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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC25A1 Gene

protein-coding   GIFtS: 67
GCID: GC22M019163

Solute Carrier Family 25 (Mitochondrial Carrier; Citrate...

(Previous names: solute carrier family 20 (mitochondrial citrate transporter),...)
(Previous symbol: SLC20A3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 25 (Mitochondrial Carrier; Citrate Transporter),
Member 11 2
     Tricarboxylate Carrier Protein2 3
SLC20A31 2 3 5     D2L2AD2
CTP2 3 5     SEA2
Solute Carrier Family 20 (Mitochondrial Citrate Transporter), Member 31 2     Tricarboxylate Transport Protein, Mitochondrial2
Citrate Transport Protein2 3     Solute Carrier Family 25 Member 13

External Ids:    HGNC: 109791   Entrez Gene: 65762   Ensembl: ENSG000001000757   OMIM: 1903155   UniProtKB: P530073   
ORGUL members:         
NONCODE14:n409332      

Export aliases for SLC25A1 gene to outside databases

Previous GC identifers: GC22M016103 GC22M017537 GC22M002784


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

Entrez Gene summary for SLC25A1 Gene:
The mitochondrial tricarboxylate transporter (also called citrate transport protein, or CTP) is responsible for
the movement of citrate across the mitochondrial inner membrane (Kaplan et al., 1993 (PubMed 8514800)).(supplied
by OMIM, Jan 2011)

GeneCards Summary for SLC25A1 Gene: 
SLC25A1 (solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SLC25A1 include velocardiofacial syndrome, and digeorge syndrome, and among its related super-pathways are Glucose metabolism and Fatty Acyl-CoA Biosynthesis. GO annotations related to this gene include citrate transmembrane transporter activity.

UniProtKB/Swiss-Prot: TXTP_HUMAN, P53007
Function: Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it
provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway

Gene Wiki entry for SLC25A1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011519.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC25A1 gene promoter:
         AhR   USF1   Sp1   GATA-2   AREB6   FAC1   USF-1   ARP-1   IRF-7A   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11

SLC25A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019163:  view genomic region     (about GC identifiers)

Start:
19,163,094 bp from pter      End:
19,166,343 bp from pter
Size:
3,250 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TXTP_HUMAN, P53007 (See protein sequence)
Recommended Name: Tricarboxylate transport protein, mitochondrial precursor  
Size: 311 amino acids; 34013 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: A8K8E8 Q9BSK6

Explore the universe of human proteins at neXtProt for SLC25A1: NX_P53007

Explore proteomics data for SLC25A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P53007

  • SLC25A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001243463.1  NP_005975.1  

    ENSEMBL proteins: 
     ENSP00000215882   ENSP00000401480  
    Reactome Protein details: P53007
    Human Recombinant Protein Products for SLC25A1: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral to membrane IEA--

    SLC25A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial citrate transporter 
    Mitochondrial di- and tri-carboxylic acid transporters

    3 InterPro protein domains:
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry P53007

    ProtoNet protein and cluster: P53007

    UniProtKB/Swiss-Prot: TXTP_HUMAN, P53007
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TXTP_HUMAN, P53007
    Function: Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it
    provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway

         Genatlas biochemistry entry for SLC25A1:
    solute carrier family 25 mitochondrial,member A1,citrate transporter,disrupted by ADU breakpoint

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015137citrate transmembrane transporter activity TAS8666394
         
    SLC25A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A1:
     Synthetic lethal with Ras 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidSLC25A1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC25A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glucose metabolism
    Glucose metabolism0.50
    Gluconeogenesis0.50
    2Fatty Acyl-CoA Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.78
    Triglyceride Biosynthesis0.47
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    5MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for SLC25A1 (see all 8)
        Metabolism of carbohydrates
    Metabolism
    Triglyceride Biosynthesis
    Fatty acid, triacylglycerol, and ketone body metabolism
    Gluconeogenesis



    SLC25A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/291 Interacting proteins for SLC25A1 (P530072, 3 ENSP000002158824) via UniProtKB, MINT, STRING, and/or I2D (see all 291)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49457 I2D: score=2 
    HSPD1P108092, 3MINT-8079030 I2D: score=1 
    MRPL2Q5T6532, 3MINT-8079030 I2D: score=1 
    YME1L1Q96TA22, 3MINT-8079030 I2D: score=1 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006810transport ----
    GO:0006843mitochondrial citrate transport TAS--

    SLC25A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC25A1 (TXTP)

    1 HMDB Compound for SLC25A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--

    1 IUPHAR Ligand for SLC25A1 (Mitochondrial citrate transporter)    About this table 
    LigandTypeActionAffinityPubmed IDs
    1,2,3-benzenetricarboxylic acid
    InhibitorInhibition--

    Search CenterWatch for drugs/clinical trials and news about SLC25A1 / TXTP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC25A1 gene (2 alternative transcripts): 
    NM_001256534.1  NM_005984.3  

    Unigene Cluster for SLC25A1:

    Solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
    Hs.111024  [show with all ESTs]
    Unigene Representative Sequence: NM_001256534
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215882(uc021wlb.1 uc002zoz.3) ENST00000451283(uc002zoy.3)
    ENST00000470922 ENST00000461267 ENST00000468824
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    Additional mRNA sequence: 

    AK292313.1 AK298204.1 BC004980.1 BC008061.2 BC018590.1 HM037273.1 L75823.1 L77567.1 
    NR_033687.2 NR_046298.1 U25147.1 

    22 DOTS entries:

    DT.450055  DT.100031321  DT.95166683  DT.101985047  DT.100884306  DT.100884307  DT.75127184  DT.100884304 
    DT.92444537  DT.100772950  DT.95166678  DT.100884310  DT.92444536  DT.95166686  DT.100697812  DT.92051523 
    DT.102828320  DT.92444539  DT.100649618  DT.100884309  DT.102828321  DT.95166694 

    24/454 AceView cDNA sequences (see all 454):

    CK823503 CR599048 BM710466 CF127022 BM704658 BM709181 BC018590 CR622978 
    BG760237 BM992453 AW170197 BM853730 CR606950 AI742444 CD675679 BU077930 
    BU728883 BM788303 BF970333 AW246634 AW612294 BQ668475 BX367507 BQ231074 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A1 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
    SP1:              -     -     -     -                             -                                             
    SP2:                                                              -                                             
    SP3:                                                              -                                             
    SP4:                                                              -                                             
    SP5:                                                              -                                             


    ECgene alternative splicing isoforms for SLC25A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC25A1 expression in normal human tissues (normalized intensities)      SLC25A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGTGTCA
    SLC25A1 Expression
    About this image


    SLC25A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Eye (Sensory Organs)
             optic nerve head astrocytes   
     
     Brain (Nervous System)
             optic nerve head astrocytes   
     
     Oral Cavity (Gastrointestinal Tract)
             salivary gland   

    See SLC25A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A1

    SOURCE GeneReport for Unigene cluster: Hs.111024
        SABiosciences Expression via Pathway-Focused PCR Array including SLC25A1: 
              Mitochondria in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for SLC25A1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a11 , 5 solute carrier family 25 (mitochondrial carrier, citrate more1, 5 88.21(n)1
    94.21(a)1
      16 (11.11 cM)5
    133581  NM_153150.21  NP_694790.11 
     179252115 
    chicken
    (Gallus gallus)
    Aves SLC25A11 solute carrier family 25 (mitochondrial carrier; citrate more 80.65(n)
    87.42(a)
      416764  XM_415059.3  XP_415059.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    GL343282.1(823691-861089)
    African clawed frog
    (Xenopus laevis)
    Amphibia slc25a1-prov2 solute carrier family 25 (mitochondrial carrier; citrate more 75.97(n)    BC041303.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635782 hypothetical protein MGC63578 73.98(n)   393579  BC056787.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67823
    fabp1
    carrier3
    fatty acid bindin protein1
    66(a)3
    66.78(n)1
    67.58(a)1
      37722321  NM_001032006.11  NP_001027177.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K11H3.31 , 3 Mitochondrial carrier family3
    Protein K11H3.31
    65(a)3
    56.77(n)1
    65.02(a)1
      III(9923601-9924980)3
    1763981  NM_066786.31  NP_499187.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CTP1(YBR291C)4
    CTP11
    Mitochondrial inner membrane citrate transporter, member more4
    Ctp1p1
    46.52(n)1
    40.65(a)1
      2(784572-783673)4
    8525941, 4  NP_009850.11, 4 


    ENSEMBL Gene Tree for SLC25A1 (if available)
    TreeFam Gene Tree for SLC25A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A1 gene
    5 SIMAP similar genes for SLC25A1 using alignment to 3 protein entries:     TXTP_HUMAN (see all proteins):
    FLJ00351    SLC25A45    SLC25A21    SLC25A47    SLC25A17

    SLC25A1 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for SLC25A1
    PGOHUM00000242831 PGOHUM00000249101 PGOHUM00000234273 PGOHUM00000233319 PGOHUM00000233347


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/185 SNPs in SLC25A1 are shown (see all 185)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0694934
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694932 S W mis40--------
    VAR_0694974
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694972 Y C mis40--------
    VAR_0694924
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694922 G R mis40--------
    VAR_0694964
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694962 R G mis40--------
    VAR_0694914
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694912 E Q mis40--------
    VAR_0694944
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694942 M T mis40--------
    VAR_0694904
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694902 P L mis40--------
    VAR_0694954
    Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)4--see VAR_0694952 R C mis40--------
    rs121706451,2
    H--19162658(+) GCAGCC/TCATTT 4 -- int14Minor allele frequency- T:0.00NS EA 420
    rs8076681,2
    C,F,A,H--19162686(+) GGCATG/ACCCCA 4 -- int19Minor allele frequency- A:0.34NA MN WA CSA EA 555

    HapMap Linkage Disequilibrium report for SLC25A1 (19163094 - 19166343 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC25A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    nsv914269CNV Loss21882294
    nsv834122CNV Loss17160897
    dgv4838n71CNV Loss21882294
    nsv914263CNV Gain21882294
    nsv914268CNV Gain21882294


    Human Gene Mutation Database (HGMD): SLC25A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 190315    OMIM disorders: --

    UniProtKB/Swiss-Prot: TXTP_HUMAN, P53007
  • Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]: An autosomal recessive
    neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable
    seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows
    abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 5 diseases for SLC25A1:    About MalaCards
    velocardiofacial syndrome    digeorge syndrome    atherosclerosis    hepatitis
    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for SLC25A1:
    Velocardiofacial syndrome     DiGeorge syndrome

    SLC25A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC25A1
    Human Genome Epidemiology (HuGE) Navigator: SLC25A1 (2 documents)

    Export disorders for SLC25A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC25A1 gene, integrated from 9 sources (see all 46):
    (articles sorted by number of sources associating them with SLC25A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region. (PubMed id 8666394)1, 2, 3 Heisterkamp N.... Groffen J. (1995)
    2. Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. (PubMed id 8660975)1, 2, 9 Goldmuntz E.... Budarf M.L. (1996)
    3. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. (PubMed id 23561848)1, 2 Nota B.... Salomons G.S. (2013)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Organization and sequence of the human gene for the mitochondrial citrate transport protein. (PubMed id 9254007)1, 3 Iacobazzi V....Palmieri F. (1997)
    8. The mitochondrial tricarboxylate transport protein. c DNA cloning, primary structure, and comparison with other mitochondrial transpo rt proteins. (PubMed id 8514800)1, 9 Kaplan R.S....Wood D.O. (1993)
    9. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (2013)
    10. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6576 HGNC: 10979 AceView: SLC25A1 Ensembl:ENSG00000100075 euGenes: HUgn6576
    ECgene: SLC25A1 H-InvDB: SLC25A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC25A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC25A1 gene:
    Search GeneIP for patents involving SLC25A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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