| Identification |
|---|
| HMDB Protein ID
| CDBP00677 |
| Secondary Accession Numbers
| Not Available |
| Name
| Fumarylacetoacetase |
| Description
| Not Available |
| Synonyms
|
- Beta-diketonase
- FAA
- Fumarylacetoacetate hydrolase
|
| Gene Name
| FAH |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in fumarylacetoacetase activity |
| Specific Function
| Not Available |
| GO Classification
|
| Biological Process |
| L-phenylalanine catabolic process |
| tyrosine catabolic process |
| cellular nitrogen compound metabolic process |
| arginine catabolic process |
| Cellular Component |
| cytosol |
| Function |
| catalytic activity |
| hydrolase activity |
| hydrolase activity, acting on acid carbon-carbon bonds |
| hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances |
| fumarylacetoacetase activity |
| Molecular Function |
| metal ion binding |
| fumarylacetoacetase activity |
| Process |
| metabolic process |
| cellular metabolic process |
| cellular amino acid and derivative metabolic process |
| cellular amino acid metabolic process |
| aromatic amino acid family metabolic process |
|
| Cellular Location
|
- Cytoplasmic
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | L-phenylalanine degradation | Not Available | Not Available | | Phenylalanine and Tyrosine Metabolism |    |  | | Phenylketonuria |    | Not Available | | Tyrosinemia Type 2 (or Richner-Hanhart syndrome) |    | Not Available | | Tyrosinemia Type 3 (TYRO3) |    | Not Available |
|
| Gene Properties |
|---|
| Chromosome Location
| 15 |
| Locus
| 15q25.1 |
| SNPs
| FAH |
| Gene Sequence
|
>1260 bp
ATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGC
GTCTTCTCGACCAGAGGCGACCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATC
CTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGAT
GTCTTCAATCAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAG
GCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACC
GAACTTCGGAAGTGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACC
ATAGGAGACTACACAGACTTCTATTCCTCTCGGCAGCATGCTACCAACGTCGGAATCATG
TTCAGGGACAAGGAGAATGCGTTGATGCCAAATTGGCTGCACTTACCAGTGGGCTACCAT
GGCCGTGCCTCCTCTGTCGTGGTGTCTGGCACCCCAATCCGAAGGCCCATGGGACAGATG
AAACCTGATGACTCTAAGCCTCCCGTATATGGTGCCTGCAAGCTCTTGGACATGGAGCTG
GAAATGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAG
GCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGCACGAGACATTCAG
AAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCT
CCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGAC
CCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCT
GTTAACCTGAAAGGAGAAGGAATGAGCCAGGCGGCTACCATATGCAAGTCCAATTTTAAG
TACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTG
CGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGAGCCAGAAAACTTCGGC
TCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACC
AGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGGTACTGCCAGGGGGATGGT
TACCGCATCGGCTTTGGCCAGTGTGCTGGAAAAGTGCTGCCTGCTCTCCTGCCATCATGA
|
| Protein Properties |
|---|
| Number of Residues
| 419 |
| Molecular Weight
| 46373.97 |
| Theoretical pI
| 6.943 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Fumarylacetoacetase
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQD
VFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPAT
IGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQM
KPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
SMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS
|
| External Links |
|---|
| GenBank ID Protein
| 182393 |
| UniProtKB/Swiss-Prot ID
| P16930 |
| UniProtKB/Swiss-Prot Entry Name
| FAAA_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| M55150 |
| GeneCard ID
| FAH |
| GenAtlas ID
| FAH |
| HGNC ID
| HGNC:3579 |
| References |
|---|
| General References
| Not Available |