Fah (fumarylacetoacetate hydrolase) - Rat Genome Database

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Gene: Fah (fumarylacetoacetate hydrolase) Rattus norvegicus
Analyze
Symbol: Fah
Name: fumarylacetoacetate hydrolase
RGD ID: 61932
Description: Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Used to study liver cirrhosis and tyrosinemia type I. Biomarker of hypertension. Human ortholog(s) of this gene implicated in tyrosinemia type I. Orthologous to human FAH (fumarylacetoacetate hydrolase); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydroxylase deficiency pathway; INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: beta-diketonase; FAA; fumarylacetoacetase
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: Fahem3Mcwi   Fahem15Dlli-/-   Fahem10Dlli-/-  
Genetic Models: SD-Fahem3Mcwi SD-Fahem15Dlli-/- SD-Fahem10Dlli-/-
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81147,957,931 - 147,980,708 (-)NCBIGRCr8
mRatBN7.21138,548,830 - 138,571,599 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1138,548,834 - 138,571,505 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1146,501,260 - 146,524,074 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01153,670,263 - 153,693,077 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01146,545,471 - 146,568,281 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01146,713,663 - 146,736,339 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1146,713,676 - 146,736,261 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01147,640,316 - 147,662,920 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41140,851,975 - 140,876,187 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11140,930,382 - 140,954,593 (-)NCBI
Celera1130,566,888 - 130,589,532 (-)NCBICelera
Cytogenetic Map1q31NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (EXP)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (EXP)
2-methoxyethanol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
acetamide  (EXP)
acrolein  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (ISO)
amitrole  (EXP)
ammonium chloride  (EXP)
amphetamine  (ISO)
arotinoid acid  (ISO)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (ISO)
benzoates  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
bromobenzene  (EXP)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
CGP 52608  (ISO)
CHIR 99021  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (EXP,ISO)
cobalt dichloride  (EXP)
cortisol  (ISO)
coumestrol  (ISO)
Cuprizon  (EXP)
cyclosporin A  (ISO)
cyproconazole  (ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (EXP)
diethyl maleate  (ISO)
dorsomorphin  (ISO)
endosulfan  (EXP)
epoxiconazole  (ISO)
ethylisopropylamiloride  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
flutamide  (EXP)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (EXP)
indometacin  (ISO)
ivermectin  (ISO)
L-ascorbic acid  (ISO)
L-ascorbic acid 2-phosphate  (ISO)
lead diacetate  (EXP)
methamphetamine  (EXP)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methimazole  (EXP)
methylmercury chloride  (ISO)
mifepristone  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodimethylamine  (ISO)
nicotine  (ISO)
nitrofen  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
pyrogallol  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rotenone  (EXP)
SB 431542  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (EXP,ISO)
sodium dodecyl sulfate  (ISO)
sulfadimethoxine  (EXP)
tauroursodeoxycholic acid  (EXP)
temozolomide  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (EXP,ISO)
tetrahydropalmatine  (ISO)
thimerosal  (ISO)
thioacetamide  (EXP)
titanium dioxide  (ISO)
triadimefon  (EXP)
trichostatin A  (ISO)
triclosan  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
troglitazone  (EXP)
urethane  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vorinostat  (ISO)
XAV939  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. Aponte JL, etal., Proc Natl Acad Sci U S A 2001 Jan 16;98(2):641-5.
2. Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. Blackburn PR, etal., Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8.
3. Dendrimer-Based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to Normalize Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I. Cheng Q, etal., Adv Mater. 2018 Dec;30(52):e1805308. doi: 10.1002/adma.201805308. Epub 2018 Oct 25.
4. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. Endo F, etal., J Biol Chem 1997 Sep 26;272(39):24426-32.
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. Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Grompe M, etal., Nat Genet 1995 Aug;10(4):453-60.
8. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
9. Cloning and expression analysis of a cDNA encoding fumarylacetoacetate hydrolase: post-transcriptional modulation in rat liver and kidney. Labelle Y, etal., Gene 1991 Aug 15;104(2):197-202.
10. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
11. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
12. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
16. GOA pipeline RGD automated data pipeline
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. Comprehensive gene review and curation RGD comprehensive gene curation
20. Cas9-nickase-mediated genome editing corrects hereditary tyrosinemia in rats. Shao Y, etal., J Biol Chem. 2018 May 4;293(18):6883-6892. doi: 10.1074/jbc.RA117.000347. Epub 2018 Mar 5.
21. 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.
22. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
23. Identification of hypertension-related genes through an integrated genomic-transcriptomic approach. Yagil C, etal., Circ Res. 2005 Apr 1;96(6):617-25. Epub 2005 Feb 24.
24. Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. Zhang L, etal., Sci Rep. 2016 Aug 11;6:31460. doi: 10.1038/srep31460.
Additional References at PubMed
PMID:8364576   PMID:15489334   PMID:19056867   PMID:23376485   PMID:23533145   PMID:25677510  


Genomics

Comparative Map Data
Fah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81147,957,931 - 147,980,708 (-)NCBIGRCr8
mRatBN7.21138,548,830 - 138,571,599 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1138,548,834 - 138,571,505 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1146,501,260 - 146,524,074 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01153,670,263 - 153,693,077 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01146,545,471 - 146,568,281 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01146,713,663 - 146,736,339 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1146,713,676 - 146,736,261 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01147,640,316 - 147,662,920 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41140,851,975 - 140,876,187 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11140,930,382 - 140,954,593 (-)NCBI
Celera1130,566,888 - 130,589,532 (-)NCBICelera
Cytogenetic Map1q31NCBI
FAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381580,152,789 - 80,186,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1580,152,490 - 80,186,946 (+)EnsemblGRCh38hg38GRCh38
GRCh371580,445,131 - 80,479,291 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361578,232,396 - 78,265,737 (+)NCBINCBI36Build 36hg18NCBI36
Build 341578,232,395 - 78,265,737NCBI
Celera1557,382,789 - 57,416,130 (+)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1557,208,400 - 57,236,922 (+)NCBIHuRef
CHM1_11580,563,191 - 80,596,880 (+)NCBICHM1_1
T2T-CHM13v2.01578,016,209 - 78,050,378 (+)NCBIT2T-CHM13v2.0
Fah
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39784,234,367 - 84,255,150 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl784,234,367 - 84,255,930 (-)EnsemblGRCm39 Ensembl
GRCm38784,585,159 - 84,605,942 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl784,585,159 - 84,606,722 (-)EnsemblGRCm38mm10GRCm38
MGSCv37791,733,669 - 91,754,452 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36784,461,355 - 84,481,937 (-)NCBIMGSCv36mm8
Celera781,987,620 - 82,008,470 (-)NCBICelera
Cytogenetic Map7D3NCBI
cM Map748.36NCBI
Fah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955533904,295 - 921,730 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955533904,294 - 921,730 (+)NCBIChiLan1.0ChiLan1.0
FAH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21669,406,972 - 69,440,591 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11573,571,710 - 73,605,514 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01559,121,657 - 59,155,229 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11578,081,523 - 78,115,169 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1578,048,571 - 78,115,098 (+)Ensemblpanpan1.1panPan2
FAH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1357,300,422 - 57,326,546 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl357,300,441 - 57,326,486 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha359,958,877 - 59,985,019 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0357,726,930 - 57,753,060 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl357,702,957 - 57,753,270 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1357,232,805 - 57,258,945 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0357,439,515 - 57,465,634 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0357,786,369 - 57,812,502 (-)NCBIUU_Cfam_GSD_1.0
Fah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640120,292,223 - 120,326,410 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647138,140,273 - 38,174,702 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647138,140,324 - 38,174,472 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl749,047,902 - 49,087,783 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1749,047,833 - 49,087,790 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2754,556,153 - 54,596,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1263,223,327 - 3,259,367 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl263,223,079 - 3,258,657 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048138,616,632 - 138,652,526 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fah
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249411,039,429 - 1,056,568 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249411,039,389 - 1,056,568 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Fah
103 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:29
Count of miRNA genes:27
Interacting mature miRNAs:29
Transcripts:ENSRNOT00000068167
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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132356093162846471Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132737458199368955Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)148963584144267916Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)149393172159356837Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)149393289199050459Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)157336763151090257Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
724529Cm16Cardiac mass QTL 162.7heart mass (VT:0007028)calculated heart weight (CMO:0000073)187580395150700247Rat
724521Uae1Urinary albumin excretion QTL 13.80.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)190508614173018436Rat
1358902Bw47Body weight QTL 471.67body mass (VT:0001259)body weight (CMO:0000012)190508614180359386Rat
1300153Bp171Blood pressure QTL 1713.37arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)190664883143200202Rat
724567Tcas6Tongue tumor susceptibility QTL 66.85tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)192948896144267916Rat
1331793Bp200Blood pressure QTL 2003.71601arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194494440172949803Rat
1331751Bp199Blood pressure QTL 1993.60022arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)194494440181830018Rat
1331749Hrtrt11Heart rate QTL 112.973heart pumping trait (VT:2000009)heart rate (CMO:0000002)194494440198211706Rat
70209Niddm23Non-insulin dependent diabetes mellitus QTL 232.82blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)194494440198324465Rat
731168Bp154Blood pressure QTL 1543.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194642644214537671Rat
61346Rf2Renal disease susceptibility QTL 23.7urine protein amount (VT:0005160)urine protein level (CMO:0000591)199267916144267916Rat
61399Tcat1Tongue tumor resistance QTL 13.3tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 5 mm (CMO:0001879)199267916144267916Rat
8655649Arrd1Age-related retinal degeneration QTL 14.89retinal layer morphology trait (VT:0003727)percentage of study population developing retinopathy during a period of time (CMO:0002453)1100357752183970443Rat
2317833Alcrsp19Alcohol response QTL 1912.40.001response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)1100979852145979852Rat
1641897Alcrsp1Alcohol response QTL 1response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)1100979852145979852Rat
2303591Gluco41Glucose level QTL 412blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1102168504147168504Rat
61370Mcs3Mammary carcinoma susceptibility QTL 32.15mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1102268556147268556Rat
1354623Rf46Renal function QTL 463.8blood creatinine amount (VT:0005328)plasma creatinine level (CMO:0000537)1102813953151162766Rat
1354591Cm36Cardiac mass QTL 364.1heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1102813953201278233Rat
1354615Cm32Cardiac mass QTL 325.2heart left ventricle mass (VT:0007031)heart left ventricle wet weight (CMO:0000071)1102813953201278233Rat
1354606Bp246Blood pressure QTL 2463.6arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)1102813953218753816Rat
9590300Scort16Serum corticosterone level QTL 164.390.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1103111621148111621Rat
8694370Bw154Body weight QTL 1548.910.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)1103111621148111621Rat
631496Bp97Blood pressure QTL 973.08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1106047847151047847Rat
1300158Bp173Blood pressure QTL 1733.48arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)1115540693185145286Rat
7794788Mcs32Mammary carcinoma susceptibility QTL 322.61mammary gland integrity trait (VT:0010552)mammary tumor incidence/prevalence measurement (CMO:0000946)1115540693238914717Rat
631199Cm23Cardiac mass QTL 234.60.0004heart left ventricle mass (VT:0007031)heart left ventricle wet weight (CMO:0000071)1115585465172949803Rat
7421630Bp362Blood pressure QTL 3620.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1118608292241799120Rat
2313060Bss71Bone structure and strength QTL 712.60.0001long bone metaphysis morphology trait (VT:0000133)tibia midshaft total cross-sectional area (CMO:0001715)1118944747163944747Rat
631205Bp196Blood pressure QTL 19640.0001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1118944897199050459Rat
1598850Bp297Blood pressure QTL 2972.1arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1121006655166006655Rat
1598866Bp287Blood pressure QTL 2875.1arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1121006655166006655Rat
61442Strs1Sensitivity to stroke QTL 17.4cerebrum integrity trait (VT:0010549)post-insult time to onset of cerebrovascular lesion (CMO:0002343)1121767634166767634Rat
2293140Bp313Blood pressure QTL 313arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1121833674166833674Rat
631544Bp84Blood pressure QTL 845.6arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1123350408181759564Rat
1358189Cstrr1Cold stress response QTL 10.0001catecholamine amount (VT:0010543)urine norepinephrine level (CMO:0001629)1123350408182418476Rat
1641895Bp298Blood pressure QTL 298arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1123350408182418476Rat
1578770Stresp23Stress response QTL 23kidney sympathetic nerve activity (VT:0004050)stimulated renal sympathetic nerve activity to basal renal sympathetic nerve activity ratio (CMO:0001786)1123350408182418476Rat
631549Bp89Blood pressure QTL 895.7arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1123350581201284552Rat
631570Bp94Blood pressure QTL 940.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1123479780142990467Rat
634348Bp138Blood pressure QTL 138arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1125611501168883176Rat
9685799Bp375Blood pressure QTL 375arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1125611501170611501Rat
631654Bp107Blood pressure QTL 107arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1125611501170611501Rat
9685802Bp376Blood pressure QTL 376arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1126540680171540680Rat
738006Anxrr14Anxiety related response QTL 1440.00035locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)1130636910175636910Rat
738028Anxrr12Anxiety related response QTL 124.90.00001locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)1130636910175636910Rat
631202Gluco13Glucose level QTL 130.0001blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1131763437159756369Rat
6893347Bw98Body weight QTL 980.20.53body mass (VT:0001259)body weight (CMO:0000012)1133680936178680936Rat
6893361Bw104Body weight QTL 1040.590.27body mass (VT:0001259)body weight (CMO:0000012)1133680936178680936Rat
1558645Bw55Body weight QTL 553.20.004body mass (VT:0001259)body weight (CMO:0000012)1133680936178680936Rat
631206Niddm40Non-insulin dependent diabetes mellitus QTL 40blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)1136745990163747690Rat
71118Thym1Thymus enlargement QTL 110.170.001thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)1136829932181829932Rat
724550Thym3Thymus enlargement QTL 37.820.001thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)1136829932181829932Rat
631519Pia11Pristane induced arthritis QTL 115.3joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1136830018181830018Rat

Markers in Region
BM390454  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21138,548,904 - 138,549,114 (+)MAPPERmRatBN7.2
Rnor_6.01146,713,738 - 146,713,947NCBIRnor6.0
Rnor_5.01147,640,391 - 147,640,600UniSTSRnor5.0
RGSC_v3.41140,852,050 - 140,852,259UniSTSRGSC3.4
Celera1130,566,963 - 130,567,172UniSTS
RH 3.4 Map11108.1UniSTS
Cytogenetic Map1q31UniSTS


Genetic Models
This gene Fah is modified in the following models/strains:


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
Medium 3 10 53 41 10 41 26 31 34 11
Low 33 4 9 8 11 48 4 7 8
Below cutoff

Sequence


RefSeq Acc Id: ENSRNOT00000068167   ⟹   ENSRNOP00000061132
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1138,548,834 - 138,571,505 (-)Ensembl
Rnor_6.0 Ensembl1146,713,676 - 146,736,261 (-)Ensembl
RefSeq Acc Id: NM_017181   ⟹   NP_058877
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81147,957,931 - 147,980,605 (-)NCBI
mRatBN7.21138,548,830 - 138,571,505 (-)NCBI
Rnor_6.01146,713,663 - 146,736,339 (-)NCBI
Rnor_5.01147,640,316 - 147,662,920 (-)NCBI
RGSC_v3.41140,851,975 - 140,876,187 (-)RGD
Celera1130,566,888 - 130,589,532 (-)RGD
Sequence:
RefSeq Acc Id: XM_039108811   ⟹   XP_038964739
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81147,957,931 - 147,980,708 (-)NCBI
mRatBN7.21138,548,830 - 138,571,599 (-)NCBI
RefSeq Acc Id: NP_058877   ⟸   NM_017181
- UniProtKB: P25093 (UniProtKB/Swiss-Prot),   A6JCP0 (UniProtKB/TrEMBL),   F1M6W1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000061132   ⟸   ENSRNOT00000068167
RefSeq Acc Id: XP_038964739   ⟸   XM_039108811
- Peptide Label: isoform X1
- UniProtKB: F1M6W1 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25093-F1-model_v2 AlphaFold P25093 1-419 view protein structure

Transcriptome

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

Promoters
RGD ID:13690170
Promoter ID:EPDNEW_R694
Type:initiation region
Name:Fah_1
Description:fumarylacetoacetate hydrolase
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_6.01146,736,306 - 146,736,366EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:61932 AgrOrtholog
BioCyc Gene G2FUF-58649 BioCyc
BioCyc Pathway TYRFUMCAT-PWY [L-tyrosine degradation I] BioCyc
BioCyc Pathway Image TYRFUMCAT-PWY BioCyc
Ensembl Genes ENSRNOG00000013223 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSRNOG00055019112 UniProtKB/Swiss-Prot
  ENSRNOG00060018221 UniProtKB/Swiss-Prot
  ENSRNOG00065028314 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000068167 ENTREZGENE, UniProtKB/TrEMBL
  ENSRNOT00000068167.4 UniProtKB/Swiss-Prot
  ENSRNOT00055032589 UniProtKB/Swiss-Prot
  ENSRNOT00060031271 UniProtKB/Swiss-Prot
  ENSRNOT00065048767 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7108528 IMAGE-MGC_LOAD
InterPro Fumarylacetoacetase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:29383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGC_CLONE MGC:93536 IMAGE-MGC_LOAD
NCBI Gene 29383 ENTREZGENE
PANTHER FUMARYLACETOACETASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAA_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAA_hydrolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Fah PhenoGen
RatGTEx ENSRNOG00000013223 RatGTEx
  ENSRNOG00055019112 RatGTEx
  ENSRNOG00060018221 RatGTEx
  ENSRNOG00065028314 RatGTEx
Superfamily-SCOP SSF56529 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63433 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGR TC219968
UniProt A6JCP0 ENTREZGENE, UniProtKB/TrEMBL
  F1M6W1 ENTREZGENE, UniProtKB/TrEMBL
  FAAA_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2002-06-10 Fah  fumarylacetoacetate hydrolase      Name updated 70584 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_disease identified as a possible hypertension gene 1559295
gene_expression mRNA expression is higher in liver than in kidneys 61580
gene_protein cDNA codes a 419 aa, 45,946 kDa protein 61580
gene_regulation post-transcriptionally regulated in liver and kidneys 61580