FAH (fumarylacetoacetate hydrolase) - Rat Genome Database

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Gene: FAH (fumarylacetoacetate hydrolase) Chlorocebus sabaeus
Analyze
Symbol: FAH
Name: fumarylacetoacetate hydrolase
RGD ID: 18659795
Description: ENCODES a protein that exhibits catalytic activity (inferred); fumarylacetoacetase activity (inferred); hydrolase activity (inferred); INVOLVED IN arginine catabolic process (inferred); aromatic amino acid metabolic process (inferred); homogentisate catabolic process (inferred); PARTICIPATES IN alkaptonuria pathway; disulfiram pharmacodynamics pathway; dopamine beta-hydroxylase deficiency pathway; ASSOCIATED WITH beta-mannosidosis (ortholog); Bloom syndrome (ortholog); colorectal cancer (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: fumarylacetoacetase
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChlSab1.1 - Green Monkey 1.1 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
FAHGreen MonkeyCOVID-19  ISOFAH (Homo sapiens)9068941mRNA:increased expression:peripheral blood mononuclear cell (human)RGDPMID:32228226 and REF_RGD_ID:28912744
FAHGreen Monkeyhypertension  ISOFah (Rattus norvegicus)9068941mRNA:decreased expression:kidneyRGDPMID:15731461 and REF_RGD_ID:1559295
FAHGreen Monkeyliver cirrhosis  ISOFah (Rattus norvegicus)9068941 RGDPMID:27510266 and REF_RGD_ID:14398823
FAHGreen Monkeyliver disease  ISOFah (Mus musculus)9068941 RGDPMID:7545495 and REF_RGD_ID:737742
FAHGreen MonkeyLiver Failure  ISOFah (Rattus norvegicus)9068941 RGDPMID:27510266 and REF_RGD_ID:14398823
FAHGreen Monkeytyrosinemia type I treatmentISOFah (Mus musculus)9068941 RGDPMID:30368954 and REF_RGD_ID:14401588
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
FAHGreen Monkeybeta-mannosidosis  ISOFAH (Homo sapiens)8554872ClinVar Annotator: match by term: Beta-D-mannosidosisClinVarPMID:25741868
FAHGreen MonkeyBloom syndrome  ISOFAH (Homo sapiens)8554872ClinVar Annotator: match by term: Bloom syndromeClinVarPMID:28492532
FAHGreen Monkeycolorectal cancer  ISOFAH (Homo sapiens)8554872ClinVar Annotator: match by term: Familial colorectal cancerClinVarPMID:28492532
FAHGreen Monkeygenetic disease  ISOFAH (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:17576681 more ...
FAHGreen Monkeyhepatoblastoma  ISOFAH (Homo sapiens)8554872ClinVar Annotator: match by term: HepatoblastomaClinVar 
FAHGreen Monkeytyrosinemia  ISOFAH (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11278491 more ...
FAHGreen Monkeytyrosinemia type I  ISOFAH (Homo sapiens)8554872ClinVar Annotator: match by term: Tyrosinemia type IClinVarPMID:10073910 more ...
FAHGreen Monkeytyrosinemia type II  ISOFAH (Homo sapiens)8554872ClinVar Annotator: match by term: Tyrosinemia type IIClinVarPMID:14691918 more ...
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
FAHGreen Monkeytyrosinemia type I  ISOFAH (Homo sapiens)7240710 OMIM 


Biological Process
1 to 10 of 10 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
FAHGreen Monkeyarginine catabolic process acts_upstream_of_or_withinIEAUniProtKB:P35505 and ensembl:ENSMUSP00000032865150520179 EnsemblGO_REF:0000107
FAHGreen Monkeyaromatic amino acid metabolic process involved_inIEAInterPro:IPR005959 more ...150520179 InterProGO_REF:0000002
FAHGreen Monkeyhomogentisate catabolic process involved_inIEAPANTHER:PTN000067171150520179 TreeGrafterGO_REF:0000118
FAHGreen MonkeyL-phenylalanine catabolic process involved_inIEAUniProtKB-KW:KW-0585150520179 UniProtGO_REF:0000043
FAHGreen MonkeyL-phenylalanine catabolic process involved_inIEAPANTHER:PTN000067171150520179 TreeGrafterGO_REF:0000118
FAHGreen MonkeyL-phenylalanine catabolic process involved_inIEAUniRule:UR001080787150520179 UniProtGO_REF:0000104
FAHGreen MonkeyL-phenylalanine catabolic process involved_inIEAUniPathway:UPA00139150520179 UniProtGO_REF:0000041
FAHGreen Monkeytyrosine catabolic process involved_inIEAUniProtKB-KW:KW-0828150520179 UniProtGO_REF:0000043
FAHGreen Monkeytyrosine catabolic process involved_inIEAPANTHER:PTN000067171150520179 TreeGrafterGO_REF:0000118
FAHGreen Monkeytyrosine catabolic process involved_inIEAUniRule:UR001080787150520179 UniProtGO_REF:0000104
1 to 10 of 10 rows

Molecular Function
1 to 12 of 12 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
FAHGreen Monkeycatalytic activity enablesIEAInterPro:IPR011234 and InterPro:IPR036663150520179 InterProGO_REF:0000002
FAHGreen Monkeyfumarylacetoacetase activity enablesIEAInterPro:IPR005959 more ...150520179 InterProGO_REF:0000002
FAHGreen Monkeyfumarylacetoacetase activity enablesIEAPANTHER:PTN000067171150520179 TreeGrafterGO_REF:0000118
FAHGreen Monkeyfumarylacetoacetase activity enablesIEARHEA:10244150520179 RHEAGO_REF:0000116
FAHGreen Monkeyfumarylacetoacetase activity enablesIEAUniProtKB:P35505 and ensembl:ENSMUSP00000032865150520179 EnsemblGO_REF:0000107
FAHGreen Monkeyfumarylacetoacetase activity enablesIEAUniRule:UR001080787150520179 UniProtGO_REF:0000104
FAHGreen Monkeyfumarylacetoacetase activity enablesIEAEC:3.7.1.2150520179 UniProtGO_REF:0000003
FAHGreen Monkeyhydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
FAHGreen Monkeymetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
FAHGreen Monkeymetal ion binding enablesIEAUniRule:UR001080787150520179 UniProtGO_REF:0000104
FAHGreen Monkeyprotein binding enablesISOUniProtKB:Q3SY46 more ...9068941 PMID:32296183IntActPMID:32296183
FAHGreen Monkeyprotein binding enablesISOUniProtKB:P15884 more ...9068941 PMID:25416956IntActPMID:25416956
1 to 12 of 12 rows

Imported Annotations - SMPDB

1 to 9 of 9 rows
1 to 9 of 9 rows
PMID:22301074   PMID:30032202  



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
(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
(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
(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
(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

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Variants in FAH
1212 total Variants



ectoderm
endocrine system
hemolymphoid system
mesenchyme
mesoderm
nervous system
reproductive system
76 36 20 36 36 60 20



Ensembl Acc Id: ENSCSAT00000013168   ⟹   ENSCSAP00000011171
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1 Ensembl263,223,079 - 3,258,657 (-)Ensembl
RefSeq Acc Id: XM_008015666   ⟹   XP_008013857
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1263,223,327 - 3,258,600 (-)NCBI
Vero_WHO_p1.0NW_023666048138,617,513 - 138,652,526 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008015667   ⟹   XP_008013858
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1263,223,327 - 3,258,599 (-)NCBI
Vero_WHO_p1.0NW_023666048138,617,515 - 138,652,516 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008015668   ⟹   XP_008013859
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1263,223,327 - 3,258,487 (-)NCBI
Vero_WHO_p1.0NW_023666048138,617,646 - 138,652,516 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008015669   ⟹   XP_008013860
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1263,223,327 - 3,259,367 (-)NCBI
Vero_WHO_p1.0NW_023666048138,616,632 - 138,652,516 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008015670   ⟹   XP_008013861
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1263,223,327 - 3,258,605 (-)NCBI
Vero_WHO_p1.0NW_023666048138,617,528 - 138,652,526 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008015671   ⟹   XP_008013862
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1263,223,327 - 3,258,598 (-)NCBI
Vero_WHO_p1.0NW_023666048138,617,511 - 138,652,526 (+)NCBI
Sequence:
Protein RefSeqs XP_008013857 (Get FASTA)   NCBI Sequence Viewer  
  XP_008013858 (Get FASTA)   NCBI Sequence Viewer  
  XP_008013859 (Get FASTA)   NCBI Sequence Viewer  
  XP_008013860 (Get FASTA)   NCBI Sequence Viewer  
  XP_008013861 (Get FASTA)   NCBI Sequence Viewer  
  XP_008013862 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCSAP00000011171.1
RefSeq Acc Id: XP_008013860   ⟸   XM_008015669
- Peptide Label: isoform X1
- UniProtKB: A0A0D9RRD2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_008013861   ⟸   XM_008015670
- Peptide Label: isoform X2
- UniProtKB: A0A0D9RRD2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_008013857   ⟸   XM_008015666
- Peptide Label: isoform X1
- UniProtKB: A0A0D9RRD2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_008013858   ⟸   XM_008015667
- Peptide Label: isoform X1
- UniProtKB: A0A0D9RRD2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_008013862   ⟸   XM_008015671
- Peptide Label: isoform X2
- UniProtKB: A0A0D9RRD2 (UniProtKB/TrEMBL)



1 to 18 of 18 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSCSAG00000015069 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCSAT00000013168.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.30.230 UniProtKB/TrEMBL
  3.90.850.10 UniProtKB/TrEMBL
InterPro Fumarylacetoacetase UniProtKB/TrEMBL
  Fumarylacetoacetase-like_C UniProtKB/TrEMBL
  Fumarylacetoacetase_C_sf UniProtKB/TrEMBL
  Fumarylacetoacetase_N UniProtKB/TrEMBL
  Fumarylacetoacetase_N_sf UniProtKB/TrEMBL
KEGG Report csab:103245223 UniProtKB/TrEMBL
NCBI Gene FAH ENTREZGENE
PANTHER FUMARYLACETOACETASE UniProtKB/TrEMBL
  PTHR43069 UniProtKB/TrEMBL
Pfam FAA_hydrolase UniProtKB/TrEMBL
  FAA_hydrolase_N UniProtKB/TrEMBL
Superfamily-SCOP SSF56529 UniProtKB/TrEMBL
  SSF63433 UniProtKB/TrEMBL
UniProt A0A0D9RRD2 ENTREZGENE, UniProtKB/TrEMBL
1 to 18 of 18 rows