CPS1 G911V [mitochondrial matrix]

Stable Identifier
R-HSA-9955394
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
carbamoyl-phosphate synthetase I, carbamoyl-phosphate synthase (ammonia), mitochondrial, CPSase I
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
16737834 The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

Eeds, AM, Hall, LD, Yadav, M, Willis, A, Summar, S, Putnam, A, Barr, F, Summar, ML

Mol Genet Metab 2006
24813853 Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function

Diez-Fernandez, C, Hu, L, Cervera, J, Häberle, J, Rubio, V

Mol Genet Metab 2014
External Reference Information
External Reference
UniProt:P31327 CPS1
Gene Names
CPS1
Chain
transit peptide:1-38, chain:39-1500
Reference Genes
BioGPS Gene:1373 CPS1
COSMIC - genes:CPS1 CPS1
CTD Gene:1373 CPS1
dbSNP Gene:1373 CPS1
ENSEMBL:ENSG00000021826 CPS1
HGNC:2323 CPS1
KEGG:hsa:1373 CPS1
Monarch:1373 CPS1
NCBI Gene:1373 CPS1
OMIM:608307 CPS1
UCSC:P31327 CPS1
Reference Transcript
Other Identifiers
11721219_a_at
11741247_a_at
11755015_s_at
1373
16890347
204920_PM_at
204920_at
217564_PM_s_at
217564_s_at
2525990
2525995
2525996
2526000
2526003
2526004
2526012
2526013
2526015
2526016
2526017
2526018
2526019
2526020
2526022
2526024
2526025
2526027
2526028
2526029
2526030
2526031
2526033
2526034
2526036
2526038
2526039
2526040
2526041
2526042
2526043
2526050
2526051
2526052
2526054
2526055
2526056
2526057
2526059
2526060
2526061
2526062
2526063
2526064
2526066
2526067
2526068
2526069
2526070
2526071
2526072
2526073
2526074
2526075
2526076
2526077
2526078
2526079
34884_at
8048026
A_14_P108650
A_14_P109326
A_14_P111051
A_14_P121491
A_23_P5300
A_33_P3242798
D90282_at
GE57447
GO:0000050
GO:0000166
GO:0001889
GO:0003013
GO:0003824
GO:0004087
GO:0004088
GO:0004175
GO:0005509
GO:0005515
GO:0005524
GO:0005543
GO:0005634
GO:0005730
GO:0005737
GO:0005739
GO:0005743
GO:0005759
GO:0005829
GO:0005886
GO:0006207
GO:0006520
GO:0006541
GO:0006629
GO:0007494
GO:0009410
GO:0009636
GO:0010043
GO:0014075
GO:0016020
GO:0016595
GO:0016874
GO:0019240
GO:0019433
GO:0030955
GO:0032094
GO:0032496
GO:0032991
GO:0033762
GO:0034201
GO:0036094
GO:0042311
GO:0042594
GO:0042645
GO:0043200
GO:0044344
GO:0044877
GO:0046209
GO:0046872
GO:0048545
GO:0048856
GO:0050667
GO:0051384
GO:0051591
GO:0055081
GO:0055086
GO:0060416
GO:0070365
GO:0070409
GO:0071242
GO:0071320
GO:0071377
GO:0071400
GO:0071548
GO:0071941
GO:0072341
GO:0097305
HMNXSV003026373
Hs.326685.0.A1_3p_s_at
ILMN_1792748
PH_hs_0036028
TC02001246.hg
g5020419_3p_at
Participates
as a member of
Other forms of this molecule
CPS1 Q335* [mitochondrial matrix]
CPS1 R721* [mitochondrial matrix]
CPS1 E714* [mitochondrial matrix]
CPS1 Y140* [mitochondrial matrix]
CPS1 R787* [mitochondrial matrix]
CPS1 Q478* [mitochondrial matrix]
CPS1 Q44* [mitochondrial matrix]
CPS1 R238* [mitochondrial matrix]
CPS1 Y1031* [mitochondrial matrix]
CPS1 Q375* [mitochondrial matrix]
CPS1 R1262* [mitochondrial matrix]
CPS1 Q678P [mitochondrial matrix]
CPS1 T471N [mitochondrial matrix]
CPS1 P774L [mitochondrial matrix]
CPS1 T544M [mitochondrial matrix]
CPS1 A438P [mitochondrial matrix]
CPS1 R803G [mitochondrial matrix]
CPS1 R803S [mitochondrial matrix]
CPS1 V389C [mitochondrial matrix]
CPS1 N355D [mitochondrial matrix]
CPS1 L390R [mitochondrial matrix]
CPS1 H337R [mitochondrial matrix]
CPS1 D914H [mitochondrial matrix]
CPS1 L958P [mitochondrial matrix]
CPS1 V959C [mitochondrial matrix]
CPS1 D914G [mitochondrial matrix]
CPS1 G911E [mitochondrial matrix]
CPS1 S918P [mitochondrial matrix]
CPS1 T871P [mitochondrial matrix]
CPS1 I937N [mitochondrial matrix]
CPS1 S913L [mitochondrial matrix]
CPS1 L843S [mitochondrial matrix]
CPS1 G964D [mitochondrial matrix]
CPS1 [mitochondrial matrix]
N6-glutaryl lysine CPS1 [mitochondrial matrix]
N6-succinyl K1291 CPS1 [mitochondrial matrix]
CPS1 P1411L [mitochondrial matrix]
CPS1 Y1491H [mitochondrial matrix]
CPS1 A1378T [mitochondrial matrix]
CPS1 R1453W [mitochondrial matrix]
CPS1 R1453Q [mitochondrial matrix]
CPS1 L1381S [mitochondrial matrix]
CPS1 T1433A [mitochondrial matrix]
CPS1 H1195P [mitochondrial matrix]
CPS1 D1205N [mitochondrial matrix]
CPS1 I1054R [mitochondrial matrix]
CPS1 S1203P [mitochondrial matrix]
CPS1 R1089L [mitochondrial matrix]
CPS1 Y962C [mitochondrial matrix]
CPS1 R850C [mitochondrial matrix]
CPS1 R850H [mitochondrial matrix]
CPS1 R932T [mitochondrial matrix]
CPS1 A949T [mitochondrial matrix]
Modified Residues
Name
glycine 911 replaced with L-valine
Coordinate
911
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
carbamoyl phosphate synthetase I deficiency disease DOID:9280 CPS I deficiency
Cross References
RefSeq
OpenTargets
ENSEMBL
Mondo
PRO
GlyGen
PDB
IntEnz
GeneCards
HPA
Pharos - Targets
Orphanet
HMDB Protein
Interactors (8)
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