ACY1 P369Hfs*47

Stable Identifier
R-HSA-5579105
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Aminoacylase-1, ACY1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ACY1
Chain
chain:1-408
Other Identifiers
0000110161
00220+3.5.1.14
11725891_a_at
11750230_a_at
1Q7L
202740_at
2623442
2623444
2623446
2623447
2623448
2623449
2623450
2623452
2623453
2623454
2623456
2623457
2623459
2623460
2623463
2623464
2623466
2623467
2623468
2623469
36174
36175
3695
37713_at
8080168
95
A_23_P57868
ACY1
ACY1-201
ACY1-206
ACY1-207
ACY1-210
ACY1-215
CAB003695
CCDS2844
CCDS56261
CCDS56262
CCDS56263
ENSG00000243989
ENSP00000384296
ENSP00000417056
ENSP00000417618
ENSP00000419262
ENSP00000490149
ENST00000404366
ENST00000476351
ENST00000476854
ENST00000494103
ENST00000636358
EntrezGene:95
g4501900_3p_at
GE57578
GO:0004046
GO:0005515
GO:0005737
GO:0005829
GO:0006508
GO:0006520
GO:0006805
GO:0008152
GO:0008237
GO:0016787
GO:0042802
GO:0046872
GO:0070062
HGNC:177
HPA036174
HPA036175
ILMN_1683883
L07548_at
MIM:104620
MIM:609924
NM_000666
NM_001198895
NM_001198896
NM_001198897
NM_001198898
NP_000657
NP_001185824
NP_001185825
NP_001185826
NP_001185827
PF01546
PF07687
PH_hs_0016467
TC03002341.hg
TC03003358.hg
uc003dcp.4
uc021wzb.2
uc021wzc.2
uc021wzd.2
UPI00001254AD
UPI0000D6DD9F
UPI0000E1FCFE
UPI0001B795A5
V9HWA0
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 369 to 414 by HLCCCTTTMNGCMRLCSSVGWTYIHACCLPLPVCLPCPVTAEPWNS
Disease
Name Identifier Synonyms
toxic encephalopathy 3602 Neurotoxicity (disorder), neurotoxicity, neurotoxicity syndrome, neurotoxicity
Cross References
Brenda
GeneCards
DOCK Blaster
PRO
Orphanet
PDB
HMDB Protein