SLC25A15
Protein name:
ORC1 (ornithine carrier 1)
Aliases:
ORNT1, HHH
Substrates:
ornithine, citrulline, lysine, arginine
Transport type:
Exchanger / ornithine, citrulline, H+; ornithine, H+
Tissue and cellular expression:
liver, pancreas, lung, testis, small intestine, spleen, kidney, brain, heart
Subcellular expression:
inner mitochondrial membrane
Disease:
hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
Locus:
13q14.11
Sequence ID:
NP_055067.1,
NM_014252.3
Gene ID:
10166
Splice variants:
N/D
ORNT1_HUMAN (UniProt)
Gene names:
SLC25A15, ORNT1, SP1855
Protein names and data:
ORNT1_HUMAN, Full=Mitochondrial ornithine transporter 1, Full=Solute carrier family 25 member 15;
Length: 301 a.a., Mass: 32736 Da,
fasta formatted sequence
Function:
Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix
Disease:
(OMIM:
238970 603861)
Defects in SLC25A15 are the cause of hyperornithinemia- hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]. It is an autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle
Cellular location:
Mitochondrion inner membrane; Multi-pass membrane protein
Database cross-references
UniProt:
Q9Y619
NextBio:
38490
OMIM:
238970
603861
Ensembl:
ENST00000426521
GeneCard:
GC13P040789
TCDB:
2.A.29.19.2
PharmGenUCSF:
SLC25A15
Guide to Pharmacology:
SLC25A15 (1060)
Mitochondrial amino acid transporter subfamily (1060)
HGNC:
HGNC:10985
Genetic variants
See also Ensembl:ENST00000426521
27 - 27
G -> E (in HHH syndrome). VAR_012757
27 - 27
G -> R (in HHH syndrome; incapable of catalyzing homo-exchanges of ornithine, arginine, lysine and citrulline). VAR_012758
37 - 37
M -> R (in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane). VAR_058948
70 - 70
A -> L (in HHH syndrome; requires 2 nucleotide substitutions; uncertain pathogenicity). VAR_058949
71 - 71
L -> Q (in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane). VAR_058950
113 - 113
G -> C (in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane). VAR_058951
126 - 126
P -> R (in HHH syndrome). VAR_012759
180 - 180
E -> K (in HHH syndrome). VAR_012760
188 - 188
F -> L (in HHH syndrome; maintains a residual transport activity of 10%). VAR_058952
188 - 188
Missing (in HHH syndrome). VAR_012761
190 - 190
G -> D (in HHH syndrome; maintains a residual transport activity of 35%). VAR_012762
216 - 216
G -> S (in HHH syndrome). VAR_058953
254 - 254
I -> L (in dbSNP:rs17849654). VAR_012763
17849654
272 - 272
T -> I (in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane). VAR_058954
273 - 273
M -> K (in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane). VAR_058955
275 - 275
R -> Q (in HHH syndrome). VAR_012764
283 - 283
L -> F (in HHH syndrome; exhibits very low transport activity despite normal insertion in the liposomal membrane). VAR_058956