Gene: PAH

Basic information

Tag Content
Uniprot ID G1T8B6
Entrez ID 100354678
Genbank protein ID
Genbank nucleotide ID XM_002711296.3
Ensembl protein ID ENSOCUP00000012803
Ensembl nucleotide ID ENSOCUG00000014890
Gene name Phenylalanine hydroxylase
Gene symbol PAH
Organism Oryctolagus cuniculus
NCBI taxa ID 9986
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MSAVVLENGG LSRKFSDFGQ ETSYIEDNSN ENSAISLIFS LKEEVGALAK VLRLFEENDI 60
NLTHIESRPS RLKKDEYEFF TYLDKRSMPA LEDIIQILRH DIGATVHELS RDKKKDTVPW 120
FPRTIQELDR FANQILSYGA ELDADHPGFK DPVYRARRKQ FADIAYNYRH GQPIPRVEYT 180
EEEKKTWGTV FKTLKSLYKT HACYEYNHIF PLLEKYCGFR EDNIPQLEDV SQFLQTCTGF 240
RLRPVAGLLS SRDFLGGLAF RVFHCTQYIR HGSKPMFTPE PDICHELLGH VPLFSDRSFA 300
QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKQGDSI KAYGAGLLSS FGELQYCLSG 360
KPKLLPLELE KTAIQEYPVT EFQPLYYVAE SFMDAKEKVR NFAATIPRPF SVRYDPYTQR 420
IEILDNTQQL KILADSINSE VGILCNALQK NKSEAIYRIG LSTDHC 466

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

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