SLC25A15 M273K [mitochondrial inner membrane]

Stable Identifier
R-HSA-9959773
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
Expand all
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
16601889 HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

Fecarotta, S, Parenti, G, Vajro, P, Zuppaldi, A, Della Casa, R, Carbone, MT, Correra, A, Torre, G, Riva, S, Dionisi-Vici, C, Santorelli, FM, Andria, G

J Inherit Metab Dis 2006
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 G113C [mitochondrial inner membrane]
SLC25A15 G190D [mitochondrial inner membrane]
SLC25A15 T272L [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
L-methionine 273 replaced with L-lysine
Coordinate
273
PsiMod
L-lysine residue [MOD:00021]
A protein modification that effectively converts a source amino acid residue to L-lysine.
L-methionine removal [MOD:01643]
A protein modification that effectively removes or replaces an L-methionine.
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)
Cite Us!