SLC25A15

Protein identityUniProt · HPA

UniProt accession

Q9Y619

Gene

SLC25A15

Ensembl

ENSG00000102743

Chromosome

13

Canonical length

301 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]

Canonical amino-acid sequenceUniProt

301 residues, UniProt reviewed canonical sequence.

>Q9Y619|SLC25A15
     1  MKSNPAIQAA IDLTAGAAGG TACVLTGQPF DTMKVKMQTF PDLYRGLTDC CLKTYSQVGF
    61  RGFYKGTSPA LIANIAENSV LFMCYGFCQQ VVRKVAGLDK QAKLSDLQNA AAGSFASAFA
   121  ALVLCPTELV KCRLQTMYEM ETSGKIAKSQ NTVWSVIKSI LRKDGPLGFY HGLSSTLLRE
   181  VPGYFFFFGG YELSRSFFAS GRSKDELGPV PLMLSGGVGG ICLWLAVYPV DCIKSRIQVL
   241  SMSGKQAGFI RTFINVVKNE GITALYSGLK PTMIRAFPAN GALFLAYEYS RKLMMNQLEA
   301  Y

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A15 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

99 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A15.

Disease | AllUniProt

Conditions SLC25A15 is implicated in, by any mechanism.

• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) MIM:238970

Disease | GeneticClinVar

83 pathogenic / likely-pathogenic of 502 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
• SLC25A15-related disorder
• Inborn genetic diseases
• Cardiac arrhythmia
• Hereditary breast ovarian cancer syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.38

gnomAD pLI

0

gnomAD missense Z

0.1

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• L-arginine transmembrane transport
• L-lysine transmembrane transport
• mitochondrial L-ornithine transmembrane transport
• urea cycle

Molecular functions

• antiporter activity
• L-arginine transmembrane transporter activity
• L-lysine transmembrane transporter activity
• L-ornithine transmembrane transporter activity

Cellular components

• membrane
• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Mitochondrial carrier protein, transmembrane region
• Mitochondrial carrier protein domain superfamily
• Mitochondrial Carrier
• Mitochondrial carrier protein

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Repeat
• Transmembrane
• Transmembrane helix
• Transport