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

Gene ID: 8604, updated on 7-Jan-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
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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 modified amino acid transport IEA
Inferred from Electronic Annotation
more info
 
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)

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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_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