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

Gene ID: 8604, updated on 11-Sep-2019

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
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; 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

Genomic context

See SLC25A12 in Genome Data Viewer
Location:
2q31.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (171783405..171894306, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172639915..172750816, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 38 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 Neighboring gene RNA, U6 small nuclear 182, pseudogene Neighboring gene uncharacterized LOC105373739 Neighboring gene uncharacterized LOC105373740

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
Hypomyelination, global cerebral
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

NHGRI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA 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 BioSystems

  • Gluconeogenesis, organism-specific biosystem (from REACTOME)
    Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-aspartate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-aspartate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
L-glutamate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glutamate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
malate-aspartate shuttle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
malate-aspartate shuttle IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of glucose catabolic process to lactate via pyruvate IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
calcium-binding mitochondrial carrier protein Aralar1
Names
araceli hiperlarga
calcium binding mitochondrial carrier superfamily member 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)

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  calcium-binding mitochondrial carrier protein Aralar1

    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
    O75746
    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_047549.1 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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    171783405..171894306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512070.3XP_011510372.1  calcium-binding mitochondrial carrier protein Aralar1 isoform X1

    See identical proteins and their annotated locations for XP_011510372.1

    Conserved Domains (1) summary
    pfam00153
    Location:423518
    Mito_carr; Mitochondrial carrier protein
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