Seroatlas · Human Serome Atlas

SLC25A22

Mitochondrial glutamate carrier 1

Also known as: EIEE3, FLJ13044, GC-1, GC1, GHC1_HUMAN, NET44

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

Protein identityUniProt · HPA

UniProt accession
Q9H936
Gene
SLC25A22
Ensembl
ENSG00000177542
Chromosome
11
Canonical length
323 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

323 residues, UniProt reviewed canonical sequence.

>Q9H936|SLC25A22
     1  MADKQISLPA KLINGGIAGL IGVTCVFPID LAKTRLQNQQ NGQRVYTSMS DCLIKTVRSE
    61  GYFGMYRGAA VNLTLVTPEK AIKLAANDFF RHQLSKDGQK LTLLKEMLAG CGAGTCQVIV
   121  TTPMEMLKIQ LQDAGRIAAQ RKILAAQGQL SAQGGAQPSV EAPAAPRPTA TQLTRDLLRS
   181  RGIAGLYKGL GATLLRDVPF SVVYFPLFAN LNQLGRPASE EKSPFYVSFL AGCVAGSAAA
   241  VAVNPCDVVK TRLQSLQRGV NEDTYSGILD CARKILRHEG PSAFLKGAYC RALVIAPLFG
   301  IAQVVYFLGI AESLLGLLQD PQA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A22 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)
0.31
Highest tissue expression
120 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 120 nTPM
  • cerebellum: 110 nTPM
  • hippocampal formation: 95 nTPM
  • pancreas: 82 nTPM
  • amygdala: 81 nTPM
  • basal ganglia: 55 nTPM

Single-cell type

  • retinal bipolar cells: 101 nCPM
  • oocytes: 51 nCPM
  • cone photoreceptor cells: 37 nCPM
  • pancreatic acinar cells: 28 nCPM
  • brain excitatory neurons: 25 nCPM
  • retinal horizontal cells: 22 nCPM

Immune cell

  • memory CD8 T-cell: 3.9 nTPM
  • gdT-cell: 3.7 nTPM
  • non-classical monocyte: 3.5 nTPM
  • intermediate monocyte: 3.3 nTPM
  • eosinophil: 2.5 nTPM
  • memory CD4 T-cell: 2.3 nTPM

Brain region

  • hippocampal formation: 206 nTPM
  • cerebral cortex: 188 nTPM
  • basal ganglia: 161 nTPM
  • white matter: 130 nTPM
  • amygdala: 118 nTPM
  • pons: 103 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A22.

Disease | AllUniProt

Conditions SLC25A22 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 3 (DEE3) MIM:609304

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 611 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.81
gnomAD pLI
0.01
gnomAD missense Z
0.91
DepMap mean gene effect
-0.1
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC25A22 as an antibody target. Whether an autoantibody or antibody against SLC25A22 could matter depends on whether native SLC25A22 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC25A22 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 SLC25A22 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC25A22. 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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