Q2KIH7
Gene name |
PAH |
Protein name |
Phenylalanine-4-hydroxylase |
Names |
PAH , EC 1.14.16.1 , Phe-4-monooxygenase |
Species |
Bos taurus (Bovine) |
KEGG Pathway |
bta:510583 |
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 |
118-423 (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 Q2KIH7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q2KIH7-F1 | Predicted | AlphaFoldDB |
39 variants for Q2KIH7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs460395416 | 3 | A>D | No | EVA | |
| rs440336504 | 14 | K>N | No | EVA | |
| rs471881379 | 16 | S>G | No | EVA | |
| rs444482965 | 18 | F>L | No | EVA | |
| rs453444454 | 66 | S>* | No | EVA | |
| rs442606554 | 74 | D>E | No | EVA | |
| rs473788699 | 77 | E>* | No | EVA | |
| rs516659768 | 87 | V>M | No | EVA | |
| rs471244895 | 105 | V>A | No | EVA | |
| rs457333805 | 113 | K>M | No | EVA | |
| rs437232734 | 114 | K>E | No | EVA | |
| rs468564322 | 115 | D>E | No | EVA | |
| rs448510975 | 116 | T>P | No | EVA | |
| rs465199153 | 122 | R>S | No | EVA | |
| rs445155744 | 136 | S>R | No | EVA | |
| rs483057712 | 138 | G>A | No | EVA | |
| rs463058223 | 139 | A>P | No | EVA | |
| rs442890295 | 141 | L>M | No | EVA | |
| rs480507647 | 141 | L>R | No | EVA | |
| rs440355711 | 142 | D>Y | No | EVA | |
| rs471646477 | 145 | H>P | No | EVA | |
| rs445106536 | 170 | G>V | No | EVA | |
| rs455699473 | 180 | E>Q | No | EVA | |
| rs453313286 | 190 | F>L | No | EVA | |
| rs384308180 | 216 | C>R | No | EVA | |
| rs464311418 | 222 | N>S | No | EVA | |
| rs524991480 | 269 | R>S | No | EVA | |
| rs522187736 | 269 | R>T | No | EVA | |
| rs525501101 | 275 | M>T | No | EVA | |
| rs432953124 | 334 | K>E | No | EVA | |
| rs437431305 | 355 | Y>N | No | EVA | |
| rs468754837 | 360 | K>* | No | EVA | |
| rs474134966 | 371 | T>M | No | EVA | |
| rs466412969 | 375 | E>* | No | EVA | |
| rs466412969 | 375 | E>Q | No | EVA | |
| rs446034277 | 395 | K>N | No | EVA | |
| rs477206752 | 396 | E>A | No | EVA | |
| rs463730386 | 398 | V>G | No | EVA | |
| rs450055813 | 399 | R>G | No | EVA |
No associated diseases with Q2KIH7
4 regional properties for Q2KIH7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ACT domain | 35 - 113 | IPR002912 |
| binding_site | Aromatic amino acid hydroxylase, iron/copper binding site | 280 - 291 | IPR018301 |
| domain | Aromatic amino acid hydroxylase, C-terminal | 105 - 451 | IPR019774 |
| domain | Eukaryotic phenylalanine-4-hydroxylase, catalytic domain | 118 - 423 | 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 |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| iron ion binding | Binding to an iron (Fe) ion. |
| phenylalanine 4-monooxygenase activity | Catalysis of the reaction |
2 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. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17289 | TH | Tyrosine 3-monooxygenase | Bos taurus (Bovine) | PR |
| P00439 | PAH | Phenylalanine-4-hydroxylase | Homo sapiens (Human) | SS |
| P16331 | Pah | Phenylalanine-4-hydroxylase | Mus musculus (Mouse) | SS |
| P04176 | Pah | Phenylalanine-4-hydroxylase | Rattus norvegicus (Rat) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSALVLESRA | LGRKLSDFGQ | ETSYIEGNSD | QNAVSLIFSL | KEEVGALARV | LRLFEENDIN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTHIESRPSR | LRKDEYEFFT | NLDQRSVPAL | ANIIKILRHD | IGATVHELSR | DKKKDTVPWF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRTIQELDNF | ANQVLSYGAE | LDADHPGFKD | PVYRARRKQF | ADIAYNYRHG | QPIPRVEYTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEKKTWGTVF | RTLKSLYKTH | ACYEHNHIFP | LLEKYCGFRE | DNIPQLEEVS | QFLQSCTGFR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LRPVAGLLSS | RDFLGGLAFR | VFHCTQYIRH | GSKPMYTPEP | DICHELLGHV | PLFSDRSFAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FSQEIGLASL | GAPDEYIEKL | ATIYWFTVEF | GLCKQGDSIK | AYGAGLLSSF | GELQYCLSDK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PKLLPLELEK | TAVQEYTITE | FQPLYYVAES | FNDAKEKVRN | FAATIPRPFS | VHYDPYTQRI |
| 430 | 440 | 450 | |||
| EVLDNTQQLK | ILADSISSEV | EILCSALQKL | K |