ASS1 E191Q [cytosol]

Stable Identifier
R-HSA-9959123
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
argininosuccinate synthase, argininosuccinic acid synthetase, citrulline-aspartate ligase, Citrulline--aspartate ligase
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
27287393 Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

Diez-Fernandez, C, Wellauer, O, Gemperle, C, Rüfenacht, V, Fingerhut, R, Häberle, J

J Med Genet 2016
19006241 Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

Engel, K, Höhne, W, Häberle, J

Hum Mutat 2009
External Reference Information
External Reference
UniProt:P00966 ASS1
Gene Names
ASS1, ASS
Chain
chain:1-412
Reference Genes
BioGPS Gene:445 ASS1
COSMIC - genes:ASS1 ASS1
CTD Gene:445 ASS1
dbSNP Gene:445 ASS1
ENSEMBL:ENSG00000130707 ASS1
HGNC:758 ASS1
KEGG:hsa:445 ASS1
Monarch:445 ASS1
NCBI Gene:445 ASS1
OMIM:603470 ASS1
UCSC:P00966 ASS1
Reference Transcript
Other Identifiers
11757278_x_at
11758627_s_at
17090296
17090320
207076_PM_s_at
207076_s_at
230406_PM_at
230406_at
2706427
2833834
2945844
3166691
3170069
3191524
3191525
3191527
3191528
3191529
3191530
3191531
3191532
3191533
3191534
3191536
3191538
3191541
3191542
3191543
3191544
3191545
3191546
3191547
3191548
3191549
3191555
3191556
3191557
3191558
3191559
3191560
3191562
3191565
3191569
3191570
3191571
40541_at
445
61856_at
8158671
8158684
A_23_P31921
A_33_P3234580
GE80883
GO:0000050
GO:0000052
GO:0000053
GO:0000166
GO:0001822
GO:0001889
GO:0003723
GO:0004055
GO:0005515
GO:0005524
GO:0005654
GO:0005737
GO:0005739
GO:0005741
GO:0005829
GO:0006520
GO:0006526
GO:0006531
GO:0006575
GO:0006953
GO:0006954
GO:0007494
GO:0007584
GO:0007623
GO:0008652
GO:0009410
GO:0009636
GO:0010043
GO:0010046
GO:0014075
GO:0015643
GO:0016597
GO:0016874
GO:0032355
GO:0032496
GO:0042802
GO:0043025
GO:0043200
GO:0043204
GO:0043434
GO:0045429
GO:0048545
GO:0048856
GO:0051384
GO:0060416
GO:0060539
GO:0070062
GO:0070542
GO:0070852
GO:0071222
GO:0071230
GO:0071242
GO:0071320
GO:0071346
GO:0071356
GO:0071377
GO:0071400
GO:0071418
GO:0071499
GO:0071549
GO:0071941
GO:1903038
HMNXSV003034019
Hs.149119.0.A1_3p_at
ILMN_1688234
ILMN_1708778
ILMN_2395451
PH_hs_0031929
TC09000736.hg
TC09000737.hg
X01630_at
g4557336_3p_a_at
Participates
as a member of
Other forms of this molecule
ASS1 R265C [cytosol]
ASS1 A118T [cytosol]
ASS1 S180N [cytosol]
ASS1 R272C [cytosol]
ASS1 R272H [cytosol]
ASS1 R272L [cytosol]
ASS1 [cytosol]
ASS1 V263M [cytosol]
ASS1 M302V [cytosol]
ASS1 D124N [cytosol]
ASS1 R157H [cytosol]
ASS1 S180I [cytosol]
ASS1 R127Q [cytosol]
ASS1 T119I [cytosol]
ASS1 R157C [cytosol]
ASS1 W179R [cytosol]
ASS1 G324S [cytosol]
ASS1 R304W [cytosol]
ASS1 G362V [cytosol]
ASS1 G390R [cytosol]
ASS1 G14S [cytosol]
ASS1 R86C [cytosol]
ASS1 K310Q [cytosol]
ASS1 R279* [cytosol]
ASS1 S18L [cytosol]
ASS1 T284I [cytosol]
ASS1 Y359D [cytosol]
ASS1 T91P [cytosol]
Modified Residues
Name
L-glutamic acid 191 replaced with L-glutamine removal
Coordinate
191
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
citrullinemia DOID:9273 deficiency of citrulline-aspartate ligase, ASS deficiency
Cross References
RefSeq
ClinGen
OpenTargets
ENSEMBL
Mondo
PRO
GlyGen
PDB
GeneCards
HPA
Pharos - Targets
Orphanet
HMDB Protein
Interactors (3)
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