SLC25A3

Protein identityUniProt · HPA

UniProt accession

Q00325

Gene

SLC25A3

Ensembl

ENSG00000075415

Chromosome

12

Canonical length

362 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

362 residues, UniProt reviewed canonical sequence.

>Q00325|SLC25A3
     1  MFSSVAHLAR ANPFNTPHLQ LVHDGLGDLR SSSPGPTGQP RRPRNLAAAA VEEQYSCDYG
    61  SGRFFILCGL GGIISCGTTH TALVPLDLVK CRMQVDPQKY KGIFNGFSVT LKEDGVRGLA
   121  KGWAPTFLGY SMQGLCKFGF YEVFKVLYSN MLGEENTYLW RTSLYLAASA SAEFFADIAL
   181  APMEAAKVRI QTQPGYANTL RDAAPKMYKE EGLKAFYKGV APLWMRQIPY TMMKFACFER
   241  TVEALYKFVV PKPRSECSKP EQLVVTFVAG YIAGVFCAIV SHPADSVVSV LNKEKGSSAS
   301  LVLKRLGFKG VWKGLFARII MIGTLTALQW FIYDSVKVYF RLPRPPPPEM PESLKKKLGL
   361  TQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A3 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)

0.32

Highest tissue expression

1,319 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A3.

Disease | AllUniProt

Conditions SLC25A3 is implicated in, by any mechanism.

• Mitochondrial phosphate carrier deficiency (MPCD) MIM:610773

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 253 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cardiomyopathy-hypotonia-lactic acidosis 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)

0.62

gnomAD pLI

0.07

gnomAD missense Z

1.24

DepMap mean gene effect

-0.69

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• phosphate ion transmembrane transport
• mitochondrial phosphate ion transmembrane transport

Molecular functions

• phosphate transmembrane transporter activity
• protein-containing complex binding
• phosphate:proton symporter activity

Cellular components

• extracellular exosome
• membrane
• mitochondrial inner membrane
• mitochondrion
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Mitochondrial carrier protein, transmembrane region
• Mitochondrial carrier protein domain superfamily
• Mitochondrial carrier protein
• Mitochondrial phosphate carrier protein SLC25A3/Pic2/Mir1-like

KeywordsUniProt

• Acetylation
• Membrane
• Methylation
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Primary mitochondrial disease
• Repeat
• Symport
• Transit peptide
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC25A3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PPIF