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
11744206_at
11753066_a_at
11762826_at
16769270
205719_PM_s_at
205719_s_at
217583_PM_at
217583_at
242375_PM_x_at
242375_x_at
33701_at
3468477
3468478
3468479
3468480
3468481
3468482
3468483
3468484
3468485
3468486
3468492
3468493
3468494
3468495
3468497
3468498
3468501
3468502
3468503
3468504
3468506
3468510
3468511
3468522
3468531
3468532
3468533
3468534
3468535
3468541
3468549
3468563
3468564
3468565
3468566
4052199
4052253
4053714
4053716
4053717
4053718
4053738
42519_at
5053
7965884
82891_at
A_21_P0007889
A_23_P2501
A_32_P226169
GE59205
GO:0003824
GO:0004497
GO:0004505
GO:0005506
GO:0005829
GO:0006520
GO:0006559
GO:0006571
GO:0008652
GO:0009072
GO:0016491
GO:0016714
GO:0019293
GO:0042423
GO:0046872
HMNXSV003030020
HMNXSV003038266
HMNXSV003045436
Hs.297257.0.A1_3p_at
ILMN_1662214
ILMN_1824490
ILMN_2218104
L47726_at
PH_hs_0023809
TC12001892.hg
TC12003049.hg
g4557818_3p_s_at
p18681
Participates
Other forms of this molecule
Modified Residues
Name
L-serine 40 replaced with L-leucine
Coordinate
40
PsiMod
A protein modification that effectively removes or replaces an L-serine.
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name Identifier Synonyms
phenylketonuria DOID:9281 PKU, maternal phenylketonuria, Følling's disease, phenylalaninemia
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ZINC - Substances
ZINC target
PRO
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
PAH
HMDB Protein
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