OTC P225L [mitochondrial matrix]

Stable Identifier
R-HSA-9957968
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
1721894 Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene

Hentzen, D, Pelet, A, Feldman, D, Rabier, D, Berthelot, J, Munnich, A

Hum Genet 1991
9427144 Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency

García-Pérez, MA, Climent, C, Briones, P, Vilaseca, MA, Rodés, M, Rubio, V

J Inherit Metab Dis 1997
External Reference Information
External Reference
UniProt:P00480 OTC
Gene Names
OTC
Chain
transit peptide:1-32, chain:33-354
Reference Genes
BioGPS Gene:5009 OTC
COSMIC - genes:OTC OTC
CTD Gene:5009 OTC
dbSNP Gene:5009 OTC
ENSEMBL:ENSG00000036473 OTC
HGNC:8512 OTC
KEGG:hsa:5009 OTC
Monarch:5009 OTC
NCBI Gene:5009 OTC
OMIM:300461 OTC
UCSC:P00480 OTC
Reference Transcript
Other Identifiers
11740020_at
17102592
207200_PM_at
207200_at
35111_at
3973971
3973972
3973973
3973974
3973975
3973976
3973979
3973984
3973985
3973986
3973987
3973988
3973994
3973995
3973996
3973997
3973998
3973999
3974000
5009
683_at
8166769
A_14_P118950
A_23_P257355
GE57536
GO:0000050
GO:0001889
GO:0004585
GO:0005543
GO:0005739
GO:0005743
GO:0005759
GO:0006520
GO:0006526
GO:0006591
GO:0006593
GO:0007494
GO:0008652
GO:0009410
GO:0010043
GO:0016597
GO:0016740
GO:0016743
GO:0019240
GO:0031667
GO:0032868
GO:0042301
GO:0042450
GO:0042802
GO:0048856
GO:0055081
GO:0070781
GO:0071941
GO:0097272
HMNXSV003032799
ILMN_1749114
K02100_at
PH_hs_0006412
TC0X000177.hg
g9257233_3p_at
Participates
as a component of
Other forms of this molecule
OTC A253P [mitochondrial matrix]
OTC S192R [mitochondrial matrix]
OTC I160T [mitochondrial matrix]
OTC N47I [mitochondrial matrix]
OTC K289D [mitochondrial matrix]
OTC A155E [mitochondrial matrix]
OTC L45P [mitochondrial matrix]
OTC K289N [mitochondrial matrix]
OTC G162E [mitochondrial matrix]
OTC E52G [mitochondrial matrix]
OTC I53S [mitochondrial matrix]
OTC L201P [mitochondrial matrix]
OTC G162R [mitochondrial matrix]
OTC L57Q [mitochondrial matrix]
OTC E52K [mitochondrial matrix]
OTC R320L [mitochondrial matrix]
OTC I160N [mitochondrial matrix]
OTC V311E [mitochondrial matrix]
OTC A140P [mitochondrial matrix]
OTC T125M [mitochondrial matrix]
OTC Q180P [mitochondrial matrix]
OTC L148S [mitochondrial matrix]
OTC L179P [mitochondrial matrix]
OTC L191R [mitochondrial matrix]
OTC M206R [mitochondrial matrix]
OTC L272F [mitochondrial matrix]
OTC G269E [mitochondrial matrix]
OTC M205T [mitochondrial matrix]
OTC D249G [mitochondrial matrix]
OTC F281S [mitochondrial matrix]
OTC K221N [mitochondrial matrix]
OTC N199S [mitochondrial matrix]
OTC E310* [mitochondrial matrix]
OTC G50* [mitochondrial matrix]
OTC R141* [mitochondrial matrix]
OTC E87K [mitochondrial matrix]
OTC W332R [mitochondrial matrix]
OTC R129H [mitochondrial matrix]
OTC W298S [mitochondrial matrix]
OTC I172M [mitochondrial matrix]
OTC Y183C [mitochondrial matrix]
OTC P225R [mitochondrial matrix]
OTC G195R [mitochondrial matrix]
OTC P245W [mitochondrial matrix]
OTC W332S [mitochondrial matrix]
OTC R40C [mitochondrial matrix]
OTC D196V [mitochondrial matrix]
OTC T343R [mitochondrial matrix]
OTC D126G [mitochondrial matrix]
OTC S164P [mitochondrial matrix]
OTC D196Y [mitochondrial matrix]
OTC S207R [mitochondrial matrix]
OTC G188R [mitochondrial matrix]
OTC M205V [mitochondrial matrix]
OTC L111P [mitochondrial matrix]
OTC E239V [mitochondrial matrix]
OTC A253T [mitochondrial matrix]
OTC P225T [mitochondrial matrix]
OTC H182L [mitochondrial matrix]
OTC R102E [mitochondrial matrix]
OTC V339G [mitochondrial matrix]
OTC R40H [mitochondrial matrix]
OTC Y313D [mitochondrial matrix]
OTC P220L [mitochondrial matrix]
OTC N198I [mitochondrial matrix]
OTC Q181G [mitochondrial matrix]
OTC V339L [mitochondrial matrix]
OTC L76S [mitochondrial matrix]
OTC Y176H [mitochondrial matrix]
OTC P169L [mitochondrial matrix]
OTC G83D [mitochondrial matrix]
OTC T247K [mitochondrial matrix]
OTC R66G [mitochondrial matrix]
OTC P169S [mitochondrial matrix]
OTC A233V [mitochondrial matrix]
OTC G79E [mitochondrial matrix]
OTC R94T [mitochondrial matrix]
OTC P347S [mitochondrial matrix]
OTC A209V [mitochondrial matrix]
OTC T178M [mitochondrial matrix]
OTC H214Y [mitochondrial matrix]
OTC Q216E [mitochondrial matrix]
OTC S207N [mitochondrial matrix]
OTC [mitochondrial matrix]
OTC precursor [cytosol]
OTC(1-32) [mitochondrial matrix]
OTC(1-354) [mitochondrial inner membrane]
OTC [mitochondrial inner membrane]
OTC(1-354) [mitochondrial intermembrane space]
OTC precursor R26Q [cytosol]
OTC precursor M1L [cytosol]
OTC precursor R26P [cytosol]
OTC P305R [mitochondrial matrix]
OTC H302R [mitochondrial matrix]
OTC C303R [mitochondrial matrix]
OTC C303G [mitochondrial matrix]
OTC H302Y [mitochondrial matrix]
OTC N161D [mitochondrial matrix]
OTC R141Q [mitochondrial matrix]
OTC R92Q [mitochondrial matrix]
OTC R92L [mitochondrial matrix]
OTC N161S [mitochondrial matrix]
OTC R92P [mitochondrial matrix]
OTC T264A [mitochondrial matrix]
OTC T287I [mitochondrial matrix]
OTC R277W [mitochondrial matrix]
OTC R277Q [mitochondrial matrix]
OTC R102P [mitochondrial matrix]
OTC M335I [mitochondrial matrix]
Modified Residues
Name
L-proline 225 replaced with L-leucine
Coordinate
225
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name Identifier Synonyms
ornithine carbamoyltransferase deficiency DOID:9271 ornithine transcarbamylase deficiency, deficiency of citrulline phosphorylase
Cross References
RefSeq
ClinGen
OpenTargets
ENSEMBL
Mondo
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
PDB
ZINC - Metabolites
IntEnz
GeneCards
OTC
HPA
Pharos - Targets
Orphanet
OTC
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (4)
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