PAH S40L [cytosol]

Stable Identifier
R-HSA-5649486
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
phenylalanine hydroxylase apoprotein monomer, phenylalanine-4-hydroxylase, PH4H_HUMAN, Phenylalanine-4-hydroxylase , Phe-4- monooxygenase
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
PAH
Chain
chain:1-452
Reference Transcript
Other Identifiers
0000630162
11744206_at
11753066_a_at
205719_s_at
217583_at
242375_x_at
33701_at
3468477
3468478
3468479
3468480
3468481
3468482
3468483
3468484
3468486
3468492
3468493
3468494
3468497
3468501
3468504
3468506
3468511
3468522
3468531
3468533
3468534
4052199
4053738
5053
7965884
82891_at
A_23_P2501
A_32_P226169
GE59205
GO:0003674
GO:0003824
GO:0004497
GO:0004505
GO:0005506
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0006520
GO:0006559
GO:0006571
GO:0008150
GO:0008152
GO:0008652
GO:0009056
GO:0009058
GO:0009072
GO:0016491
GO:0016714
GO:0042136
GO:0042423
GO:0043167
GO:0044281
GO:0046872
GO:0055114
Hs.297257.0.A1_3p_at
ILMN_1662214
ILMN_1824490
ILMN_2218104
L47726_at
PH_hs_0023809
TC12001892.hg
g4557818_3p_s_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-serine 40 replaced with L-leucine
Coordinate
40
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-leucine.
A protein modification that effectively removes or replaces an L-serine.
Disease
Name Identifier Synonyms
phenylketonuria 9281 PKU, maternal phenylketonuria, Følling's disease, phenylalaninemia
Cross References
RefSeq
OpenTargets
ZINC - Substances
ZINC target
PRO
IntEnz
GeneCards
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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