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ACY1 R353C [cytosol]
Stable Identifier
R-HSA-5579111
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Aminoacylase-1, ACY1_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective ACY1 causes encephalopathy (Homo sapiens)
Defective ACY1 does not hydrolyse mercapturic acids (Homo sapiens)
ACY1 mutants:Zn2+ dimer [cytosol] (Homo sapiens)
ACY1 mutants [cytosol] (Homo sapiens)
ACY1 R353C [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q03154 ACY1
Gene Names
ACY1
Chain
chain:1-408
Reference Genes
BioGPS Gene:95 ACY1
COSMIC (genes):ACY1 ACY1
CTD Gene:95 ACY1
dbSNP Gene:95 ACY1
ENSEMBL:ENSG00000243989 ACY1
HGNC:177 ACY1
KEGG:hsa:95 ACY1
Monarch:95 ACY1
NCBI Gene:95 ACY1
OMIM:104620 ACY1
UCSC:Q03154 ACY1
Reference Transcript
RefSeq:NM_001198897.1 ACY1
RefSeq:NM_001198896.1 ACY1
RefSeq:NM_001198898.1 ACY1
RefSeq:NM_000666.2 ACY1
RefSeq:NM_001198895.1 ACY1
Other Identifiers
11725891_a_at
11750230_a_at
11761861_at
11761880_at
202740_PM_at
202740_at
2623442
2623443
2623444
2623445
2623446
2623447
2623448
2623449
2623450
2623451
2623452
2623453
2623454
2623455
2623456
2623457
2623458
2623459
2623460
2623461
2623462
2623463
2623464
2623465
2623466
2623467
2623468
2623469
37713_at
8080168
95
A_14_P121665
A_23_P57868
GE57578
GO:0003824
GO:0004046
GO:0005515
GO:0005737
GO:0005829
GO:0006520
GO:0016787
GO:0042802
GO:0043226
GO:0046872
GO:0070062
HMNXSV003024435
ILMN_1683883
L07548_at
PH_hs_0016467
TC03002341.hg
TC03003358.hg
g4501900_3p_at
Participates
as a member of
ACY1 mutants [cytosol] (Homo sapiens)
Other forms of this molecule
ACY1 R393H [cytosol]
ACY1 E233D [cytosol]
ACY1 R197W [cytosol]
ACY1 P369Hfs*47 [cytosol]
ACY1 [cytosol]
Modified Residues
Name
L-arginine 353 replaced with L-cysteine
Coordinate
353
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
toxic encephalopathy
DOID:3602
Neurotoxicity (disorder), neurotoxicity, neurotoxicity syndrome, neurotoxicity
Cross References
ENSEMBL
ENSP00000490149
,
ENST00000476854
,
ENST00000494103
,
ENST00000476351
,
ENSP00000417056
,
ENST00000404366
,
ENST00000636358
,
ENSP00000384296
,
ENSP00000417618
,
ENSP00000419262
OpenTargets
ENSG00000243989
HPA
ENSG00000243989-ACY1
PRO
Q03154
Pharos - Targets
Q03154
GlyGen
Q03154
Orphanet
ACY1
HMDB Protein
HMDBP00554
PDB
1Q7L
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9Y570 PPME1
1
PPME1 [nucleoplasm]
(R-HSA-8857790)
0.527
2
UniProt:P55735 SEC13
4
SEC13 [lysosomal membrane]
(R-HSA-9638246)
SEC13 [endoplasmic reticulum membrane]
(R-HSA-203994)
SEC13 [ER to Golgi transport vesicle membrane]
(R-HSA-204012)
SEC13 [cytosol]
(R-HSA-203981)
0.527
5
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