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    SLC25A12 solute carrier family 25 member 12 [ Homo sapiens (human) ]

    Gene ID: 8604, updated on 17-Jun-2024

    Summary

    Official Symbol
    SLC25A12provided by HGNC
    Official Full Name
    solute carrier family 25 member 12provided by HGNC
    Primary source
    HGNC:HGNC:10982
    See related
    Ensembl:ENSG00000115840 MIM:603667; AllianceGenome:HGNC:10982
    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
    AGC1; DEE39; ARALAR; EIEE39
    Summary
    This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
    Expression
    Ubiquitous expression in heart (RPKM 23.7), brain (RPKM 13.5) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC25A12 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171783405..171894244, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (172260855..172372092, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172639915..172750754, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16759 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 Neighboring gene MPRA-validated peak3925 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:172631779-172632398 Neighboring gene NANOG hESC enhancer GRCh37_chr2:172654669-172655199 Neighboring gene RNA, U6 small nuclear 182, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:172750400-172750966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:172750967-172751533 Neighboring gene uncharacterized LOC105373739 Neighboring gene uncharacterized LOC105373740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172778407-172779055

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 39
    MedGen: C2751855 OMIM: 612949 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-01-19)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-01-19)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of solute carrier family 25, member 12 (SLC25A12, Aralar) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 family amino acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in aspartate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in malate-aspartate shuttle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in malate-aspartate shuttle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neutral amino acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial
    Names
    araceli hiperlarga
    aspartate/glutamate carrier 1
    calcium binding mitochondrial carrier superfamily member Aralar1
    calcium-binding mitochondrial carrier protein Aralar1
    mitochondrial aspartate glutamate carrier 1
    solute carrier family 25 (aspartate/glutamate carrier), member 12
    solute carrier family 25 (mitochondrial carrier, Aralar), member 12

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011781.2 RefSeqGene

      Range
      5060..115899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003705.5NP_003696.2  electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial

      See identical proteins and their annotated locations for NP_003696.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and is protein-coding.
      Source sequence(s)
      AC068039, AJ496568
      Consensus CDS
      CCDS33327.1
      UniProtKB/Swiss-Prot
      B3KR64, O75746, Q96AM8
      UniProtKB/TrEMBL
      B3KMV8
      Related
      ENSP00000388658.2, ENST00000422440.7
      Conserved Domains (3) summary
      PTZ00169
      Location:330603
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:514609
      Mito_carr; Mitochondrial carrier protein
      pfam13499
      Location:1680
      EF-hand_7; EF-hand domain pair

    RNA

    1. NR_047549.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC068039, AJ496568, AK091071

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      171783405..171894244 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446142.1XP_047302098.1  electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KMV8

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791761.1 Reference GRCh38.p14 PATCHES

      Range
      213578..324837 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332874.1XP_054188849.1  electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KMV8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      172260855..172372092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344307.1XP_054200282.1  electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KMV8