Manteia - Molecule gene

ENSMUSG00000030630

Mus musculus

Features

Gene ID:	ENSMUSG00000030630

Biological name :	Fah

Synonyms :	Fah / Fumarylacetoacetase / P35505

Possible biological names infered from orthology :	fumarylacetoacetate hydrolase / P16930

Species:	Mus musculus

Chr. number:	7
Strand:	-1
Band:	D3
Gene start:	84585159
Gene end:	84606722

Corresponding Affymetrix probe sets:	10565315 (MoGene1.0st) 1417220_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000121439 Ensembl peptide - ENSMUSP00000032865 NCBI entrez gene - 14085 See in Manteia. MGI - MGI:95482 RefSeq - NM_010176 RefSeq Peptide - NP_034306 swissprot - D3Z2R9 swissprot - P35505 Ensembl - ENSMUSG00000030630

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
fah	ENSDARG00000101762	Danio rerio
FAH	ENSGALG00000006482	Gallus gallus
FAH	ENSG00000103876	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

ID

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR005959	Fumarylacetoacetase
IPR011234	Fumarylacetoacetase-like, C-terminal
IPR015377	Fumarylacetoacetase, N-terminal
IPR036462	Fumarylacetoacetase, N-terminal domain superfamily
IPR036663	Fumarylacetoacetase-like, C-terminal domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006527	arginine catabolic process	IMP
biological_process	GO:0006559	L-phenylalanine catabolic process	IEA
biological_process	GO:0006572	tyrosine catabolic process	IEA
biological_process	GO:0008152	metabolic process	IEA
biological_process	GO:0009072	aromatic amino acid family metabolic process	IEA
molecular_function	GO:0003824	catalytic activity	IEA
molecular_function	GO:0004334	fumarylacetoacetase activity	IEA
molecular_function	GO:0016787	hydrolase activity	IEA
molecular_function	GO:0046872	metal ion binding	IEA

Pathways (from Reactome)

Pathway description

Phenylalanine and tyrosine catabolism

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000189	hypoglycemia	"low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd
MP:0000203	abnormal circulating aspartate transaminase level	"anomalous concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd
MP:0000598	abnormal liver morphology	"malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0000603	pale liver	"liver lacking normal coloration, often refers to bloodless condition" [J:18048]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * PT
MP:0000607	abnormal hepatocyte morphology	"malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0000609	abnormal liver physiology	"aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * PT Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0000611	jaundice	"clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * PT
MP:0001263	weight loss	"progressive reduction of body weight below normal average for age" [J:45400]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * PT Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0001501	abnormal sleep pattern	"deviation from the normal wake/sleep cycle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdx2^tm1Fbe/Cdx2⁺,Cdx4^tm1.1Jdes/Y Genetic Background: involves: 129 * C57BL/6 * CBA * FVB
MP:0001859	kidney inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * PT
MP:0001860	liver inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0002658	abnormal liver regeneration	"deviation from the normal ability of liver to regenerate healthy tissue following partial hepatectomy" [il:Ira Lu , Mouse Genome Informatics Curator]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0002705	dilated renal tubules	"enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * PT
MP:0003068	enlarged kidney	"larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0003311	aminoaciduria	"excretion of amino acids in the urine, especially in excessive amounts" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:66560]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0003324	liver adenoma	"benign epithelial neoplasm of the liver" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0003326	liver failure	"cessation of function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Atoh1^tm3Hzo/Atoh1⁺,Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc} Genetic Background: involves: 129 * 129S7/SvEvBrd * 129X1/SvJ
MP:0003331	hepatocellular carcinoma	"malignant neoplasm arising from liver cells" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0003675	kidney cysts	"abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
MP:0003887	increased hepatocyte apoptosis	"increase in the number of hepatocytes undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
MP:0003893	increased hepatocyte proliferation	"anomalous growth and reproduction of hepatocyte cells of the liver" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
MP:0004001	decreased hepatocyte proliferation	"reduced growth and reproduction of hepatocyte cells of the liver" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0004969	pale kidney	"kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0005165	increased susceptibility to injury	"greater than the normal reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0005311	abnormal circulating amino acid level	"aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0005332	abnormal amino acid level	"aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0005343	increased circulating aspartate transaminase level	"greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0005344	increased circulating bilirubin level	"greater than the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0005517	decreased liver regeneration	"less than the normal ability of liver to regenerate healthy tissue following partial hepatectomy" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0005553	increased circulating creatinine level	"greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Mlh1^tm1Lisk/Mlh1^tm1Lisk Genetic Background: involves: 129S7/SvEvBrd
MP:0008019	liver tumor	"presence of abnormal, rapidly proliferating cells in the liver usually in the form of a distinct mass" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0008891	decreased hepatocyte apoptosis	"reduction in the number of hepatocytes undergoing programmed cell death" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Atoh1^tm3Hzo/Atoh1⁺,Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc} Genetic Background: involves: 129 * 129S7/SvEvBrd * 129X1/SvJ
MP:0008987	abnormal liver lobule morphology	"any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0009050	dilated proximal convoluted tubules	"stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
MP:0009110	pancreas hyperplasia	"overdevelopment or increased size of the pancreas, usually due an increased number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0009176	increased pancreatic alpha cell number	"increase in the number of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0009641	kidney degeneration	"a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0009643	abnormal urine homeostasis	"anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Med24^tm1Rgr/Med24^tm1Rgr Genetic Background: involves: 129X1/SvJ * C57BL/6 * CD-1 Allelic Composition: Fah^2R/Fah^2R Genetic Background: BALB/cRl
MP:0009763	increased sensitivity to induced morbidity/mortality	"decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0009766	increased sensitivity to xenobiotic induced morbidity/mortality	"decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Atoh1^tm3Hzo/Atoh1⁺,Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc} Genetic Background: involves: 129 * 129S7/SvEvBrd * 129X1/SvJ
MP:0010080	abnormal hepatocyte physiology	"any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0010264	increased hepatoma incidence	"greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0010384	increased renal carcinoma incidence	"greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj,Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
MP:0011085	complete postnatal lethality	"premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Fah^2R/Fah^2R Genetic Background: BALB/cRl
MP:0011087	complete neonatal lethality	"death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Med24^tm1Rgr/Med24^tm1Rgr Genetic Background: involves: 129X1/SvJ * C57BL/6 * CD-1 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J) Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0012602	increased alpha-fetoprotein level		Show Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL
MP:0013723	increased circulating tyrosine level	"the amount of the amino acid histidine in the blood is more than expected" [MGI:csmith]	Show Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa Genetic Background: involves: 129S/SvEv * C57BL/6 Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * PT Allelic Composition: Fah^tm1Mgo/Fah^tm1Mgo Genetic Background: involves: 129S7/SvEvBrd * C57BL

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000030630	Fah / P35505 / Fumarylacetoacetase / P16930* / fumarylacetoacetate hydrolase*	/ complex

0 s.

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