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Search results 301 to 353 out of 353 for Fah

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Type Details Score
Allele
Fah<em1Mvw> | MGI:5485380
Name: fumarylacetoacetate hydrolase; endonuclease-mediated mutation 1, Michael Wiles
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Allele
Tyr<c-26DVT> | MGI:2153742
 
Name: tyrosinase; albino deletion 26DVT, Oak Ridge
Allele Type: Radiation induced
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Allele
Adam22<em1Mafu> | MGI:6693429
Name: a disintegrin and metallopeptidase domain 22; endonuclease-mediated mutation 1, Masaki Fukata
Allele Type: Endonuclease-mediated
Attribute String: Epitope tag, Modified isoform(s)
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Allele
Hsdr1 | MGI:1856906
 
Name: hepatocyte specific developmental regulation 1
Allele Type: Radiation induced
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Publication
2813427 | J:10097
First Author: Johnson DK
Year: 1989
Journal: Proc Natl Acad Sci U S A
Title: Molecular mapping within the mouse albino-deletion complex.
Volume: 86
Issue: 22
Pages: 8862-6
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Genotype
Genotype
Symbol: Tyr/Tyr
Background: involves: 101/Rl * C3H/Rl * T-stock
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tyr/Tyr<+>
Background: involves: 101/Rl * C3H/Rl * T-stock
Zygosity: ht
Has Mutant Allele: true
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Publication
8147847 | J:16987
First Author: Holdener BC
Year: 1994
Journal: Bioessays
Title: A mouse model for human hereditary tyrosinemia I.
Volume: 16
Issue: 2
Pages: 85-7
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Publication
36985 | J:6158
First Author: Gluecksohn-Waelsch S
Year: 1979
Journal: Cell
Title: Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.
Volume: 16
Issue: 2
Pages: 225-37
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Publication
- | J:23424
 
First Author: Gluecksohn-Waelsch S
Year: 1989
Journal: Mouse News Lett
Title: Research News: the precise timing of hormone inducibility of liver specifice structural genes
Volume: 83
Pages: 149
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Publication
27097641 | -
First Author: Zhi T
Year: 2016
Journal: Planta
Title: Sugar suppresses cell death caused by disruption of fumarylacetoacetate hydrolase in Arabidopsis.
Volume: 244
Issue: 3
Pages: 557-71
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Protein Domain
IPR036462 | Fumarylacetoacetase_N_sf
Type: Homologous_superfamily
Description: Fumarylacetoacetase (; also known as fumarylacetoacetate hydrolase or FAH) catalyses the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield fumarate and acetoacetate as the final step in phenylalanine and tyrosine degradation []. This is an essential metabolic function in humans, the lack of FAH causing type I tyrosinaemia, which is associated with liver and kidney abnormalities and neurological disorders [, ]. The enzyme mechanism involves a catalytic metal ion, a Glu/His catalytic dyad, and a charged oxyanion hole []. FAH folds into two domains: anN-terminal domain SH3-like β-barrel, and a C-terminal with an unusual fold consisting of three layers of β-sheet structures [].This entry represents the N-terminal domain superfamily of fumarylacetoacetase. This domain adopts a structure consisting of an SH3-like barrel [].
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Protein Domain
IPR005959 | Fumarylacetoacetase
Type: Family
Description: Fumarylacetoacetase (; also known as fumarylacetoacetate hydrolase or FAH) catalyses the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield fumarate and acetoacetate as the final step in phenylalanine and tyrosine degradation [, ]. This is an essential metabolic function in humans, the lack of FAH causing type I tyrosinemia, which is associated with liver and kidney abnormalities and neurological disorders [, ]. The enzyme mechanism involves a catalytic metal ion, a Glu/His catalytic dyad, and a charged oxyanion hole []. FAH folds into two domains: an N-terminal domain SH3-like β-barrel, and a C-terminal with an unusual fold consisting of three layers of β-sheet structures [].In Aspergillus fumigatus, this enzyme is part of the L-tyrosine degradation gene cluster that mediates the biosynthesis of the brownish pigment pyomelanin as an alternative melanin [, ].
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Protein Domain
IPR015377 | Fumarylacetoacetase_N
Type: Domain
Description: Fumarylacetoacetase (; also known as fumarylacetoacetate hydrolase or FAH) catalyses the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield fumarate and acetoacetate as the final step in phenylalanine and tyrosine degradation []. This is an essential metabolic function in humans, the lack of FAH causing type I tyrosinaemia, which is associated with liver and kidney abnormalities and neurological disorders [, ]. The enzyme mechanism involves a catalytic metal ion, a Glu/His catalytic dyad, and a charged oxyanion hole []. FAH folds into two domains: an N-terminal domain SH3-like β-barrel, and a C-terminal with an unusual fold consisting of three layers of β-sheet structures [].This entry represents the N-terminal domain of fumarylacetoacetase. This domain adopts a structure consisting of an SH3-like barrel [].
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Publication
10508789 | -
First Author: Timm DE
Year: 1999
Journal: Structure
Title: Crystal structure and mechanism of a carbon-carbon bond hydrolase.
Volume: 7
Issue: 9
Pages: 1023-33
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Publication
11154690 | -
First Author: Bateman RL
Year: 2001
Journal: J Biol Chem
Title: Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor.
Volume: 276
Issue: 18
Pages: 15284-91
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Protein
P35505
Organism: Mus musculus/domesticus
Length: 419  
Fragment?: false
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Publication
16602095 | -
First Author: Scott CR
Year: 2006
Journal: Am J Med Genet C Semin Med Genet
Title: The genetic tyrosinemias.
Volume: 142C
Issue: 2
Pages: 121-6
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Protein Domain
IPR036663 | Fumarylacetoacetase_C_sf
Type: Homologous_superfamily
Description: Fumarylacetoacetase (; also known as fumarylacetoacetate hydrolase or FAH) catalyses the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield fumarate and acetoacetate as the final step in phenylalanine and tyrosine degradation []. This is an essential metabolic function in humans, the lack of FAH causing type I tyrosinaemia, which is associated with liver and kidney abnormalities and neurological disorders [, ]. The enzyme mechanism involves a catalytic metal ion, a Glu/His catalytic dyad, and a charged oxyanion hole []. FAH folds into two domains: an N-terminal domain SH3-like β-barrel, and a C-terminal with an unusual fold consisting of three layers of β-sheet structures [].This superfamily represents the C-terminal domain of fumarylacetoacetase, as well as other domains that share a homologous α/β structure, including:5-carboxymethyl-2-hydroxymuconate delta-isomerase (CHM isomerase; ), which catalyses the conversion of 5-carboxymethyl-2-hydroxymuconate to 5-carboxy-2-oxohept-3-enedioate [].5-oxopent-3-ene-1,2,5-tricarboxylate decarboxylase (OPET decarboxylase; ),which catalyses the conversion of 5-oxopent-3-ene-1,2,5-tricarboxylate to 2-oxohept-3-enedioate and carbon dioxide.Bifunctional enzyme HpcE (OPET decarboxylase /HHDD isomerase ), which is a duplication consisting of a tandem repeat of two FAH C-terminal-like domains. This enzyme is responsible for the degradation of 4-hydroxyphenylacetate, a product of tyrosine and phenylalanine metabolism also released by lignin catabolism []. 2-keto-4-pentenoate hydratase MhpD (; also known as 2-oxopent-4-enoate hydratase), which converts 4-hydroxy-2-oxopentanoate to 2-oxopent-4-enoate [].4-oxalocrotonate decarboxylase (4-OD; ), which catalyses the conversion of 4-oxalocrotonate to 2-oxopent-4-enoate and carbon dioxide [].2-oxo-hepta-3-ene-1,7-dioic acid hydratase, which hydrates the double bond of 2-oxo-hepta-3-ene-1,7-dioic acid to form 4-hydroxy-2-oxo-heptane-1,7-dioic acid in the catabolism of 4-hydroxyphenylacetic acid.
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Protein Domain
IPR011234 | Fumarylacetoacetase-like_C
Type: Domain
Description: Fumarylacetoacetase (; also known as fumarylacetoacetate hydrolase or FAH) catalyses the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield fumarate and acetoacetate as the final step in phenylalanine and tyrosine degradation []. This is an essential metabolic function in humans, the lack of FAH causing type I tyrosinaemia, which is associated with liver and kidney abnormalities and neurological disorders [, ]. The enzyme mechanism involves a catalytic metal ion, a Glu/His catalytic dyad, and a charged oxyanion hole []. FAH folds into two domains: an N-terminal domain SH3-like β-barrel, and a C-terminal with an unusual fold consisting of three layers of β-sheet structures [].This entry represents the C-terminal domain of fumarylacetoacetase, as well as other domains that share a homologous α/β structure, including:5-carboxymethyl-2-hydroxymuconate delta-isomerase (CHM isomerase; ), which catalyses the conversion of 5-carboxymethyl-2-hydroxymuconate to 5-carboxy-2-oxohept-3-enedioate [].5-oxopent-3-ene-1,2,5-tricarboxylate decarboxylase (OPET decarboxylase; ), which catalyses the conversion of 5-oxopent-3-ene-1,2,5-tricarboxylate to 2-oxohept-3-enedioate and carbon dioxide.Bifunctional enzyme HpcE (OPET decarboxylase /HHDD isomerase ), whichis a duplication consisting of a tandem repeat of two FAH C-terminal-like domains. This enzyme is responsible for the degradation of 4-hydroxyphenylacetate, a product of tyrosine and phenylalanine metabolism also released by lignin catabolism []. 2-keto-4-pentenoate hydratase MhpD (; also known as 2-oxopent-4-enoate hydratase), which converts 4-hydroxy-2-oxopentanoate to 2-oxopent-4-enoate [].4-oxalocrotonate decarboxylase (4-OD; ), which catalyses the conversion of 4-oxalocrotonate to 2-oxopent-4-enoate and carbon dioxide [].2-oxo-hepta-3-ene-1,7-dioic acid hydratase, which hydrates the double bond of 2-oxo-hepta-3-ene-1,7-dioic acid to form 4-hydroxy-2-oxo-heptane-1,7-dioic acid in the catabolism of 4-hydroxyphenylacetic acid.
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Protein
D3Z2R9
Organism: Mus musculus/domesticus
Length: 141  
Fragment?: true
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Protein
Q3TC72
Organism: Mus musculus/domesticus
Length: 313  
Fragment?: false
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Protein
Q8R0F8
Organism: Mus musculus/domesticus
Length: 227  
Fragment?: false
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Protein
A0A0R4J094
Organism: Mus musculus/domesticus
Length: 313  
Fragment?: false
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Publication
2194841 | -
First Author: Roper DI
Year: 1990
Journal: FEBS Lett
Title: Purification, some properties and nucleotide sequence of 5-carboxymethyl-2-hydroxymuconate isomerase of Escherichia coli C.
Volume: 266
Issue: 1-2
Pages: 63-6
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Publication
11863436 | -
First Author: Tame JR
Year: 2002
Journal: Biochemistry
Title: The crystal structure of HpcE, a bifunctional decarboxylase/isomerase with a multifunctional fold.
Volume: 41
Issue: 9
Pages: 2982-9
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Publication
10537203 | -
 
First Author: Arai H
Year: 1999
Journal: Microbiology
Title: Genetic organization and characteristics of the 3-(3-hydroxyphenyl)propionic acid degradation pathway of Comamonas testosteroni TA441.
Volume: 145 ( Pt 10)
Pages: 2813-20
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Publication
10651637 | -
First Author: Stanley TM
Year: 2000
Journal: Biochemistry
Title: Expression and stereochemical and isotope effect studies of active 4-oxalocrotonate decarboxylase.
Volume: 39
Issue: 4
Pages: 718-26
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Publication
1889814 | J:11422
First Author: Tönjes RR
Year: 1991
Journal: Genomics
Title: Microclones derived from the mouse chromosome 7 D-E bands map within the proximal region of the c14CoS deletion in albino mutant mice.
Volume: 10
Issue: 3
Pages: 686-91
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Strain
MGI:6159904 | NOD.Cg-Rag1<tm1Mom> Fah<em1Mvw> Il2rg<tm1Wjl>/MvwJ
Attribute String: congenic, endonuclease-mediated mutation, mutant strain, targeted mutation
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Publication
33397806 | J:300752
 
First Author: Fukata Y
Year: 2021
Journal: Proc Natl Acad Sci U S A
Title: LGI1-ADAM22-MAGUK configures transsynaptic nanoalignment for synaptic transmission and epilepsy prevention.
Volume: 118
Issue: 3
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Genotype
Genotype
Symbol: Tenm4/Tenm4<+> Tyr/Tyr<+>
Background: involves: 101/Rl * BALB/cRl * C3H/Rl * C57BL/10Rl * T-stock
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tyr/Tyr
Background: involves: 101/Rl * C3H/Rl * T-stock
Zygosity: ht
Has Mutant Allele: true
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Publication
19028908 | -
First Author: Schmaler-Ripcke J
Year: 2009
Journal: Appl Environ Microbiol
Title: Production of pyomelanin, a second type of melanin, via the tyrosine degradation pathway in Aspergillus fumigatus.
Volume: 75
Issue: 2
Pages: 493-503
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Publication
22046314 | -
First Author: Keller S
Year: 2011
Journal: PLoS One
Title: Pyomelanin formation in Aspergillus fumigatus requires HmgX and the transcriptional activator HmgR but is dispensable for virulence.
Volume: 6
Issue: 10
Pages: e26604
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Publication
8307326 | J:15677
First Author: Rinchik EM
Year: 1993
Journal: Genetics
Title: Molecular analysis of radiation-induced albino (c)-locus mutations that cause death at preimplantation stages of development.
Volume: 135
Issue: 4
Pages: 1107-16
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Publication
8422502 | J:3753
First Author: Potter MD
Year: 1993
Journal: Mamm Genome
Title: Deletion mapping of the chocolate (cht) locus within the Fes-Hbb region of mouse chromosome 7.
Volume: 4
Issue: 1
Pages: 46-8
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Publication
9335613 | J:43297
First Author: Rikke BA
Year: 1997
Journal: Genetics
Title: Murine albino-deletion complex: high-resolution microsatellite map and genetically anchored YAC framework map.
Volume: 147
Issue: 2
Pages: 787-99
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Publication
574104 | J:141526
First Author: Russell LB
Year: 1979
Journal: Genetics
Title: Analysis of the albino-locus region of the mouse. III. Time of death of prenatal lethals.
Volume: 92
Issue: 1
Pages: 205-13
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Publication
21878618 | J:330407
First Author: Pircher H
Year: 2011
Journal: J Biol Chem
Title: Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase.
Volume: 286
Issue: 42
Pages: 36500-8
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Publication
9689118 | J:120500
First Author: Kubo S
Year: 1998
Journal: Proc Natl Acad Sci U S A
Title: Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.
Volume: 95
Issue: 16
Pages: 9552-7
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Publication
8307327 | J:15679
First Author: Rinchik EM
Year: 1993
Journal: Genetics
Title: Deletion mapping of four loci defined by N-ethyl-N-nitrosourea-induced postimplantation-lethal mutations within the pid-Hbb region of mouse chromosome 7.
Volume: 135
Issue: 4
Pages: 1117-23
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Publication
7117820 | J:23420
First Author: Russell LB
Year: 1982
Journal: Genetics
Title: Analysis of the albino-locus region of the mouse: IV. Characterization of 34 deficiencies.
Volume: 100
Issue: 3
Pages: 427-53
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Publication
11465101 | J:69513
First Author: Mathieu PA
Year: 2001
Journal: Eur J Immunol
Title: Identification of two liver proteins recognized by autoantibodies elicited in mice infected with mouse hepatitis virus A59.
Volume: 31
Issue: 5
Pages: 1447-55
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Publication
1998338 | J:11013
First Author: Phaneuf D
Year: 1991
Journal: Am J Hum Genet
Title: Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
Volume: 48
Issue: 3
Pages: 525-35
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Publication
17987349 | J:133669
First Author: Wentz SC
Year: 2008
Journal: J Gastrointest Surg
Title: Targeting MEK is effective chemoprevention of hepatocellular carcinoma in TGF-alpha-transgenic mice.
Volume: 12
Issue: 1
Pages: 30-7
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Publication
36092730 | J:329293
 
First Author: Zhang S
Year: 2022
Journal: Front Cell Dev Biol
Title: The cell cycle inhibitor RB is diluted in G1 and contributes to controlling cell size in the mouse liver.
Volume: 10
Pages: 965595
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Publication
2300582 | J:10283
First Author: Rinchik EM
Year: 1990
Journal: Proc Natl Acad Sci U S A
Title: A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis.
Volume: 87
Issue: 3
Pages: 896-900
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Publication
1427844 | J:2635
First Author: Kelsey G
Year: 1992
Journal: Genomics
Title: Physical mapping of the albino-deletion complex in the mouse to localize alf/hsdr-1, a locus required for neonatal survival.
Volume: 14
Issue: 2
Pages: 275-87
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Publication
4150768 | J:5435
First Author: Gluecksohn-Waelsch S
Year: 1974
Journal: Proc Natl Acad Sci U S A
Title: Complementation studies of lethal alleles in the mouse causing deficiencies of glucose-6-phosphatase, tyrosine aminotransferase, and serine dehydratase.
Volume: 71
Issue: 3
Pages: 825-9
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Publication
15489520 | J:96673
First Author: Lossie AC
Year: 2005
Journal: Genetics
Title: Mutation of l7Rn3 shows that Odz4 is required for mouse gastrulation.
Volume: 169
Issue: 1
Pages: 285-99
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Publication
34910912 | J:328338
First Author: Yokoi N
Year: 2021
Journal: Cell Rep
Title: 14-3-3 proteins stabilize LGI1-ADAM22 levels to regulate seizure thresholds in mice.
Volume: 37
Issue: 11
Pages: 110107
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Publication
- | J:100221
     
First Author: Oak Ridge National Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN
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