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P16930

- FAAA_HUMAN

UniProt

P16930 - FAAA_HUMAN

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Protein
Fumarylacetoacetase
Gene
FAH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

4-fumarylacetoacetate + H2O = acetoacetate + fumarate.

Cofactori

Calcium By similarity.
Magnesium By similarity.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi126 – 1261Calcium By similarity
Binding sitei128 – 1281Substrate By similarity
Active sitei133 – 1331Proton acceptor Inferred
Binding sitei142 – 1421Substrate By similarity
Metal bindingi199 – 1991Calcium By similarity
Metal bindingi201 – 2011Calcium By similarity
Metal bindingi233 – 2331Calcium By similarity
Metal bindingi233 – 2331Magnesium By similarity
Binding sitei240 – 2401Substrate By similarity
Binding sitei244 – 2441Substrate By similarity
Metal bindingi253 – 2531Magnesium By similarity
Metal bindingi257 – 2571Magnesium By similarity
Binding sitei350 – 3501Substrate By similarity

GO - Molecular functioni

  1. fumarylacetoacetase activity Source: Reactome
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. L-phenylalanine catabolic process Source: Reactome
  2. arginine catabolic process Source: Ensembl
  3. cellular nitrogen compound metabolic process Source: Reactome
  4. small molecule metabolic process Source: Reactome
  5. tyrosine catabolic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Phenylalanine catabolism, Tyrosine catabolism

Keywords - Ligandi

Calcium, Magnesium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02536-MONOMER.
ReactomeiREACT_1786. Phenylalanine and tyrosine catabolism.
UniPathwayiUPA00139; UER00341.

Names & Taxonomyi

Protein namesi
Recommended name:
Fumarylacetoacetase (EC:3.7.1.2)
Short name:
FAA
Alternative name(s):
Beta-diketonase
Fumarylacetoacetate hydrolase
Gene namesi
Name:FAH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:3579. FAH.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Tyrosinemia 1 (TYRSN1) [MIM:276700]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.
Note: The disease is caused by mutations affecting the gene represented in this entry.14 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161N → I in TYRSN1; loss of activity. 2 Publications
VAR_005205
Natural varianti35 – 351A → T in TYRSN1; atypical mild phenotype. 1 Publication
VAR_065454
Natural varianti62 – 621F → C in TYRSN1; loss of activity. 1 Publication
VAR_005206
Natural varianti64 – 641Q → H in TYRSN1.
VAR_005207
Natural varianti134 – 1341A → D in TYRSN1; loss of activity. 3 Publications
VAR_005208
Natural varianti158 – 1581G → D in TYRSN1. 1 Publication
VAR_005209
Natural varianti166 – 1661V → G in TYRSN1. 1 Publication
VAR_005210
Natural varianti193 – 1931C → R in TYRSN1; loss of activity. 2 Publications
VAR_005211
Natural varianti207 – 2071G → D in TYRSN1.
VAR_005212
Natural varianti233 – 2331D → V in TYRSN1; loss of activity. 2 Publications
VAR_005213
Natural varianti234 – 2341W → G in TYRSN1; loss of activity. 2 Publications
VAR_005214
Natural varianti249 – 2491P → T in TYRSN1.
VAR_005215
Natural varianti261 – 2611P → L in TYRSN1. 1 Publication
VAR_005216
Natural varianti279 – 2791Q → R in TYRSN1; may affect splicing resulting in skipping of exon 8 alone or together with exon 9; lower activity as compared to wild type. 3 Publications
VAR_065455
Natural varianti294 – 2941T → P in TYRSN1.
VAR_005217
Natural varianti337 – 3371G → S in TYRSN1. 1 Publication
VAR_005218
Natural varianti341 – 3411R → W in TYRSN1; pseudo-deficient phenotype; lower activity. 2 Publications
Corresponds to variant rs11555096 [ dbSNP | Ensembl ].
VAR_005219
Natural varianti342 – 3421P → L in TYRSN1; loss of activity. 1 Publication
VAR_005220
Natural varianti366 – 3661Missing in TYRSN1. 1 Publication
VAR_005221
Natural varianti369 – 3691G → V in TYRSN1. 1 Publication
VAR_005222
Natural varianti381 – 3811R → G in TYRSN1; loss of activity. 1 Publication
VAR_005223
Natural varianti405 – 4051F → H in TYRSN1; requires 2 nucleotide substitutions. 1 Publication
VAR_005224

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi276700. phenotype.
Orphaneti882. Tyrosinemia type 1.
PharmGKBiPA27977.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 419418Fumarylacetoacetase
PRO_0000156825Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP16930.
PaxDbiP16930.
PeptideAtlasiP16930.
PRIDEiP16930.

2D gel databases

OGPiP16930.
REPRODUCTION-2DPAGEIPI00031708.

PTM databases

PhosphoSiteiP16930.

Expressioni

Tissue specificityi

Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.

Gene expression databases

ArrayExpressiP16930.
BgeeiP16930.
CleanExiHS_FAH.
GenevestigatoriP16930.

Organism-specific databases

HPAiHPA041370.
HPA044093.

Interactioni

Subunit structurei

Homodimer.

Protein-protein interaction databases

BioGridi108479. 2 interactions.
IntActiP16930. 1 interaction.
STRINGi9606.ENSP00000261755.

Structurei

3D structure databases

ProteinModelPortaliP16930.
SMRiP16930. Positions 1-416.

Family & Domainsi

Sequence similaritiesi

Belongs to the FAH family.

Phylogenomic databases

eggNOGiCOG0179.
HOGENOMiHOG000256845.
HOVERGENiHBG001919.
InParanoidiP16930.
KOiK01555.
OMAiFVGPGNK.
PhylomeDBiP16930.
TreeFamiTF315211.

Family and domain databases

Gene3Di2.30.30.230. 1 hit.
3.90.850.10. 1 hit.
InterProiIPR005959. Fumarylacetoacetase.
IPR002529. Fumarylacetoacetase_C.
IPR011234. Fumarylacetoacetase_C-rel.
IPR015377. Fumarylacetoacetase_N.
[Graphical view]
PANTHERiPTHR11820:SF1. PTHR11820:SF1. 1 hit.
PfamiPF01557. FAA_hydrolase. 1 hit.
PF09298. FAA_hydrolase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56529. SSF56529. 1 hit.
SSF63433. SSF63433. 1 hit.
TIGRFAMsiTIGR01266. fum_ac_acetase. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P16930-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MSFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF    50
TGPVLSKHQD VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT 100
ELRKCAFISQ ASATMHLPAT IGDYTDFYSS RQHATNVGIM FRDKENALMP 150
NWLHLPVGYH GRASSVVVSG TPIRRPMGQM KPDDSKPPVY GACKLLDMEL 200
EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ KWEYVPLGPF 250
LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS 300
VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT 350
ISGPEPENFG SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG 400
YRIGFGQCAG KVLPALLPS 419
Length:419
Mass (Da):46,374
Last modified:August 1, 1992 - v2
Checksum:i12EA8D8074C55BB2
GO
Isoform 2 (identifier: P16930-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.

Note: No experimental confirmation available.

Show »
Length:349
Mass (Da):38,614
Checksum:i76484AD16731BE21
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161N → I in TYRSN1; loss of activity. 2 Publications
VAR_005205
Natural varianti35 – 351A → T in TYRSN1; atypical mild phenotype. 1 Publication
VAR_065454
Natural varianti62 – 621F → C in TYRSN1; loss of activity. 1 Publication
VAR_005206
Natural varianti64 – 641Q → H in TYRSN1.
VAR_005207
Natural varianti134 – 1341A → D in TYRSN1; loss of activity. 3 Publications
VAR_005208
Natural varianti158 – 1581G → D in TYRSN1. 1 Publication
VAR_005209
Natural varianti166 – 1661V → G in TYRSN1. 1 Publication
VAR_005210
Natural varianti193 – 1931C → R in TYRSN1; loss of activity. 2 Publications
VAR_005211
Natural varianti207 – 2071G → D in TYRSN1.
VAR_005212
Natural varianti233 – 2331D → V in TYRSN1; loss of activity. 2 Publications
VAR_005213
Natural varianti234 – 2341W → G in TYRSN1; loss of activity. 2 Publications
VAR_005214
Natural varianti249 – 2491P → T in TYRSN1.
VAR_005215
Natural varianti261 – 2611P → L in TYRSN1. 1 Publication
VAR_005216
Natural varianti279 – 2791Q → R in TYRSN1; may affect splicing resulting in skipping of exon 8 alone or together with exon 9; lower activity as compared to wild type. 3 Publications
VAR_065455
Natural varianti294 – 2941T → P in TYRSN1.
VAR_005217
Natural varianti337 – 3371G → S in TYRSN1. 1 Publication
VAR_005218
Natural varianti341 – 3411R → W in TYRSN1; pseudo-deficient phenotype; lower activity. 2 Publications
Corresponds to variant rs11555096 [ dbSNP | Ensembl ].
VAR_005219
Natural varianti342 – 3421P → L in TYRSN1; loss of activity. 1 Publication
VAR_005220
Natural varianti366 – 3661Missing in TYRSN1. 1 Publication
VAR_005221
Natural varianti369 – 3691G → V in TYRSN1. 1 Publication
VAR_005222
Natural varianti381 – 3811R → G in TYRSN1; loss of activity. 1 Publication
VAR_005223
Natural varianti405 – 4051F → H in TYRSN1; requires 2 nucleotide substitutions. 1 Publication
VAR_005224

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7070Missing in isoform 2.
VSP_055491Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M55150 mRNA. Translation: AAA52422.1.
BT007160 mRNA. Translation: AAP35824.1.
AK313951 mRNA. Translation: BAG36668.1.
BX537608 mRNA. Translation: CAD97795.1.
AC087761 Genomic DNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99120.1.
CH471136 Genomic DNA. Translation: EAW99121.1.
BC002527 mRNA. Translation: AAH02527.1.
X51728 mRNA. Translation: CAA36016.1.
CCDSiCCDS10314.1.
PIRiA37926.
RefSeqiNP_000128.1. NM_000137.2.
UniGeneiHs.73875.

Genome annotation databases

EnsembliENST00000261755; ENSP00000261755; ENSG00000103876.
ENST00000407106; ENSP00000385080; ENSG00000103876.
ENST00000539156; ENSP00000454271; ENSG00000103876.
ENST00000561421; ENSP00000453347; ENSG00000103876.
GeneIDi2184.
KEGGihsa:2184.
UCSCiuc002bfm.2. human.

Polymorphism databases

DMDMi119778.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M55150 mRNA. Translation: AAA52422.1 .
BT007160 mRNA. Translation: AAP35824.1 .
AK313951 mRNA. Translation: BAG36668.1 .
BX537608 mRNA. Translation: CAD97795.1 .
AC087761 Genomic DNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99120.1 .
CH471136 Genomic DNA. Translation: EAW99121.1 .
BC002527 mRNA. Translation: AAH02527.1 .
X51728 mRNA. Translation: CAA36016.1 .
CCDSi CCDS10314.1.
PIRi A37926.
RefSeqi NP_000128.1. NM_000137.2.
UniGenei Hs.73875.

3D structure databases

ProteinModelPortali P16930.
SMRi P16930. Positions 1-416.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108479. 2 interactions.
IntActi P16930. 1 interaction.
STRINGi 9606.ENSP00000261755.

PTM databases

PhosphoSitei P16930.

Polymorphism databases

DMDMi 119778.

2D gel databases

OGPi P16930.
REPRODUCTION-2DPAGE IPI00031708.

Proteomic databases

MaxQBi P16930.
PaxDbi P16930.
PeptideAtlasi P16930.
PRIDEi P16930.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261755 ; ENSP00000261755 ; ENSG00000103876 .
ENST00000407106 ; ENSP00000385080 ; ENSG00000103876 .
ENST00000539156 ; ENSP00000454271 ; ENSG00000103876 .
ENST00000561421 ; ENSP00000453347 ; ENSG00000103876 .
GeneIDi 2184.
KEGGi hsa:2184.
UCSCi uc002bfm.2. human.

Organism-specific databases

CTDi 2184.
GeneCardsi GC15P080445.
HGNCi HGNC:3579. FAH.
HPAi HPA041370.
HPA044093.
MIMi 276700. phenotype.
613871. gene.
neXtProti NX_P16930.
Orphaneti 882. Tyrosinemia type 1.
PharmGKBi PA27977.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0179.
HOGENOMi HOG000256845.
HOVERGENi HBG001919.
InParanoidi P16930.
KOi K01555.
OMAi FVGPGNK.
PhylomeDBi P16930.
TreeFami TF315211.

Enzyme and pathway databases

UniPathwayi UPA00139 ; UER00341 .
BioCyci MetaCyc:HS02536-MONOMER.
Reactomei REACT_1786. Phenylalanine and tyrosine catabolism.

Miscellaneous databases

ChiTaRSi FAH. human.
GeneWikii Fumarylacetoacetate_hydrolase.
GenomeRNAii 2184.
NextBioi 8817.
PROi P16930.
SOURCEi Search...

Gene expression databases

ArrayExpressi P16930.
Bgeei P16930.
CleanExi HS_FAH.
Genevestigatori P16930.

Family and domain databases

Gene3Di 2.30.30.230. 1 hit.
3.90.850.10. 1 hit.
InterProi IPR005959. Fumarylacetoacetase.
IPR002529. Fumarylacetoacetase_C.
IPR011234. Fumarylacetoacetase_C-rel.
IPR015377. Fumarylacetoacetase_N.
[Graphical view ]
PANTHERi PTHR11820:SF1. PTHR11820:SF1. 1 hit.
Pfami PF01557. FAA_hydrolase. 1 hit.
PF09298. FAA_hydrolase_N. 1 hit.
[Graphical view ]
SUPFAMi SSF56529. SSF56529. 1 hit.
SSF63433. SSF63433. 1 hit.
TIGRFAMsi TIGR01266. fum_ac_acetase. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15."
    Phaneuf D., Labelle Y., Berube D., Arden K., Cavenee W., Gagne R., Tanguay R.M.
    Am. J. Hum. Genet. 48:525-535(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Small intestine.
  5. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  8. Bienvenut W.V.
    Submitted (JAN-2010) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 2-25; 32-47; 83-95 AND 195-211, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Ovarian carcinoma.
  9. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 71-419 (ISOFORM 1).
    Tissue: Liver.
  10. "Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview."
    St Louis M., Tanguay R.M.
    Hum. Mutat. 9:291-299(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient."
    Phaneuf D., Lambert M., Laframboise R., Mitchell G., Lettre F., Tanguay R.M.
    J. Clin. Invest. 90:1185-1192(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 ILE-16.
  13. "Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity."
    Labelle Y., Phaneuf D., Leclerc B., Tanguay R.M.
    Hum. Mol. Genet. 2:941-946(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 ASP-134.
  14. "Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I."
    Grompe M., Al-Dhalimy M.
    Hum. Mutat. 2:85-93(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 GLY-166.
  15. "Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1."
    Rootwelt H., Berger R., Gray G., Kelly D.A., Coskun T., Kvittingen E.A.
    Am. J. Hum. Genet. 55:653-658(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 VAL-233.
  16. "Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I."
    Rootwelt H., Brodtkorb E., Kvittingen E.A.
    Am. J. Hum. Genet. 55:1122-1127(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 TRP-341.
  17. "Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase."
    Rootwelt H., Chou J., Gahl W.A., Berger R., Coskun T., Brodtkorb E., Kvittingen E.A.
    Hum. Genet. 93:615-619(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TYRSN1 ASP-134 AND LEU-342.
  18. "Two novel mutations involved in hereditary tyrosinemia type I."
    St Louis M., Poudrier J., Phaneuf D., Leclerc B., Laframboise R., Tanguay R.M.
    Hum. Mol. Genet. 4:319-320(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TYRSN1 SER-337 AND GLY-381.
  19. "Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1."
    Hahn S.H., Krasnewich D., Brantly M., Kvittingen E.A., Gahl W.A.
    Hum. Mutat. 6:66-73(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 GLY-234.
  20. "Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship."
    Ploos van Amstel J.K., Bergman A.J.I.W., van Beurden E.A.C.M., Roijers J.F.M., Peelen T., van den Berg I.E.T., Poll-The B.T., Kvittingen E.A., Berger R.
    Hum. Genet. 97:51-59(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TYRSN1 ARG-193 AND VAL-369.
  21. "Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries."
    Bergman A.J.I.W., van den Berg I.E.T., Brink W., Poll-The B.T., Ploos van Amstel J.K., Berger R.
    Hum. Mutat. 12:19-26(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TYRSN1 ASP-158; LEU-261; SER-366 DEL AND HIS-405.
  22. Cited for: VARIANT TYRSN1 ARG-279.
  23. "A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation."
    Dreumont N., Poudrier J.A., Bergeron A., Levy H.L., Baklouti F., Tanguay R.M.
    BMC Genet. 2:9-9(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 ARG-279.
  24. "Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1."
    Bergeron A., D'Astous M., Timm D.E., Tanguay R.M.
    J. Biol. Chem. 276:15225-15231(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS TYRSN1 ILE-16; CYS-62; ASP-134; ARG-193; VAL-233; GLY-234; ARG-279 AND TRP-341.
  25. "A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report."
    Cassiman D., Zeevaert R., Holme E., Kvittingen E.A., Jaeken J.
    Orphanet J. Rare Dis. 4:28-28(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYRSN1 THR-35.

Entry informationi

Entry nameiFAAA_HUMAN
AccessioniPrimary (citable) accession number: P16930
Secondary accession number(s): B2R9X1, D3DW95, Q53XA7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1992
Last modified: September 3, 2014
This is version 148 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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