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Aliases for SLC25A22 Gene

Aliases for SLC25A22 Gene

  • Solute Carrier Family 25 (Mitochondrial Carrier: Glutamate), Member 22 2 3
  • GC1 3 4 6
  • Glutamate/H(+) Symporter 1 3 4
  • EIEE3 3 6
  • GC-1 3 4
  • Solute Carrier Family 25 Member 22 4
  • Mitochondrial Glutamate Carrier 1 3
  • NET44 3

External Ids for SLC25A22 Gene

Summaries for SLC25A22 Gene

Entrez Gene Summary for SLC25A22 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]

GeneCards Summary for SLC25A22 Gene

SLC25A22 (Solute Carrier Family 25 (Mitochondrial Carrier: Glutamate), Member 22) is a Protein Coding gene. Diseases associated with SLC25A22 include epileptic encephalopathy, early infantile, 3 and early myoclonic encephalopathy. GO annotations related to this gene include symporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot for SLC25A22 Gene

  • Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A22 Gene

Genomics for SLC25A22 Gene

Genomic Location for SLC25A22 Gene

Start:
790,475 bp from pter
End:
798,316 bp from pter
Size:
7,842 bases
Orientation:
Minus strand

Genomic View for SLC25A22 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC25A22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A22 Gene

Regulatory Elements for SLC25A22 Gene

Proteins for SLC25A22 Gene

  • Protein details for SLC25A22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H936-GHC1_HUMAN
    Recommended name:
    Mitochondrial glutamate carrier 1
    Protein Accession:
    Q9H936
    Secondary Accessions:
    • A8K366
    • C9J1H6
    • E9PJD3
    • E9PKB2
    • E9PL68
    • E9PN26
    • E9PNQ3
    • E9PP01
    • E9PR97
    • Q8TBU8

    Protein attributes for SLC25A22 Gene

    Size:
    323 amino acids
    Molecular mass:
    34470 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH24212.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC25A22 Gene

Proteomics data for SLC25A22 Gene at MOPED

Post-translational modifications for SLC25A22 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys55, Lys83, Lys96, Lys100, Lys142, Lys188, and Lys286

No data available for DME Specific Peptides for SLC25A22 Gene

Domains for SLC25A22 Gene

Gene Families for SLC25A22 Gene

Protein Domains for SLC25A22 Gene

UniProtKB/Swiss-Prot:

GHC1_HUMAN
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.:
    • Q9H936
Similarity:
  • Contains 3 Solcar repeats.:
    • Q9H936
genes like me logo Genes that share domains with SLC25A22: view

Function for SLC25A22 Gene

Molecular function for SLC25A22 Gene

UniProtKB/Swiss-Prot Function: Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).

Gene Ontology (GO) - Molecular Function for SLC25A22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IDA 11897791
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A22: view

Phenotypes for SLC25A22 Gene

GenomeRNAi human phenotypes for SLC25A22:
genes like me logo Genes that share phenotypes with SLC25A22: view

miRNA for SLC25A22 Gene

miRTarBase miRNAs that target SLC25A22

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC25A22 Gene

Localization for SLC25A22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A22 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A22 Gene COMPARTMENTS Subcellular localization image for SLC25A22 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IDA 11897791
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A22: view

Pathways for SLC25A22 Gene

SuperPathways for SLC25A22 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0015813 L-glutamate transport IDA 11897791
GO:0055085 transmembrane transport --
GO:0089711 L-glutamate transmembrane transport IDA 11897791
genes like me logo Genes that share ontologies with SLC25A22: view

No data available for Pathways by source for SLC25A22 Gene

Compounds for SLC25A22 Gene

(1) Drugbank Compounds for SLC25A22 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
genes like me logo Genes that share compounds with SLC25A22: view

Transcripts for SLC25A22 Gene

Unigene Clusters for SLC25A22 Gene

Solute carrier family 25 (mitochondrial carrier: glutamate), member 22:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A22 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - -
SP2: -
SP3: - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for SLC25A22 Gene

GeneLoc Exon Structure for
SLC25A22
ECgene alternative splicing isoforms for
SLC25A22

Expression for SLC25A22 Gene

mRNA expression in normal human tissues for SLC25A22 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A22 Gene

This gene is overexpressed in Brain - Cortex (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC25A22 Gene

SOURCE GeneReport for Unigene cluster for SLC25A22 Gene Hs.99486

mRNA Expression by UniProt/SwissProt for SLC25A22 Gene

Q9H936-GHC1_HUMAN
Tissue specificity: Highly expressed in most tissues
genes like me logo Genes that share expressions with SLC25A22: view

Orthologs for SLC25A22 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A22 36
  • 99.15 (n)
  • 98.88 (a)
cow
(Bos Taurus)
Mammalia SLC25A22 36
  • 88.85 (n)
  • 94.01 (a)
SLC25A22 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a22 36
  • 88.24 (n)
  • 95.67 (a)
Slc25a22 16
Slc25a22 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911440 36
  • 88.13 (n)
  • 94.74 (a)
chicken
(Gallus gallus)
Aves SLC25A22 36
  • 78.47 (n)
  • 86.52 (a)
SLC25A22 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A22 37
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488953 36
  • 73.61 (n)
  • 84.62 (a)
Str.12092 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8623 36
zebrafish
(Danio rerio)
Actinopterygii LOC571044 36
  • 73.66 (n)
  • 82.95 (a)
SLC25A22 (1 of 2) 37
  • 76 (a)
OneToMany
SLC25A22 (2 of 2) 37
  • 75 (a)
OneToMany
wufa12h05 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010293 36
  • 56.84 (n)
  • 62.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12201 37
  • 52 (a)
ManyToMany
CG18347 36
  • 65.32 (n)
  • 63.18 (a)
CG18347 37
  • 58 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F20D1.9 36
  • 55.56 (n)
  • 56.38 (a)
F20D1.9 37
  • 51 (a)
ManyToMany
F55G1.5 37
  • 48 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGC1 37
  • 13 (a)
OneToMany
Species with no ortholog for SLC25A22:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A22 Gene

ENSEMBL:
Gene Tree for SLC25A22 (if available)
TreeFam:
Gene Tree for SLC25A22 (if available)

Paralogs for SLC25A22 Gene

Paralogs for SLC25A22 Gene

genes like me logo Genes that share paralogs with SLC25A22: view

Variants for SLC25A22 Gene

Sequence variations from dbSNP and Humsavar for SLC25A22 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs116665464 -- 795,380(+) TCCCC(A/C)CCGCC intron-variant
rs116352574 -- 793,068(+) CTGGG(C/T)GCAGA intron-variant
rs116134953 Uncertain significance 794,509(+) GCAGT(C/T)GGACC missense, reference
rs114424122 -- 794,535(+) AGGGT(A/G)AGCCA intron-variant
rs114134153 -- 794,754(+) CTCCC(C/T)GCGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A22 Gene

Variant ID Type Subtype PubMed ID
dgv182e199 CNV Deletion 23128226
dgv921n71 CNV Loss 21882294
nsv469923 CNV Loss 18288195
essv23843 CNV CNV 17122850
dgv936n71 CNV Loss 21882294
dgv944n71 CNV Loss 21882294
dgv945n71 CNV Loss 21882294
nsv896583 CNV Gain 21882294
dgv946n71 CNV Loss 21882294
nsv896587 CNV Loss 21882294
essv11734 CNV CNV 17122850
nsv8759 CNV Gain 18304495
dgv947n71 CNV Loss 21882294
dgv948n71 CNV Loss 21882294
nsv896599 CNV Loss 21882294

Relevant External Links for SLC25A22 Gene

HapMap Linkage Disequilibrium report
SLC25A22
Human Gene Mutation Database (HGMD)
SLC25A22

Disorders for SLC25A22 Gene

(1) OMIM Diseases for SLC25A22 Gene (609302)

UniProtKB/Swiss-Prot

GHC1_HUMAN
  • Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. {ECO:0000269 PubMed:15592994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC25A22 Gene

genes like me logo Genes that share disorders with SLC25A22: view

Publications for SLC25A22 Gene

  1. Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. (PMID: 11897791) Fiermonte G. … Walker J.E. (J. Biol. Chem. 2002) 2 3 4
  2. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. (PMID: 19780765) Molinari F. … Colleaux L. (Clin. Genet. 2009) 3 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. (PMID: 15592994) Molinari F. … Colleaux L. (Am. J. Hum. Genet. 2005) 3 4

Products for SLC25A22 Gene

Sources for SLC25A22 Gene

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