ASL R456W [cytosol]

Stable Identifier
R-HSA-9959361
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
argininosuccinate lyase, arginosuccinase
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
17326097 Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene

Trevisson, E, Salviati, L, Baldoin, MC, Toldo, I, Casarin, A, Sacconi, S, Cesaro, L, Basso, G, Burlina, AB

Hum Mutat 2007
19703900 Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations

Trevisson, E, Burlina, A, Doimo, M, Pertegato, V, Casarin, A, Cesaro, L, Navas, P, Basso, G, Sartori, G, Salviati, L

J Biol Chem 2009
External Reference Information
External Reference
UniProt:P04424 ASL
Gene Names
ASL
Chain
initiator methionine:1, chain:2-464
Reference Genes
BioGPS Gene:435 ASL
COSMIC - genes:ASL ASL
CTD Gene:435 ASL
dbSNP Gene:435 ASL
ENSEMBL:ENSG00000126522 ASL
HGNC:746 ASL
KEGG:hsa:435 ASL
Monarch:435 ASL
NCBI Gene:435 ASL
OMIM:608310 ASL
UCSC:P04424 ASL
Reference Transcript
Other Identifiers
11720822_a_at
11740232_x_at
11742937_x_at
11746742_a_at
11760562_at
17046601
204608_PM_at
204608_at
3005364
3005365
3005366
3005367
3005368
3005372
3005373
3005374
3005375
3005376
3005377
3005378
3005379
3005380
3005381
3005382
3005383
3005385
3005386
3005387
3005388
3005389
3005390
3005391
3005392
3005393
3005394
3005395
3005396
3005397
3005399
3005401
3005403
3005404
3005405
3005406
3005407
3005408
3005409
3005410
3005411
3005417
3052703
36528_at
435
8133122
89775_r_at
A_23_P26223
GE57826
GO:0000050
GO:0003824
GO:0004056
GO:0005515
GO:0005737
GO:0005829
GO:0006520
GO:0006525
GO:0006526
GO:0007626
GO:0008652
GO:0009791
GO:0016829
GO:0019676
GO:0042450
GO:0042802
GO:0045429
GO:0070062
GO:0071941
GO:0170033
HMNXSV003015004
ILMN_1685037
ILMN_1685142
ILMN_2379393
M14218_at
PH_hs_0025846
PH_hs_0033478
TC07003307.hg
g4502256_3p_at
Participates
as a candidate of
Other forms of this molecule
ASL [cytosol]
ASL A398D [cytosol]
ASL Q354* [cytosol]
ASL E73K [cytosol]
ASL R182Q [cytosol]
ASL M360T [cytosol]
ASL D237N [cytosol]
ASL R297Q [cytosol]
ASL R113Q [cytosol]
ASL M382R [cytosol]
ASL D87G [cytosol]
ASL R236W [cytosol]
ASL R186Q [cytosol]
ASL R95C [cytosol]
ASL V335L [cytosol]
ASL Q286R [cytosol]
ASL V178M [cytosol]
ASL R385C [cytosol]
ASL R12Q [cytosol]
ASL D31N [cytosol]
ASL R379C [cytosol]
Modified Residues
Name
L-arginine 456 replaced with L-tryptophan
Coordinate
456
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
argininosuccinic aciduria DOID:14755 arginosuccinase deficiency, Argininosuccinate lyase deficiency, deficiency of argininosuccinate lyase, argininosuccinic acidemia
Cross References
RefSeq
ClinGen
OpenTargets
ENSEMBL
Mondo
GeneCards
ASL
HPA
PRO
Pharos - Targets
Orphanet
ASL
HMDB Protein
PDB
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