OTC D249G [mitochondrial matrix]

Stable Identifier
R-HSA-9957850
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
17041896 Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro

Kim, GH, Choi, JH, Lee, HH, Park, S, Kim, SS, Yoo, HW

Hum Mutat 2006
37146589 The functional impact of 1,570 individual amino acid substitutions in human OTC

Lo, RS, Cromie, GA, Tang, M, Teng, K, Owens, K, Sirr, A, Kutz, JN, Morizono, H, Caldovic, L, Ah Mew, N, Gropman, A, Dudley, AM

Am J Hum Genet 2023
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 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 P225L [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-aspartic acid 249 replaced with glycine
Coordinate
249
PsiMod
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
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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