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Aliases for SLC25A12 Gene

Aliases for SLC25A12 Gene

  • Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 12 2 3
  • Solute Carrier Family 25 (Mitochondrial Carrier, Aralar), Member 12 2 3
  • Mitochondrial Aspartate Glutamate Carrier 1 3 4
  • ARALAR 3 6
  • Calcium Binding Mitochondrial Carrier Superfamily Member Aralar1 3
  • Calcium-Binding Mitochondrial Carrier Protein Aralar1 3
  • Solute Carrier Family 25 Member 12 4
  • Araceli Hiperlarga 3
  • ARALAR1 4
  • AGC1 3

External Ids for SLC25A12 Gene

Previous GeneCards Identifiers for SLC25A12 Gene

  • GC02M170692
  • GC02M171182
  • GC02M172604
  • GC02M172843
  • GC02M172466
  • GC02M172349
  • GC02M164525

Summaries for SLC25A12 Gene

Entrez Gene Summary for SLC25A12 Gene

  • 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]

GeneCards Summary for SLC25A12 Gene

SLC25A12 (Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 12) is a Protein Coding gene. Diseases associated with SLC25A12 include hypomyelination, global cerebral and muscular dystrophy, limb-girdle, type 2c. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include calcium ion binding and L-aspartate transmembrane transporter activity. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot for SLC25A12 Gene

  • Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

Gene Wiki entry for SLC25A12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A12 Gene

Genomics for SLC25A12 Gene

Regulatory Elements for SLC25A12 Gene

Genomic Location for SLC25A12 Gene

Start:
171,783,405 bp from pter
End:
171,999,859 bp from pter
Size:
216,455 bases
Orientation:
Minus strand

Genomic View for SLC25A12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC25A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A12 Gene

Proteins for SLC25A12 Gene

  • Protein details for SLC25A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75746-CMC1_HUMAN
    Recommended name:
    Calcium-binding mitochondrial carrier protein Aralar1
    Protein Accession:
    O75746
    Secondary Accessions:
    • B3KR64
    • Q96AM8

    Protein attributes for SLC25A12 Gene

    Size:
    678 amino acids
    Molecular mass:
    74762 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Binds calcium

    Three dimensional structures from OCA and Proteopedia for SLC25A12 Gene

    Alternative splice isoforms for SLC25A12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A12 Gene

Proteomics data for SLC25A12 Gene at MOPED

Post-translational modifications for SLC25A12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A12 Gene

Domains for SLC25A12 Gene

Gene Families for SLC25A12 Gene

HGNC:
  • EFHAND :EF-hand domain containing
  • SLC :Solute carriers
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O75746

UniProtKB/Swiss-Prot:

CMC1_HUMAN :
  • O75746
Domain:
  • Contains 4 EF-hand domains.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A12: view

Function for SLC25A12 Gene

Molecular function for SLC25A12 Gene

UniProtKB/Swiss-Prot Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

Gene Ontology (GO) - Molecular Function for SLC25A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IDA 11566871
GO:0005509 calcium ion binding IDA 9722566
GO:0015183 L-aspartate transmembrane transporter activity IDA 11566871
genes like me logo Genes that share ontologies with SLC25A12: view
genes like me logo Genes that share phenotypes with SLC25A12: view

miRNA for SLC25A12 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC25A12 Gene

Localization for SLC25A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A12 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A12 Gene COMPARTMENTS Subcellular localization image for SLC25A12 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 11566871
GO:0005743 mitochondrial inner membrane TAS --
GO:0016021 integral component of membrane NAS 9722566
genes like me logo Genes that share ontologies with SLC25A12: view

Pathways for SLC25A12 Gene

genes like me logo Genes that share pathways with SLC25A12: view

Gene Ontology (GO) - Biological Process for SLC25A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0015810 aspartate transport IDA 11566871
GO:0015813 L-glutamate transport IDA 11566871
genes like me logo Genes that share ontologies with SLC25A12: view

Compounds for SLC25A12 Gene

(2) HMDB Compounds for SLC25A12 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
L-Aspartic acid
  • (+)-Aspartate
56-84-8

(1) Drugbank Compounds for SLC25A12 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Aspartic Acid
  • (+)-Aspartic acid
56-84-8 target

(3) Novoseek inferred chemical compound relationships for SLC25A12 Gene

Compound -log(P) Hits PubMed IDs
aspartate 53.2 6
glutamate 40.5 5
calcium 0.78 2
genes like me logo Genes that share compounds with SLC25A12: view

Transcripts for SLC25A12 Gene

Unigene Clusters for SLC25A12 Gene

Solute carrier family 25 (aspartate/glutamate carrier), member 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - - - -
SP3:
SP4:

Relevant External Links for SLC25A12 Gene

GeneLoc Exon Structure for
SLC25A12
ECgene alternative splicing isoforms for
SLC25A12

Expression for SLC25A12 Gene

mRNA expression in normal human tissues for SLC25A12 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A12 Gene

This gene is overexpressed in Muscle - Skeletal (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC25A12 Gene

SOURCE GeneReport for Unigene cluster for SLC25A12 Gene Hs.470608

mRNA Expression by UniProt/SwissProt for SLC25A12 Gene

O75746-CMC1_HUMAN
Tissue specificity: High levels in heart and skeletal muscle, low in brain and very low in kidney.
genes like me logo Genes that share expressions with SLC25A12: view

Orthologs for SLC25A12 Gene

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

Orthologs for SLC25A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A12 35
  • 99.71 (n)
  • 99.85 (a)
SLC25A12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A12 35
  • 93.87 (n)
  • 97.48 (a)
SLC25A12 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A12 35
  • 93.75 (n)
  • 97.49 (a)
SLC25A12 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a12 35
  • 88.07 (n)
  • 96.89 (a)
Slc25a12 16
Slc25a12 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A12 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A12 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A12 35
  • 80.33 (n)
  • 87.16 (a)
SLC25A12 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A12 36
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.3511 35
slc25a12 35
  • 70.69 (n)
  • 78.69 (a)
slc25a12 36
  • 74 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000958 35
  • 57.78 (n)
  • 61.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta aralar1 35
  • 59.11 (n)
  • 60.49 (a)
aralar1 37
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea K02F3.2 35
  • 56.49 (n)
  • 55.73 (a)
K02F3.2 36
  • 51 (a)
OneToMany
K02F3.2 37
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGC1 36
  • 27 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01241 35
  • 51 (n)
  • 46.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5735 36
  • 63 (a)
ManyToMany
Species with no ortholog for SLC25A12:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC25A12 Gene

ENSEMBL:
Gene Tree for SLC25A12 (if available)
TreeFam:
Gene Tree for SLC25A12 (if available)

Paralogs for SLC25A12 Gene

Paralogs for SLC25A12 Gene

Selected SIMAP similar genes for SLC25A12 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC25A12: view

Variants for SLC25A12 Gene

Sequence variations from dbSNP and Humsavar for SLC25A12 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs11757 -- 171,784,535(-) TGTCA(C/G)TGTGC utr-variant-3-prime, nc-transcript-variant
rs908670 -- 171,833,670(+) ATTCC(C/T)ATCTC intron-variant
rs908671 -- 171,833,755(+) TCCCT(C/G)CATCT intron-variant
rs925880 -- 171,792,113(-) CTGCC(A/G)CTAAA intron-variant
rs925881 -- 171,847,131(+) TCTGA(C/T)ACTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A12 Gene

Variant ID Type Subtype PubMed ID
nsv834457 CNV Loss 17160897
esv2721130 CNV Deletion 23290073
esv2674991 CNV Deletion 23128226
dgv4362n71 CNV Loss 21882294

Relevant External Links for SLC25A12 Gene

HapMap Linkage Disequilibrium report
SLC25A12
Human Gene Mutation Database (HGMD)
SLC25A12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A12 Gene

Disorders for SLC25A12 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for SLC25A12 Gene including...

Search for SLC25A12 Gene in MalaCards »

(1) OMIM Diseases for SLC25A12 Gene (603667)

UniProtKB/Swiss-Prot

CMC1_HUMAN
  • Global cerebral hypomyelination (GCHM) [MIM:612949]: A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. {ECO:0000269 PubMed:19641205, ECO:0000269 PubMed:24515575}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SLC25A12 Gene

Relevant External Links for SLC25A12

Genetic Association Database (GAD)
SLC25A12
Human Genome Epidemiology (HuGE) Navigator
SLC25A12
genes like me logo Genes that share disorders with SLC25A12: view

Publications for SLC25A12 Gene

  1. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PMID: 11566871) Palmieri L. … Palmieri F. (EMBO J. 2001) 2 3 4 23
  2. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. (PMID: 10702666) Crackower M.A. … Scherer S.W. (Cytogenet. Cell Genet. 1999) 2 3 23
  3. AGC1 deficiency associated with global cerebral hypomyelination. (PMID: 19641205) Wibom R. … Wedell A. (N. Engl. J. Med. 2009) 3 4 23
  4. Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. (PMID: 9722566) Del Arco A. … Satrustegui J. (J. Biol. Chem. 1998) 2 3 4
  5. Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. (PMID: 17151801) Correia C. … Vicente A.M. (J Autism Dev Disord 2006) 3 25 48

Products for SLC25A12 Gene

Sources for SLC25A12 Gene

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