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SLC25A22 solute carrier family 25 member 22 [ Homo sapiens (human) ]

Gene ID: 79751, updated on 7-Apr-2024

Summary

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Official Symbol
SLC25A22provided by HGNC
Official Full Name
solute carrier family 25 member 22provided by HGNC
Primary source
HGNC:HGNC:19954
See related
Ensembl:ENSG00000177542 MIM:609302; AllianceGenome:HGNC:19954
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GC1; DEE3; GC-1; EIEE3; NET44
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 22.0), testis (RPKM 5.8) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
11p15.5
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (790475..798281, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (841908..849743, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (790475..798281, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3027 Neighboring gene uncharacterized LOC124900301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3028 Neighboring gene GATD1 divergent transcript Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:783107-783794 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:783795-784482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3029 Neighboring gene cell cycle exit and neuronal differentiation 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:794229-794747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:795266-795784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:796302-796820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:797857-798373 Neighboring gene proapoptotic nucleolar protein 1 Neighboring gene p53-induced death domain protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:804161-804858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3035 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:811306-812046 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype. Nicotera AG, et al. J Neurogenet, 2021 Mar-Jun. PMID 33821742
  2. Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group. Lemattre C, et al. Eur J Hum Genet, 2019 Nov. PMID 31285529, Free PMC Article
  3. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Reid ES, et al. J Inherit Metab Dis, 2017 May. PMID 28255779, Free PMC Article
  4. SLC25A22 is a novel gene for migrating partial seizures in infancy. Poduri A, et al. Ann Neurol, 2013 Dec. PMID 24596948, Free PMC Article
  5. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Molinari F, et al. Clin Genet, 2009 Aug. PMID 19780765

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In Colorectal Cancer Cells With Mutant KRAS, SLC25A22-Mediated Glutaminolysis Reduces DNA Demethylation to Increase WNT Signaling, Stemness, and Drug Resistance.
    Title: In Colorectal Cancer Cells With Mutant KRAS, SLC25A22-Mediated Glutaminolysis Reduces DNA Demethylation to Increase WNT Signaling, Stemness, and Drug Resistance.
  2. EIEE type 3 is caused by variants affecting function, in SLC25A22, which is also responsible for epilepsy of infancy with migrating focal seizures (EIMFS).
    Title: Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
  3. SLC25A22 is highly expressed in osteosarcoma, promoting osteosarcoma cell proliferation and invasion by inhibiting the phosphatase and tensin homolog signaling pathway
    Title: SLC25A22 Promotes Proliferation and Metastasis of Osteosarcoma Cells via the PTEN Signaling Pathway.
  4. SLC25A22 is an important mitochondrial glutamate transporter.
    Title: Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
  5. SLC25A22 promotes proliferation and migration of colorectal cancer (CRC) cells with KRAS mutations, and formation and metastasis of CRC xenograft tumors in mice. Patients with colorectal tumors expressing increased levels of SLC25A22 have shorter survival times. SLC25A22 induces intracellular synthesis of aspartate.
    Title: SLC25A22 Promotes Proliferation and Survival of Colorectal Cancer Cells With KRAS Mutations and Xenograft Tumor Progression in Mice via Intracellular Synthesis of Aspartate.
  6. SLC25A22 is responsible for migrating partial seizures in infancy, demonstrated by combining linkage analysis and whole exome sequencing.
    Title: SLC25A22 is a novel gene for migrating partial seizures in infancy.
  7. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  8. A novel SLC25A22 mutation in an unrelated patient born from first cousin Algerian parents and presenting severe epileptic encephalopathy, is described.
    Title: Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 3
MedGen: C5574665 OMIM: 609304 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13044

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-aspartate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables amino acid:proton symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables amino acid:proton symporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in L-aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in L-glutamate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-glutamate transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in malate-aspartate shuttle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
mitochondrial glutamate carrier 1
Names
Early infantile epileptic encephalopathy 3
glutamate/H(+) symporter 1
solute carrier family 25 (mitochondrial carrier: glutamate), member 22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023407.1 RefSeqGene

    Range
    4989..12795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001191060.2 → NP_001177989.1  mitochondrial glutamate carrier 1 isoform 1

    See identical proteins and their annotated locations for NP_001177989.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA723654, AK290481, AP006621
    Consensus CDS
    CCDS7715.1
    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    UniProtKB/TrEMBL
    E9PJH7
    Related
    ENSP00000437236.1, ENST00000531214.5
    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

  2. NM_001191061.2 → NP_001177990.1  mitochondrial glutamate carrier 1 isoform 1

    See identical proteins and their annotated locations for NP_001177990.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AP006621, BC019033
    Consensus CDS
    CCDS7715.1
    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    UniProtKB/TrEMBL
    E9PJH7
    Related
    ENSP00000486058.1, ENST00000628067.3
    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

  3. NM_001425334.1 → NP_001412263.1  mitochondrial glutamate carrier 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP006621

  4. NM_001425335.1 → NP_001412264.1  mitochondrial glutamate carrier 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP006621

  5. NM_001425336.1 → NP_001412265.1  mitochondrial glutamate carrier 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP006621

  6. NM_001425337.1 → NP_001412266.1  mitochondrial glutamate carrier 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AP006621
    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  7. NM_001425338.1 → NP_001412267.1  mitochondrial glutamate carrier 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AP006621
    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  8. NM_001425339.1 → NP_001412268.1  mitochondrial glutamate carrier 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AP006621
    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  9. NM_001425340.1 → NP_001412269.1  mitochondrial glutamate carrier 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP006621

  10. NM_001425341.1 → NP_001412270.1  mitochondrial glutamate carrier 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP006621

  11. NM_001425342.1 → NP_001412271.1  mitochondrial glutamate carrier 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP006621

  12. NM_001425343.1 → NP_001412272.1  mitochondrial glutamate carrier 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AP006621

  13. NM_001425344.1 → NP_001412273.1  mitochondrial glutamate carrier 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP006621

  14. NM_024698.6 → NP_078974.1  mitochondrial glutamate carrier 1 isoform 1

    See identical proteins and their annotated locations for NP_078974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AP006621, BC023545
    Consensus CDS
    CCDS7715.1
    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    UniProtKB/TrEMBL
    E9PJH7
    Related
    ENSP00000322020.5, ENST00000320230.9
    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    790475..798281 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520371.2 → XP_011518673.1  mitochondrial glutamate carrier 1 isoform X1

    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

  2. XM_047427600.1 → XP_047283556.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  3. XM_047427599.1 → XP_047283555.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  4. XM_024448687.2 → XP_024304455.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    UniProtKB/TrEMBL
    E9PJH7
    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

  5. XM_047427601.1 → XP_047283557.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  6. XM_011520370.3 → XP_011518672.1  mitochondrial glutamate carrier 1 isoform X1

    See identical proteins and their annotated locations for XP_011518672.1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    UniProtKB/TrEMBL
    E9PJH7
    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

  7. XM_024448689.2 → XP_024304457.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    UniProtKB/TrEMBL
    E9PJH7
    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

  8. XM_011520369.2 → XP_011518671.1  mitochondrial glutamate carrier 1 isoform X1

    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

  9. XM_024448688.2 → XP_024304456.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
    UniProtKB/TrEMBL
    E9PJH7
    Conserved Domains (2) summary
    PTZ00169
    Location:3 → 289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:4 → 98
    Mito_carr; Mitochondrial carrier protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    841908..849743 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369960.1 → XP_054225935.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  2. XM_054369965.1 → XP_054225940.1  mitochondrial glutamate carrier 1 isoform X1

  3. XM_054369961.1 → XP_054225936.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  4. XM_054369966.1 → XP_054225941.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  5. XM_054369964.1 → XP_054225939.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  6. XM_054369962.1 → XP_054225937.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  7. XM_054369967.1 → XP_054225942.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936

  8. XM_054369963.1 → XP_054225938.1  mitochondrial glutamate carrier 1 isoform X1

  9. XM_054369968.1 → XP_054225943.1  mitochondrial glutamate carrier 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K366, C9J1H6, E9PJD3, E9PKB2, E9PL68, E9PN26, E9PNQ3, E9PP01, E9PR97, Q8TBU8, Q9H936
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H936.1 GenPept UniProtKB/Swiss-Prot:Q9H936

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