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SLC25A12 Gene

protein-coding   GIFtS: 54

GC02M172349
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
AGC1 2
ARALAR 2, 5
ARALAR1 3
Aralar 1
Descriptions
Mitochondrial aspartate glutamate carrier 1 2, 3
Solute carrier family 25 member 12 3
araceli hiperlarga 2
calcium binding mitochondrial carrier superfamily member
Aralar1 2
solute carrier family 25 (mitochondrial carrier, Aralar),
member 12 2
solute carrier family 25, member 12 2
External Ids
HGNC: 109821
Entrez Gene: 86042
UniProtKB: O757463
Ensembl: ENSG000001158407
Search outside databases for aliases for SLC25A12 gene

Previous GC identifers: GC02M170692 GC02M171182 GC02M172604 GC02M172843 GC02M172466

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SLC25A12:
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 the gene encoding this protein may be associated with
risk of autism. [provided by RefSeq]

UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
Function: Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in
the urea cycle

Gene Wiki entry for SLC25A12

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SLC25A12 gene  

Entrez Gene cytogenetic band: 2q24   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q24

SLC25A12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M172349:     (about GC identifiers)

Start:
172,349,126 bp from pter
End:
172,459,000 bp from pter
Size:
109,875 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein Aralar1  
Size: 678 amino acids; 74762 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Miscellaneous: Binds calcium
Secondary accessions: Q96AM8

REFSEQ proteins: NP_003696.2  

ENSEMBL proteins: 
ENSP00000263812 ENSP00000376371 


Human Recombinant Proteins 
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Browse Purified and Recombinant Proteins at Millipore
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (SLC25A12)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion IDA9722566 11566871
GO:0005743 mitochondrial inner membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane NAS9722566
About this table

Antibodies for SLC25A12: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for SLC25A12

Assays for SLC25A12: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/8 InterPro domains/families (see all 8 ):
 IPR018247 EF_HAND_1
 IPR001993 Mitochondria_substrate_carrier
 IPR011992 EF-Hand_type
 IPR002048 EF_hand_Ca_bd
 IPR002067 Mit_carrier


   GeneDecks  SLC25A12 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry O75746

ProtoNet protein and cluster: O75746

UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
Similarity: Belongs to the mitochondrial carrier family
Similarity: Contains 4 EF-hand domains
Similarity: Contains 3 Solcar repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SLC25A12)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SLC25A12)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003705

              Applied Biosystems Silencer® siRNAs for SLC25A12

              Sigma-Aldrich siRNA and siRNA Panels for SLC25A12  
                     Sigma-Aldrich shRNA for SLC25A12  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003705
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_003705
                                 untagged cDNA clone in CMV expression vector: NM_003705 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_003705

UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
Function: Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in
the urea cycle

4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc25a12):

behavior/neurologicalgrowth/sizelethality-postnatalnervous system

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005215 transporter activity IEA--
GO:0005313 L-glutamate transmembrane transporter activity IDA11566871
GO:0005509 calcium ion binding IDA9722566
GO:0005515 protein binding IPI17353931
GO:0015183 L-aspartate transmembrane transporter activity IDA11566871
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section



5/9 Interacting proteins for SLC25A12 (ENSP000002638123 O757461) via UniProtKB, MINT, and/or STRING (see all 9 )
InteractantInteraction Details
GeneCardExternal ID(s)
C20orf24Q9BUV81EBI-1047585, EBI-1050079
PELOQ9BRX21EBI-1047585, EBI-1043580
PHLDA3Q9Y5J51EBI-1047585, EBI-1055859
PNKPQ96T601EBI-1047585, EBI-1045072
TIMM8AENSP000003619933STRING (score=.923)
About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport IEA--
GO:0015810 aspartate transport IDA11566871
GO:0015813 L-glutamate transport IDA11566871
GO:0043490 malate-aspartate shuttle IDA11566871
GO:0051592 response to calcium ion IDA11566871
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SLC25A12
1 Novoseek chemical compound relationship for SLC25A12 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
calcium 6.48 2 15254020 (1), 10642534 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SLC25A12)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SLC25A12)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003705

              Sigma-Aldrich siRNA and siRNA Panels for SLC25A12  
                     Sigma-Aldrich shRNA for SLC25A12  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_003705  

REFSEQ mRNAs for SLC25A12 gene: 

NM_003705.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_003705  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003705
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_003705
                                 untagged cDNA clone in CMV expression vector: NM_003705 

Additional cDNA sequence: 

AJ496568.1 AK022828.1 AK054941.1 AK091071.1 AK294638.1 BC016932.1 Y14494.1 

13 DOTS entries:

DT.416086  DT.425367  DT.95274275  DT.40106563  DT.100677634  DT.100700657  DT.91656694  DT.95274274 
DT.120943153  DT.91937744  DT.91944731  DT.99956002  DT.91920012 

24/188 AceView cDNA sequences (see all 188 ):

BM709724 BM845414 AA477641 AA780412 AA324131 AA610014 AI887457 BM854164 
AI245967 BQ001023 CK904577 BQ888240 BE218551 AI569618 BM761989 CB155371 
BM844833 AW337372 BM142257 BU193279 Z43182 Z41030 BQ925545 BM054890 

highest scoring ESTs for SLC25A12:

AJ496568 AK022828 AK091071 AL597747 AL707680 AU130794 BC016932 BG715365 BI552191 BQ072787 

Unigene Cluster for SLC25A12:

Solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Hs.470608  [show with all ESTs]
Unigene Representative Sequence: NM_003705


GeneLoc Exon Structure

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

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:                                                                                                                                    

About this scheme

ECgene alternative splicing isoforms for SLC25A12

2 Ensembl transcripts including schematic representations:
ENST00000263812  ENST00000392592  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SLC25A12 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for SLC25A12

1 / 2 / 3

6 probe-sets matching SLC25A12 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
80142_at2, 3 U95-E 1 1.00 1.00 0.73 1.00 AI245967 0.40 1.00 0.76 1
33256_at2, 3 U95-A 1 1.00 1.00 0.94 1.02 W28626 0.80 1.00 0.91 1

203339_at2, 3 U133-A 1 1.00 1.00 -- -- AI887457 0.60 1.00 0.82 1

203340_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_003705 0.60 1.00 0.82 1

203339_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

203340_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  SLC25A12 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CCAGTGGATG

SOURCE GeneReport for Unigene cluster: Hs.470608

Expression variation in blood from EXPOLDB for SLC25A12

UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
Tissue specificity: High levels in heart and skeletal muscle, low in brain and very low in kidney

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for SLC25A12 gene from 5/12 species (see all 12 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
SLC25A121   -- solute carrier family 25 (mitochondrial carrier, Aralar), more 93.71(n)
97.35(a)
478798  XM_855334.1  XP_860427.1 
chimpanzee
(Pan troglodytes)
SLC25A121   -- solute carrier family 25 (mitochondrial carrier, Aralar), more 99.71(n)
99.85(a)
459736  XM_515903.2  XP_515903.2 
cow
(Bos taurus)
SLC25A121   -- solute carrier family 25 (mitochondrial carrier, Aralar), more 93.75(n)
97.32(a)
539494  XM_877687.2  XP_882780.2 
mouse
(Mus musculus)
Slc25a121, 5 25
solute carrier family 25 (mitochondrial carrier, Aralar), more1, 5 88.07(n)1
96.89(a)1
788301  NM_172436.31  NP_766024.11 
 AI8395315  AK0191505  (see all 30)
chicken
(Gallus gallus)
SLC25A121   -- solute carrier family 25 (mitochondrial carrier, Aralar), more 80.86(n)
88.11(a)
431387  XM_428938.2  XP_428938.2 
About this table        Species with no ortholog for SLC25A12

ENSEMBL Gene Tree for SLC25A12
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for SLC25A12 gene
SLC25A132  SLC25A182  SLC25A222  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/493 NCBI SNPs in SLC25A12 are shown (see all 493 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 109)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 2 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs104973741,2
A,C,F,H172348869(-) ACTCAT/CCAAGG 1 -- ng5116Minor allele frequency- C:0.26NS NA EU EA WA 1028
rs117571,2
A,C,F,H172349291(-) TGTCAG/CTGTGC 1 -- ut31 ese313Minor allele frequency- C:0.33MN NA EU EA WA 1294
rs174995441,2
C,F,H172348980(+) CTCTGC/TGCTAG 1 -- ng517Minor allele frequency- T:0.07NA EU EA WA 562
rs130358251,2
A,H172349906(+) TCATAC/TAGAAA 1 -- ut314Minor allele frequency- T:0.00EU EA WA 420
rs355656871,2
C,F172358411(-) GCTCCG/AGGACT 1 Q/R mis15Minor allele frequency- A:0.02NA EU EA WA 496
--
rs168599131,2
F172459520(-) CAATTT/CAGGAG 1 -- ng312Minor allele frequency- C:0.01MN EA 356
rs134293671,2
H172348977(+) TCACTC/TTGCGC 1 -- ng514Minor allele frequency- T:0.00EU EA WA 420
--
rs168599101,2
F172459176(-) TCCGCCCGG/-  
        
CCGGC
1 -- ng312Minor allele frequency- -:0.45MN EA 356
rs18785831,2
A,C,F,H,O172433547(+) GTCATG/ATAACG 1 Y/Y syn18Minor allele frequency- A:0.17EU EA WA 836
rs22928131,2
A,C,F,H,O172352475(+) AAAGAC/TAGCCA 1 -- int111Minor allele frequency- T:0.16NA EA EU WA 910
About this table

HapMap Linkage Disequilibrium images for SLC25A12 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 603667

Genetic Association Database: SLC25A12
Human Genome Epidemiology Navigator: SLC25A12 (10 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/30 PubMed articles for SLC25A12 gene (see all 30 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 8604 HGNC: 10982 AceView: SLC25A12 Ensembl:ENSG00000115840 euGenes: HUgn8604
ECgene: SLC25A12 H-InvDB: SLC25A12
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for SLC25A12:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for SLC25A12-related products

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 Millipore Preclinical / Clinical Development Services
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 Predesigned and custom siRNAs for SLC25A12 Browse antibodies at Sigma-Aldrich
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 Lentivirus-delivered shRNAs for SLC25A12 Browse small molecules at Sigma-Aldrich
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