| Tag | Content |
|---|---|
| Uniprot ID | P16331; Q91WV1; |
| Entrez ID | 18478 |
| Genbank protein ID | AAH13458.1; CAA36205.1; |
| Genbank nucleotide ID | NM_008777.3 |
| Ensembl protein ID | ENSMUSP00000020241 |
| Ensembl nucleotide ID | ENSMUSG00000020051 |
| Gene name | Phenylalanine-4-hydroxylase |
| Gene symbol | Pah |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. |
| Sequence | MAAVVLENGV LSRKLSDFGQ ETSYIEDNSN QNGAVSLIFS LKEEVGALAK VLRLFEENEI 60 NLTHIESRPS RLNKDEYEFF TYLDKRSKPV LGSIIKSLRN DIGATVHELS RDKEKNTVPW 120 FPRTIQELDR FANQILSYGA ELDADHPGFK DPVYRARRKQ FADIAYNYRH GQPIPRVEYT 180 EEERKTWGTV FRTLKALYKT HACYEHNHIF PLLEKYCGFR EDNIPQLEDV SQFLQTCTGF 240 RLRPVAGLLS SRDFLGGLAF RVFHCTQYIR HGSKPMYTPE PDICHELLGH VPLFSDRSFA 300 QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKEGDSI KAYGAGLLSS FGELQYCLSD 360 KPKLLPLELE KTACQEYTVT EFQPLYYVAE SFNDAKEKVR TFAATIPRPF SVRYDPYTQR 420 VEVLDNTQQL KILADSINSE VGILCHALQK IKS 453 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | PAH | 510583 | Q2KIH7 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | PAH | F6XY00 | Canis lupus familiaris | Prediction | More>> | |||
| 1:1 ortholog | PAH | A0A452F3X2 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | PAH | 5053 | P00439 | CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Pah | 18478 | P16331 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | PAH | A0A2I3SWI0 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | PAH | F1SRJ8 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | PAH | 100354678 | G1T8B6 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Pah | 24616 | Q6AYW2 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | pah | Q7SYH6 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004505 | phenylalanine 4-monooxygenase activity | ISO |
| GO:0004505 | phenylalanine 4-monooxygenase activity | IBA |
| GO:0004505 | phenylalanine 4-monooxygenase activity | IMP |
| GO:0005506 | iron ion binding | ISO |
| GO:0016597 | amino acid binding | ISO |
| GO:0042802 | identical protein binding | ISO |
| GO:0048037 | cofactor binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006558 | L-phenylalanine metabolic process | ISO |
| GO:0006559 | L-phenylalanine catabolic process | IEA |
| GO:0006571 | tyrosine biosynthetic process | ISO |
| GO:0006571 | tyrosine biosynthetic process | IBA |
| GO:0018126 | protein hydroxylation | ISO |
| GO:0042558 | pteridine-containing compound metabolic process | ISO |
| GO:0046146 | tetrahydrobiopterin metabolic process | ISO |
| GO:0055114 | oxidation-reduction process | IEA |
| GO ID | GO Term | Evidence |
|---|
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1430728 | Metabolism | IEA |
| R-MMU-71291 | Metabolism of amino acids and derivatives | IEA |
| R-MMU-8963691 | Phenylalanine and tyrosine metabolism | IEA |
| R-MMU-8964208 | Phenylalanine metabolism | IEA |