PAH S40L

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
00360+1.14.16.1
00400+1.14.16.1
00790+1.14.16.1
11744206_at
11753066_a_at
1DMW
1J8T
1J8U
1KW0
1LRM
1MMK
1MMT
1PAH
1TDW
1TG2
205719_s_at
217583_at
242375_x_at
28407
2PAH
31642
33701_at
3468478
3468479
3468480
3468481
3468482
3468483
3468484
3468486
3468492
3468493
3468494
3468497
3468501
3468504
3468506
3468511
3468522
3468531
3468533
3468534
3468535
3PAH
4052199
4053738
4ANP
4PAH
5053
5FII
5PAH
6PAH
7965884
82891_at
A0A024RBG4
A_23_P2501
A_32_P226169
AAA60082
AAC51772
AAD13926
AAH26251
BC026251
CCDS9092
CH471054
EAW97700
EAW97701
EAW97702
ENSG00000171759
ENSP00000448059
ENST00000553106
EntrezGene:5053
g4557818_3p_s_at
GE59205
GO:0003674
GO:0003824
GO:0004497
GO:0004505
GO:0005506
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0006520
GO:0006559
GO:0008150
GO:0008152
GO:0008652
GO:0009056
GO:0009058
GO:0009072
GO:0016491
GO:0016714
GO:0042136
GO:0042423
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0055114
GO:0070062
HGNC:8582
HPA028407
HPA031642
Hs.297257.0.A1_3p_at
ILMN_1662214
ILMN_1824490
ILMN_2218104
IPR001273
IPR002912
IPR005961
IPR018301
IPR019773
IPR019774
IPR036329
IPR036951
K03020
L47726_at
MIM:261600
MIM:612349
NM_000277
NM_001354304
NP_000268
NP_001341233
PAH
PAH-215
PF00351
PF01842
PH_hs_0023809
PR00372
S61296
TC12001892.hg
U49897
uc001tjq.2
UPI00001318A0
Other forms of this molecule
Modified Residues
Name
L-serine 40 replaced with L-leucine
Coordinate
40
PsiMod HEY
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
ZINC - Substances
GeneCards
DOCK Blaster
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein