Fah fumarylacetoacetate hydrolase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Fahprovided by RGD
Official Full Name: fumarylacetoacetate hydrolaseprovided by RGD
Primary source: RGD:61932
See related: EnsemblRapid:ENSRNOG00000013223 AllianceGenome:RGD:61932
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: 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). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in Liver (RPKM 1515.2), Kidney (RPKM 1015.2) and 2 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (147957931..147980708, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (138548830..138571599, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (146713663..146736339, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Using CRISPR/Cas9 technique, Fah(-/-) rats were generated. They faithfully represented major phenotypic and biochemical manifestations of human ereditary tyrosinemia type I (HT1), including hypertyrosinemia, liver failure, and renal tubular damage. More importantly, they developed remarkable liver fibrosis and cirrhosis which can be prevented with wild-type hepatocytes transplantation.
Title: Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I.
Urinary excretion of fumarylacetoacetase is a potential biomarker candidate of predisposition to kidney injury induced by sub-toxic administration of cisplatin.
Title: Sub-nephrotoxic cisplatin sensitizes rats to acute renal failure and increases urinary excretion of fumarylacetoacetase.

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables fumarylacetoacetase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fumarylacetoacetase activity	IEA Inferred from Electronic Annotation more info
enables fumarylacetoacetase activity	ISO Inferred from Sequence Orthology more info
enables fumarylacetoacetase activity	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-phenylalanine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-phenylalanine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in arginine catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within arginine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
involved_in homogentisate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in tyrosine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tyrosine catabolic process	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fumarylacetoacetase

Names: FAA; beta-diketonase

NP_058877.1

EC 3.7.1.2

XP_038964739.1

EC 3.7.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_017181.2 → NP_058877.1 fumarylacetoacetase

See identical proteins and their annotated locations for NP_058877.1

Status: PROVISIONAL

Source sequence(s)

BC076381

UniProtKB/Swiss-Prot

P25093

UniProtKB/TrEMBL

A6JCP0, F1M6W1

Related

ENSRNOP00000061132.5, ENSRNOT00000068167.5

Conserved Domains (3) summary

TIGR01266
Location:2 → 416

fum_ac_acetase; fumarylacetoacetase

pfam01557
Location:124 → 390

FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

pfam09298
Location:15 → 118

FAA_hydrolase_N; Fumarylacetoacetase N-terminal

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

147957931..147980708 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039108811.2 → XP_038964739.1 fumarylacetoacetase isoform X1

UniProtKB/TrEMBL

F1M6W1

Conserved Domains (1) summary

TIGR01266
Location:1 → 346

fum_ac_acetase; fumarylacetoacetase