SLC25A15 G113C [mitochondrial inner membrane]

Stable Identifier
R-HSA-9959765
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial inner membrane
Synonyms
Mitochondrial ornithine transporter 1, Solute carrier family 25, member 15
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
19242930 Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study

Tessa, A, Fiermonte, G, Dionisi-Vici, C, Paradies, E, Baumgartner, MR, Chien, YH, Loguercio, C, de Baulny, HO, Nassogne, MC, Schiff, M, Deodato, F, Parenti, G, Rutledge, SL, Vilaseca, MA, Melone, MA, Scarano, G, Aldamiz-Echevarría, L, Besley, G, Walter, J, Martinez-Hernandez, E, Hernandez, JM, Pierri, CL, Palmieri, F, Santorelli, FM

Hum Mutat 2009
External Reference Information
External Reference
UniProt:Q9Y619 SLC25A15
Gene Names
SLC25A15, ORC1, ORNT1, SP1855
Chain
chain:1-301
Reference Genes
BioGPS Gene:10166 SLC25A15
COSMIC - genes:ORC1 SLC25A15
COSMIC - genes:SLC25A15 SLC25A15
CTD Gene:10166 SLC25A15
dbSNP Gene:10166 SLC25A15
ENSEMBL:ENSG00000102743 SLC25A15
HGNC:10985 SLC25A15
KEGG:hsa:10166 SLC25A15
Monarch:10166 SLC25A15
NCBI Gene:10166 SLC25A15
OMIM:603861 SLC25A15
UCSC:Q9Y619 SLC25A15
Reference Transcript
Other Identifiers
10166
11739956_s_at
11746530_s_at
11756145_s_at
16774235
218653_PM_at
218653_at
222705_PM_s_at
222705_s_at
3479984
3482075
3482077
3486731
3486732
3486734
3486735
3486740
3486741
3486742
3486744
3486745
3486748
3486749
3486750
3486751
3486752
3486754
3486755
3486756
3486757
3486758
3506009
3935932
3951512
54978_at
62682_at
7968734
A_14_P136137
A_23_P128650
A_33_P3840512
GE58576
GO:0000050
GO:0000064
GO:0005739
GO:0005743
GO:0015189
GO:0015297
GO:0016020
GO:0031966
GO:0055085
GO:0061459
GO:0071941
GO:1903401
GO:1903826
GO:1990575
HMNXSV003021904
HMNXSV003053627
ILMN_1667670
ILMN_2070013
PH_hs_0004524
TC0Y000343.hg
TC13000140.hg
g12803730_3p_a_at
g7657584_3p_at
Participates
as a candidate of
Other forms of this molecule
SLC25A15 [mitochondrial inner membrane]
SLC25A15 G190D [mitochondrial inner membrane]
SLC25A15 T272L [mitochondrial inner membrane]
SLC25A15 M273K [mitochondrial inner membrane]
SLC25A15 T32R [mitochondrial inner membrane]
SLC25A15 R179* [mitochondrial inner membrane]
SLC25A15 A15V [mitochondrial inner membrane]
SLC25A15 M37R [mitochondrial inner membrane]
SLC25A15 F188del [mitochondrial inner membrane]
SLC25A15 L283F [mitochondrial inner membrane]
SLC25A15 E180K [mitochondrial inner membrane]
SLC25A15 L71Q [mitochondrial inner membrane]
SLC25A15 R275Q [mitochondrial inner membrane]
SLC25A15 G27R [mitochondrial inner membrane]
Modified Residues
Name
glycine 113 replaced with L-cysteine
Coordinate
113
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
ornithine translocase deficiency DOID:0050720 Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, HHH syndrome
Cross References
RefSeq
Guide to Pharmacology - Targets
ClinGen
ENSEMBL
OpenTargets
Mondo
PRO
GlyGen
GeneCards
HPA
Pharos - Targets
Orphanet
HMDB Protein
Interactors (2)
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