Gene: PAH

Basic information

Tag Content
Uniprot ID F6XY00
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID ENSCAFP00000010860
Ensembl nucleotide ID ENSCAFG00000007310
Gene name Phenylalanine hydroxylase
Gene symbol PAH
Organism Canis lupus familiaris
NCBI taxa ID 9615
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MISCKACHLS RAEARSNALQ RTHSPRPAVL GWPAPPNPGG CGEPQLRAEL AARLGLPSRA 60
RSTLPSPRGG PSAALHPCVR TTPTGGRCHG HPWNLSSPPA PGLKPQQHVS PAELPATKAP 120
AVGTRCTGAG MSAEVLEHRG SGSKLSDGQE TSYIEDNSNQ NGAISLIFSL KEEIGALAKV 180
LRLFEENDIN LTHIESRPSR LKKDEYEFFT YLDKRSMPVL GNIIKILRHD IGATVHELSR 240
DKKKDTVPWF PRTIQELDRF ANQILSYGAE LDADHPGFKD PVYRARRKQF ADIAYNYRHG 300
QPIPQVEYTE EEKKTWGTVF RTLKSLYKTH ACYEHNHIFP LLEKYCGFRE DNIPQLEEVS 360
QFLQTCTGFR LRPVAGLLSS RDFLGGLAFR VFHCTQYIRH GSKPMYTPEP DICHELLGHV 420
PLFSDRSFAQ FSQEIGLASL GAPDEYIEKL ATIYWFTVEF GLCKQGDSIK AYGAGLLSSF 480
GELQYCLSDK PKLLPLELEK TAIQEYTVTE FQPLYYVAES FNDAKEKVRN FAATIPRPFS 540
VRYDPYTQRI EVLDNTQQLK ILADSINSEV GILCSALQKI K 581

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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPAH510583Q2KIH7Bos taurusPredictionMore>>
1:1 orthologPAHF6XY00Canis lupus familiarisPredictionMore>>
1:1 orthologPAHA0A452F3X2Capra hircusPredictionMore>>
1:1 orthologPAH5053P00439CL/PHomo sapiensPublicationMore>>
1:1 orthologPah18478P16331Mus musculusPredictionMore>>
1:1 orthologPAHA0A2I3SWI0Pan troglodytesPredictionMore>>
1:1 orthologPAHF1SRJ8Sus scrofaPredictionMore>>
1:1 orthologPAH100354678G1T8B6Oryctolagus cuniculusPredictionMore>>
1:1 orthologPah24616Q6AYW2Rattus norvegicusPredictionMore>>
1:1 orthologpahQ7SYH6Danio rerioPredictionMore>>

Gene ontology

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

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0408 Iron
KW-0479 Metal-binding
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR002912 ACT_dom
IPR001273 ArAA_hydroxylase
IPR018301 ArAA_hydroxylase_Fe/CU_BS
IPR036951 ArAA_hydroxylase_sf
IPR036329 Aro-AA_hydroxylase_C_sf
IPR019774 Aromatic-AA_hydroxylase_C
IPR041912 Euk_PheOH_cat
IPR005961 Phe-4-hydroxylase_tetra
IPR019773 Tyrosine_3-monooxygenase-like

PROSITE

PROSITE ID PROSITE Term
PS51671 ACT
PS00367 BH4_AAA_HYDROXYL_1
PS51410 BH4_AAA_HYDROXYL_2

Pfam

Pfam ID Pfam Term
PF01842 ACT
PF00351 Biopterin_H