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; L-tyrosine catabolic process; and homogentisate catabolic process. Predicted to act upstream of or within L-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
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Fahem3Mcwi ; Fahem15Dlli-/- ; Fahem10Dlli-/-
Genetic Models: SD-Fahem3Mcwi ; SD-Fahem3McwiIl2rgem2McwiRag1em6Mcwi ; SD-Fahem15Dlli-/- ; SD-Fahem10Dlli-/-
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81147,957,931 - 147,980,708 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1147,957,935 - 147,981,046 (-)EnsemblGRCr8
mRatBN7.21138,548,830 - 138,571,599 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1138,548,834 - 138,571,505 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1146,501,260 - 146,524,074 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01153,670,263 - 153,693,077 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01146,545,471 - 146,568,281 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01146,713,663 - 146,736,339 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1146,713,676 - 146,736,261 (-)Ensemblrn6Rnor6.0
Rnor_5.01147,640,316 - 147,662,920 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41140,851,975 - 140,876,187 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1130,566,888 - 130,589,532 (-)NCBICelera
RGSC_v3.11140,930,382 - 140,954,593 (-)NCBI
Cytogenetic Map1q31NCBI
JBrowse:




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)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (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)
alpha-Zearalanol  (EXP)
amitrole  (EXP)
ammonium chloride  (EXP)
amphetamine  (ISO)
arotinoid acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (ISO)
benzoates  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
bromobenzene  (EXP)
Bufotalin  (ISO)
Butylbenzyl phthalate  (ISO)
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)
DDE  (ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (EXP,ISO)
diethyl maleate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dorsomorphin  (ISO)
endosulfan  (EXP)
epoxiconazole  (ISO)
ethylisopropylamiloride  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
flutamide  (EXP)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (EXP)
GSK-J4  (ISO)
indometacin  (ISO)
ivermectin  (ISO)
L-ascorbic acid  (ISO)
L-ascorbic acid 2-phosphate  (ISO)
lead diacetate  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
methamphetamine  (EXP)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methimazole  (EXP)
methylmercury chloride  (ISO)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodimethylamine  (ISO)
nicotine  (ISO)
nitrofen  (EXP)
okadaic acid  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
pyrogallol  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rotenone  (EXP)
SB 431542  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
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)
triphenyl phosphate  (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

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 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1147,957,935 - 147,981,046 (-)EnsemblGRCr8
mRatBN7.21138,548,830 - 138,571,599 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1138,548,834 - 138,571,505 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1146,501,260 - 146,524,074 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01153,670,263 - 153,693,077 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01146,545,471 - 146,568,281 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01146,713,663 - 146,736,339 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1146,713,676 - 146,736,261 (-)Ensemblrn6Rnor6.0
Rnor_5.01147,640,316 - 147,662,920 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41140,851,975 - 140,876,187 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1130,566,888 - 130,589,532 (-)NCBICelera
RGSC_v3.11140,930,382 - 140,954,593 (-)NCBI
Cytogenetic Map1q31NCBI
FAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381580,152,789 - 80,186,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1580,152,292 - 80,186,990 (+)Ensemblhg38GRCh38
GRCh371580,445,131 - 80,479,291 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361578,232,396 - 78,265,737 (+)NCBIBuild 36Build 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 EnsemblGRCm39
GRCm38784,585,159 - 84,605,942 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl784,585,159 - 84,606,722 (-)Ensemblmm10GRCm38
MGSCv37791,733,669 - 91,754,452 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
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 (+)Ensembl
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 (+)EnsemblpanPan2panpan1.1
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 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha359,958,877 - 59,985,019 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0357,726,930 - 57,753,060 (-)NCBIROS_Cfam_1.0ROS_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_1.0UU_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 (+)EnsemblSpeTri2.0 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 (+)EnsemblsusScr11Sscrofa11.1
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 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
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_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046249411,039,389 - 1,056,568 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Fah
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v12115,766,092 - 115,788,580 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Fah
258 total Variants
miRNA Target Status (No longer updated)

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 (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
61442Strs1Sensitivity to stroke QTL 17.4cerebrum integrity trait (VT:0010549)post-insult time to onset of cerebrovascular lesion (CMO:0002343)1131179947176179947Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)1137611478182611478Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)151940904168768703Rat
1598866Bp287Blood pressure QTL 2875.1arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1130419227175419227Rat
1578770Stresp23Stress response QTL 23kidney sympathetic nerve activity (VT:0004050)stimulated renal sympathetic nerve activity to basal renal sympathetic nerve activity ratio (CMO:0001786)1132760429191848948Rat
631684Bp117Blood pressure QTL 1178.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1120082258165082258Rat
9590300Scort16Serum corticosterone level QTL 164.390.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1112521556157521556Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)166009857160501508Rat
631199Cm23Cardiac mass QTL 234.60.0004heart left ventricle mass (VT:0007031)heart left ventricle wet weight (CMO:0000071)1142582336182383862Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)151511344153680016Rat
1598850Bp297Blood pressure QTL 2972.1arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1130419227175419227Rat
631570Bp94Blood pressure QTL 940.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1132889797152403053Rat
152025235Bw194Body weight QTL 1944.86body mass (VT:0001259)1132966869252856240Rat
61341Bp26Blood pressure QTL 26arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1139442053223964440Rat
152025232Bw192Body weight QTL 1923.93body mass (VT:0001259)1127329268206393015Rat
724521Uae1Urinary albumin excretion QTL 13.80.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)199645382182701046Rat
1358902Bw47Body weight QTL 471.67body mass (VT:0001259)body weight (CMO:0000012)199645382221502378Rat
61346Rf2Renal disease susceptibility QTL 23.7urine protein amount (VT:0005160)urine protein level (CMO:0000591)1142582180153680016Rat
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)1109493780193400781Rat
2317833Alcrsp19Alcohol response QTL 1912.40.001response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)1110389869155389869Rat
1300153Bp171Blood pressure QTL 1713.37arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1124975316152612788Rat
7771612Cm80Cardiac mass QTL 808.4heart left ventricle mass (VT:0007031)heart left ventricle weight (CMO:0000776)1146080545243492863Rat
731168Bp154Blood pressure QTL 1543.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1103779152223964440Rat
631202Gluco13Glucose level QTL 130.0001blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1141173126169168317Rat
631205Bp196Blood pressure QTL 19640.0001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)198879955208479939Rat
631206Niddm40Non-insulin dependent diabetes mellitus QTL 40blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)1140833106185833106Rat
1641897Alcrsp1Alcohol response QTL 1response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)1110389869155389869Rat
1331751Bp199Blood pressure QTL 1993.60022arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1116099376191260518Rat
2293140Bp313Blood pressure QTL 313arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1131243790176243790Rat
724529Cm16Cardiac mass QTL 162.7heart mass (VT:0007028)calculated heart weight (CMO:0000073)196717367160111531Rat
737974Bp161Blood pressure QTL 1610.002arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1129182274174182274Rat
1641895Bp298Blood pressure QTL 298arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1132760429191848948Rat
631496Bp97Blood pressure QTL 973.08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1115183611176289080Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)151941022208479811Rat
1331793Bp200Blood pressure QTL 2003.71601arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1102780511182384005Rat
6893347Bw98Body weight QTL 980.20.53body mass (VT:0001259)body weight (CMO:0000012)1143092939188092939Rat
1354591Cm36Cardiac mass QTL 364.1heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1111949780210707719Rat
7421630Bp362Blood pressure QTL 3620.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1128019551173019551Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)134184556172281316Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)134565911208798288Rat
631519Pia11Pristane induced arthritis QTL 115.3joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)193903998191260518Rat
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)1108680016153680016Rat
6893361Bw104Body weight QTL 1040.590.27body mass (VT:0001259)body weight (CMO:0000012)1143092939188092939Rat
724562Rends1Renal damage susceptibility QTL 10.05kidney glomerulus integrity trait (VT:0010546)index of glomerular damage (CMO:0001135)1139442053223964440Rat
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)1102359314153680016Rat
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)1140048073185048073Rat
1558645Bw55Body weight QTL 553.20.004body mass (VT:0001259)body weight (CMO:0000012)1143092939188092939Rat
1354615Cm32Cardiac mass QTL 325.2heart left ventricle mass (VT:0007031)heart left ventricle wet weight (CMO:0000071)1111949780210707719Rat
634348Bp138Blood pressure QTL 138arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1135021436178317588Rat
8694370Bw154Body weight QTL 1548.910.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)1112521556157521556Rat
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)1140048073185048073Rat
1354623Rf46Renal function QTL 463.8blood creatinine amount (VT:0005328)plasma creatinine level (CMO:0000537)1111949780160574007Rat
631654Bp107Blood pressure QTL 107arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1135021436180021436Rat
631544Bp84Blood pressure QTL 845.6arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1132760429191190115Rat
152025212Bw190Body weight QTL 1905.7body mass (VT:0001259)1132966869206393015Rat
631549Bp89Blood pressure QTL 895.7arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1132760429152404087Rat
631548Bp88Blood pressure QTL 8850.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1140915717185915717Rat
1358189Cstrr1Cold stress response QTL 10.0001catecholamine amount (VT:0010543)urine norepinephrine level (CMO:0001629)1132760429191848948Rat
1354606Bp246Blood pressure QTL 2463.6arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)1111949780228180370Rat

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:
SD-Fahem3Mcwi     SD-Fahem3McwiIl2rgem2McwiRag1em6Mcwi     SD-Fahem15Dlli-/-     SD-Fahem10Dlli-/-    


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
16 12 67 164 91 90 59 92 59 6 356 192 11 143 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000068167   ⟹   ENSRNOP00000061132
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl1147,957,935 - 147,981,046 (-)Ensembl
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
Protein Sequences
Protein RefSeqs NP_058877 (Get FASTA)   NCBI Sequence Viewer  
  XP_038964739 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA41142 (Get FASTA)   NCBI Sequence Viewer  
  AAH76381 (Get FASTA)   NCBI Sequence Viewer  
  EDM08767 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000061132
  ENSRNOP00000061132.4
GenBank Protein P25093 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_058877   ⟸   NM_017181
- UniProtKB: P25093 (UniProtKB/Swiss-Prot),   A6JCP0 (UniProtKB/TrEMBL),   F1M6W1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000061132   ⟸   ENSRNOT00000068167
RefSeq Acc Id: XP_038964739   ⟸   XM_039108811
- Peptide Label: isoform X1
- UniProtKB: F1M6W1 (UniProtKB/TrEMBL)
Protein Domains
Fumarylacetoacetase N-terminal   Fumarylacetoacetase-like C-terminal

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
Ensembl Transcript ENSRNOT00000068167 ENTREZGENE
  ENSRNOT00000068167.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.230 UniProtKB/Swiss-Prot
  3.90.850.10 UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:7108528 IMAGE-MGC_LOAD
InterPro Fumarylacetoacetase UniProtKB/Swiss-Prot
  Fumarylacetoacetase-like_C UniProtKB/Swiss-Prot
  Fumarylacetoacetase_C_sf UniProtKB/Swiss-Prot
  Fumarylacetoacetase_N UniProtKB/Swiss-Prot
  Fumarylacetoacetase_N_sf UniProtKB/Swiss-Prot
KEGG Report rno:29383 UniProtKB/Swiss-Prot
MGC_CLONE MGC:93536 IMAGE-MGC_LOAD
NCBI Gene 29383 ENTREZGENE
PANTHER FUMARYLACETOACETASE UniProtKB/Swiss-Prot
  PTHR43069 UniProtKB/Swiss-Prot
Pfam FAA_hydrolase UniProtKB/Swiss-Prot
  FAA_hydrolase_N UniProtKB/Swiss-Prot
PhenoGen Fah PhenoGen
RatGTEx ENSRNOG00000013223 RatGTEx
Superfamily-SCOP SSF56529 UniProtKB/Swiss-Prot
  SSF63433 UniProtKB/Swiss-Prot
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