	1
Low		6	24	8	16	8	7	7	45	2	13	7	7
Below cutoff	2	2			1		1	3	29	2	20	1	1

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_012619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008765215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_039078417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AJ276477	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC078881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH473960	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ218529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ218646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ219397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ219680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JACYVU010000185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	K02599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M12337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSRNOT00000005844 ⟹ ENSRNOP00000005844

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	7	21,933,179 - 21,998,128 (+)	Ensembl
Rnor_6.0 Ensembl	7	28,066,635 - 28,129,769 (+)	Ensembl

RefSeq Acc Id:

ENSRNOT00000100186 ⟹ ENSRNOP00000095431

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	7	21,933,179 - 21,998,128 (+)	Ensembl

RefSeq Acc Id:

ENSRNOT00000118112 ⟹ ENSRNOP00000085873

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	7	21,935,914 - 21,998,130 (+)	Ensembl

RefSeq Acc Id:

NM_012619 ⟹ NP_036751

RefSeq Status:

PROVISIONAL

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2	7	21,933,179 - 21,998,134 (+)	NCBI
Rnor_6.0	7	28,066,639 - 28,129,772 (+)	NCBI
Rnor_5.0	7	28,180,707 - 28,245,428 (+)	NCBI
RGSC_v3.4	7	24,175,898 - 24,243,592 (+)	RGD
Celera	7	19,108,301 - 19,168,259 (+)	RGD

Sequence:

show sequence

CAAGTTAAAACCATCAGCCCTCCCATCCTGAGTGCCTACCTTTCCCAACCCCGCTGCTAAGCTA
GACACCTCACTCACTGAGAGCCAGCATGGCAGCTGTTGTCCTGGAGAATGGAGTCCTGAGCAGA
AAACTCTCAGACTTTGGGCAGGAAACAAGCTATATTGAAGACAACTCCAATCAAAATGGTGCCA
TATCTCTGATATTCTCACTCAAAGAGGAAGTTGGTGCCCTAGCCAAGGTCCTGCGCTTATTTGA
GGAGAACGATATCAACCTGACACACATTGAATCCAGACCTTCTCGTTTAAACAAAGATGAGTAT
GAGTTCTTCACTTATCTGGATAAGCGTAGCAAACCTGTTCTGGGCAGCATCATCAAGAGCCTGA
GGAATGACATTGGTGCCACTGTCCACGAGCTTTCCCGAGACAAGGAAAAGAACACAGTGCCCTG
GTTCCCAAGGACCATTCAGGAGTTGGACCGATTCGCCAATCAGATTCTCAGCTATGGAGCCGAA
CTGGATGCGGACCACCCAGGCTTTAAAGATCCTGTGTACCGGGCGAGACGAAAGCAGTTTGCTG
ACATTGCCTACAACTACCGCCATGGCCAGCCCATCCCTCGGGTGGAATACACAGAGGAAGAGAA
GCAGACCTGGGGAACGGTGTTCAGGACCTTGAAGGCCTTGTATAAAACACATGCCTGCTACGAG
CACAACCACATTTTCCCACTTCTGGAAAAGTACTGCGGTTTCCGTGAAGACAACATTCCACAGC
TGGAAGATGTTTCTCAATTTCTGCAGACTTGTACTGGTTTCCGCCTCCGACCTGTTGCTGGCTT
ACTGTCATCTCGAGATTTCTTGGGTGGCCTGGCCTTCCGAGTCTTCCACTGCACACAGTACATT
AGGCATGGATCGAAGCCCATGTACACACCTGAACCTGACATCTGCCATGAACTCTTGGGACATG
TGCCTTTGTTTTCAGATCGCAGCTTTGCCCAGTTTTCTCAGGAAATTGGGCTTGCATCACTGGG
GGCACCTGATGAGTACATTGAGAAACTGGCCACAATTTACTGGTTTACTGTGGAGTTTGGGCTT
TGCAAGGAAGGAGATTCTATAAAGGCATATGGTGCTGGGCTCTTGTCATCCTTTGGAGAATTAC
AGTACTGTTTATCAGACAAGCCAAAGCTCCTCCCCCTGGAGCTAGAGAAGATAGCCTGCCAGGA
GTATTCTGTCACAGAGTTCCAGCCCTTGTACTACGTGGCGGAGAGTTTCAGTGATGCCAAGGAG
AAAGTGAGGACTTTTGCTGCCACGATCCCTCGGCCCTTCTCGGTTCGCTATGACCCTTACACTC
AAAGGGTTGAGGTCCTGGACAATACTCAGCAGTTGAAGATTTTAGCTGACTCCATTAATAGTGA
GGTCGGAATCCTTTGCAATGCCCTGCAGAAGATAAAGTCGTGAGCAGAAAATGACGTCATGGGC
AGAACTTAGGAGGTCAACCAGAAATCGGTCGATAGAAGTATAGTAACTGCCTTTGTTCCCCTGA
AGAAAAAAAGTTTTATTTGAAACGTCAGCTTTTATTATTTTTGCTAACACAGTGGAGCATCACC
AAATAAATCAAAGTTCTCTGAAATGAAAGTGTGTTAAAACCCTCCAGGGGTAGATCTTTCAGAA
TCACATTTGATTTAGATAATCTCATAGCTTCAATTTGGTTTAAAATGTAATTTTCTCAGCTCTC
ATCAACATTCATCAAATTTGGGGCTTGTGTCATTGGGGCTTCATCCGTTCATTTTTAACCTCTC
AGGTAAGCTCTGAAGGAACACATTTGGCTGAGTGTAAAATGTAAGACTGCCATCAGGGATGAAT
CATTCCGTTCAGTACAGATTGTAATCTACAAAGGGTAGTTTTCACCTTCGTTCATTATGGCTCT
GAGAACTGCTTTGTTAGCCTGCTTACATAAATCTCCCCTGATCGGAGACCCTATTAAGATAGTT
ACAAGCAATAAAGTTTTAGAGCATTATATAAAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_039078417 ⟹ XP_038934345

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2	7	21,956,566 - 21,998,134 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_036751	(Get FASTA)	NCBI Sequence Viewer
	XP_038934345	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA41794	(Get FASTA)	NCBI Sequence Viewer
	AAA41843	(Get FASTA)	NCBI Sequence Viewer
	AAH78881	(Get FASTA)	NCBI Sequence Viewer
	CAC12962	(Get FASTA)	NCBI Sequence Viewer
	EDM17035	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSRNOP00000005844
	ENSRNOP00000005844.4
	ENSRNOP00000085873.1
	ENSRNOP00000095431.1
GenBank Protein	P04176	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_036751 ⟸ NM_012619

- UniProtKB:

P04176 (UniProtKB/Swiss-Prot), Q6AYW2 (UniProtKB/TrEMBL), F7FDL3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAAVVLENGVLSRKLSDFGQETSYIEDNSNQNGAISLIFSLKEEVGALAKVLRLFEENDINLTH
IESRPSRLNKDEYEFFTYLDKRSKPVLGSIIKSLRNDIGATVHELSRDKEKNTVPWFPRTIQEL
DRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYTEEEKQTWGTVFR
TLKALYKTHACYEHNHIFPLLEKYCGFREDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLG
GLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKEGDSIKAYGAGLLSSFGELQYCLSDKPKLLPLELEKIACQEYSVTEFQP
LYYVAESFSDAKEKVRTFAATIPRPFSVRYDPYTQRVEVLDNTQQLKILADSINSEVGILCNAL
QKIKS

hide sequence

RefSeq Acc Id:

ENSRNOP00000005844 ⟸ ENSRNOT00000005844

RefSeq Acc Id:	XP_038934345 ⟸ XM_039078417
- Peptide Label:	isoform X1

RefSeq Acc Id:

ENSRNOP00000095431 ⟸ ENSRNOT00000100186

RefSeq Acc Id:

ENSRNOP00000085873 ⟸ ENSRNOT00000118112

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 Assembly	Chr	Position (strand)	Source
Rnor_6.0	7	28,066,609 - 28,066,669	EPDNEW

Additional Information

External Database Links

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
Ensembl Genes	ENSRNOG00000004302	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSRNOT00000005844	ENTREZGENE
	ENSRNOT00000005844.8	UniProtKB/TrEMBL
	ENSRNOT00000100186.1	UniProtKB/TrEMBL
	ENSRNOT00000118112.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.800.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE	IMAGE:7131414	IMAGE-MGC_LOAD
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	rno:24616	UniProtKB/TrEMBL
MGC_CLONE	MGC:93567	IMAGE-MGC_LOAD
NCBI Gene	24616	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
RatGTEx	ENSRNOG00000004302	RatGTEx
Superfamily-SCOP	SSF55021	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF56534	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A8I6A4T0_RAT	UniProtKB/TrEMBL
	A0A8I6ANH3_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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)