| Tag | Content |
|---|---|
| Uniprot ID | Q2KIH7; A5D9G6; |
| Entrez ID | 510583 |
| Genbank protein ID | ABQ13025.1; AAI12634.1; |
| Genbank nucleotide ID | NM_001046058.2 |
| Ensembl protein ID | ENSBTAP00000065971 |
| Ensembl nucleotide ID | ENSBTAG00000012794 |
| Gene name | Phenylalanine-4-hydroxylase |
| Gene symbol | PAH |
| Organism | Bos taurus |
| NCBI taxa ID | 9913 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. |
| Sequence | MSALVLESRA LGRKLSDFGQ ETSYIEGNSD QNAVSLIFSL KEEVGALARV LRLFEENDIN 60 LTHIESRPSR LRKDEYEFFT NLDQRSVPAL ANIIKILRHD IGATVHELSR DKKKDTVPWF 120 PRTIQELDNF ANQVLSYGAE LDADHPGFKD PVYRARRKQF ADIAYNYRHG QPIPRVEYTE 180 EEKKTWGTVF RTLKSLYKTH ACYEHNHIFP LLEKYCGFRE DNIPQLEEVS QFLQSCTGFR 240 LRPVAGLLSS RDFLGGLAFR VFHCTQYIRH GSKPMYTPEP DICHELLGHV PLFSDRSFAQ 300 FSQEIGLASL GAPDEYIEKL ATIYWFTVEF GLCKQGDSIK AYGAGLLSSF GELQYCLSDK 360 PKLLPLELEK TAVQEYTITE FQPLYYVAES FNDAKEKVRN FAATIPRPFS VHYDPYTQRI 420 EVLDNTQQLK ILADSISSEV EILCSALQKL K 451 |
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 |
|---|---|
| GO:0005506 | iron ion binding |
| GO:0004505 | phenylalanine 4-monooxygenase activity |
| GO:0006559 | L-phenylalanine catabolic process |
| GO:0006571 | tyrosine biosynthetic process |