Seroatlas · Human Serome Atlas

SLC25A46

Mitochondrial outer membrane protein SLC25A46

Also known as: S2546_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96AG3
Gene
SLC25A46
Ensembl
ENSG00000164209
Chromosome
5
Canonical length
418 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Mitochondria

OverviewNCBI Gene

This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

418 residues, UniProt reviewed canonical sequence.

>Q96AG3|SLC25A46
     1  MHPRRPDGFD GLGYRGGARD EQGFGGAFPA RSFSTGSDLG HWVTTPPDIP GSRNLHWGEK
    61  SPPYGVPTTS TPYEGPTEEP FSSGGGGSVQ GQSSEQLNRF AGFGIGLASL FTENVLAHPC
   121  IVLRRQCQVN YHAQHYHLTP FTVINIMYSF NKTQGPRALW KGMGSTFIVQ GVTLGAEGII
   181  SEFTPLPREV LHKWSPKQIG EHLLLKSLTY VVAMPFYSAS LIETVQSEII RDNTGILECV
   241  KEGIGRVIGM GVPHSKRLLP LLSLIFPTVL HGVLHYIISS VIQKFVLLIL KRKTYNSHLA
   301  ESTSPVQSML DAYFPELIAN FAASLCSDVI LYPLETVLHR LHIQGTRTII DNTDLGYEVL
   361  PINTQYEGMR DCINTIRQEE GVFGFYKGFG AVIIQYTLHA AVLQITKIIY STLLQNNI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A46 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)
0.37
Highest tissue expression
56 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 56 nTPM
  • skeletal muscle: 52 nTPM
  • heart muscle: 29 nTPM
  • liver: 28 nTPM
  • kidney: 28 nTPM
  • cerebral cortex: 26 nTPM

Single-cell type

  • late spermatids: 761 nCPM
  • early spermatids: 221 nCPM
  • late primary spermatocytes: 169 nCPM
  • lactotrophs: 127 nCPM
  • gonadotrophs: 110 nCPM
  • oligodendrocytes: 104 nCPM

Immune cell

  • basophil: 29 nTPM
  • NK-cell: 21 nTPM
  • intermediate monocyte: 19 nTPM
  • T-reg: 18 nTPM
  • non-classical monocyte: 18 nTPM
  • total PBMC: 17 nTPM

Brain region

  • cerebral cortex: 40 nTPM
  • white matter: 39 nTPM
  • pons: 38 nTPM
  • cerebellum: 37 nTPM
  • hypothalamus: 37 nTPM
  • medulla oblongata: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A46.

Disease | AllUniProt

Conditions SLC25A46 is implicated in, by any mechanism.

  • Neuropathy, hereditary motor and sensory, 6B, with optic atrophy (HMSN6B) MIM:616505
  • Pontocerebellar hypoplasia 1E (PCH1E) MIM:619303

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 445 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neuropathy, hereditary motor and sensory, type 6B
  • Pontocerebellar hypoplasia, type 1E
  • Inborn genetic diseases
  • SLC25A46-associated optic atrophy spectrum disorder

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)
0.91
gnomAD pLI
0
gnomAD missense Z
0.16
DepMap mean gene effect
-0.04
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC25A46 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC25A46 as an antibody target. Whether an autoantibody or antibody against SLC25A46 could matter depends on whether native SLC25A46 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC25A46 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC25A46 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC25A46. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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