P16331
Gene name |
Pah |
Protein name |
Phenylalanine-4-hydroxylase |
Names |
PAH , EC 1.14.16.1 , Phe-4-monooxygenase |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:18478 |
EC number |
1.14.16.1: With reduced pteridine as one donor, and incorporation of one atom of oxygen |
Protein Class |
|
Descriptions
Autoinhibitory domains (AIDs)
Target domain |
119-424 (Catalytic domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Arturo EC et al. (2016) "First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer", Proceedings of the National Academy of Sciences of the United States of America, 113, 2394-9
- Daubner SC et al. (1997) "Characterization of chimeric pterin-dependent hydroxylases: contributions of the regulatory domains of tyrosine and phenylalanine hydroxylase to substrate specificity", Biochemistry, 36, 11574-82
Autoinhibited structure
Activated structure
1 structures for P16331
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P16331-F1 | Predicted | AlphaFoldDB |
12 variants for P16331
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389087099 | 61 | N>K | No | EVA | |
| rs3389119629 | 124 | T>S | No | EVA | |
| rs3401193653 | 136 | L>QSPGLTGWSASSSAP* | No | EVA | |
| rs3389097777 | 163 | D>N | No | EVA | |
| rs3389087106 | 270 | R>W | No | EVA | |
| rs3389122194 | 276 | M>I | No | EVA | |
| rs3389107792 | 333 | L>V | No | EVA | |
| rs36599815 | 338 | D>E | No | EVA | |
| rs3389107748 | 344 | G>S | No | EVA | |
| rs217549350 | 372 | T>I | No | EVA | |
| rs3389087157 | 422 | E>D | No | EVA | |
| rs3389126788 | 437 | I>F | No | EVA |
No associated diseases with P16331
4 regional properties for P16331
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ACT domain | 36 - 114 | IPR002912 |
| binding_site | Aromatic amino acid hydroxylase, iron/copper binding site | 281 - 292 | IPR018301 |
| domain | Aromatic amino acid hydroxylase, C-terminal | 106 - 452 | IPR019774 |
| domain | Eukaryotic phenylalanine-4-hydroxylase, catalytic domain | 119 - 424 | IPR041912 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.16.1 | With reduced pteridine as one donor, and incorporation of one atom of oxygen |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid binding | Binding to an amino acid, organic acids containing one or more amino substituents. |
| identical protein binding | Binding to an identical protein or proteins. |
| iron ion binding | Binding to an iron (Fe) ion. |
| phenylalanine 4-monooxygenase activity | Catalysis of the reaction |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| L-phenylalanine catabolic process | The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid. |
| L-phenylalanine metabolic process | The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. |
| tyrosine biosynthetic process | The chemical reactions and pathways resulting in the formation of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. |
| tyrosine biosynthetic process, by oxidation of phenylalanine | The conversion of phenylalanine to tyrosine. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17289 | TH | Tyrosine 3-monooxygenase | Bos taurus (Bovine) | PR |
| Q2KIH7 | PAH | Phenylalanine-4-hydroxylase | Bos taurus (Bovine) | SS |
| P00439 | PAH | Phenylalanine-4-hydroxylase | Homo sapiens (Human) | SS |
| P04176 | Pah | Phenylalanine-4-hydroxylase | Rattus norvegicus (Rat) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVVLENGV | LSRKLSDFGQ | ETSYIEDNSN | QNGAVSLIFS | LKEEVGALAK | VLRLFEENEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NLTHIESRPS | RLNKDEYEFF | TYLDKRSKPV | LGSIIKSLRN | DIGATVHELS | RDKEKNTVPW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FPRTIQELDR | FANQILSYGA | ELDADHPGFK | DPVYRARRKQ | FADIAYNYRH | GQPIPRVEYT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEERKTWGTV | FRTLKALYKT | HACYEHNHIF | PLLEKYCGFR | EDNIPQLEDV | SQFLQTCTGF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RLRPVAGLLS | SRDFLGGLAF | RVFHCTQYIR | HGSKPMYTPE | PDICHELLGH | VPLFSDRSFA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QFSQEIGLAS | LGAPDEYIEK | LATIYWFTVE | FGLCKEGDSI | KAYGAGLLSS | FGELQYCLSD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KPKLLPLELE | KTACQEYTVT | EFQPLYYVAE | SFNDAKEKVR | TFAATIPRPF | SVRYDPYTQR |
| 430 | 440 | 450 | |||
| VEVLDNTQQL | KILADSINSE | VGILCHALQK | IKS |