SLC25A26

Protein identityUniProt · HPA

UniProt accession

Q70HW3

Gene

SLC25A26

Ensembl

ENSG00000144741

Chromosome

3

Canonical length

274 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

274 residues, UniProt reviewed canonical sequence.

>Q70HW3|SLC25A26
     1  MDRPGFVAAL VAGGVAGVSV DLILFPLDTI KTRLQSPQGF SKAGGFHGIY AGVPSAAIGS
    61  FPNAAAFFIT YEYVKWFLHA DSSSYLTPMK HMLAASAGEV VACLIRVPSE VVKQRAQVSA
   121  STRTFQIFSN ILYEEGIQGL YRGYKSTVLR EIPFSLVQFP LWESLKALWS WRQDHVVDSW
   181  QSAVCGAFAG GFAAAVTTPL DVAKTRITLA KAGSSTADGN VLSVLHGVWR SQGLAGLFAG
   241  VFPRMAAISL GGFIFLGAYD RTHSLLLEVG RKSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A26 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)

0.3

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A26.

Disease | AllUniProt

Conditions SLC25A26 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 28 (COXPD28) MIM:616794

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 203 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation deficiency 28
• Inborn genetic diseases

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)

1.24

gnomAD pLI

0

gnomAD missense Z

-0.39

DepMap mean gene effect

-0.27

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• monoatomic ion transport
• macromolecule methylation
• mitochondrial S-adenosyl-L-methionine transmembrane transport
• S-adenosyl-L-methionine transport

Molecular functions

• S-adenosyl-L-methionine transmembrane transporter activity
• S-adenosyl-L-methionine:S-adenosyl-L-homocysteine antiporter activity

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Antiport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Repeat
• S-adenosyl-L-methionine
• Transmembrane
• Transmembrane helix
• Transport