Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SLC25A19 Gene

protein-coding   GIFtS: 57
GCID: GC17M073266

Solute Carrier Family 25 (Mitochondrial Thiamine Pyrophosphate...

(Previous names: solute carrier family 25 (mitochondrial deoxynucleotide...)
(Previous symbol: MCPHA)
  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

Aliases
Solute Carrier Family 25 (Mitochondrial Thiamine Pyrophosphate
Carrier), Member 191 2
     Mitochondrial Uncoupling Protein 12 3
MCPHA1 2 5     THMD32
DNC2 3 5     THMD42
MUP12 3 5     TPC2
Microcephaly, Amish1 2     Mitochondrial Thiamine Pyrophosphate Carrier2
Solute Carrier Family 25 (Mitochondrial Deoxynucleotide Carrier), Member
191 2
     Solute Carrier Family 25 Member 193

External Ids:    HGNC: 144091   Entrez Gene: 603862   Ensembl: ENSG000001254547   OMIM: 6065215   UniProtKB: Q9HC213   

Export aliases for SLC25A19 gene to outside databases

Previous GC identifers: GC17M076328 GC17M073733 GC17M073866 GC17M070780 GC17M068679


(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 SLC25A19 Gene:
This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was
initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into
the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the
mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria.
Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital
microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced
variants, encoding the same protein, have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC25A19 Gene: 
SLC25A19 (solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19) is a protein-coding gene. Diseases associated with SLC25A19 include amish lethal microcephaly, and detrusor sphincter dyssynergia. GO annotations related to this gene include deoxynucleotide transmembrane transporter activity.

UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
Function: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria

Gene Wiki entry for SLC25A19 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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC25A19 gene promoter:
         ER-alpha   STAT1   STAT1beta   NF-kappaB   STAT1alpha   IRF-2   NF-kappaB2   STAT2   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A19 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A19


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

SLC25A19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A19 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073266:  view genomic region     (about GC identifiers)

Start:
73,269,061 bp from pter      End:
73,285,591 bp from pter
Size:
16,531 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: TPC_HUMAN, Q9HC21 (See protein sequence)
Recommended Name: Mitochondrial thiamine pyrophosphate carrier  
Size: 320 amino acids; 35511 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Miscellaneous: The transmembrane helices are not perpendicular to the plane of the membrane, but cross the
membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved
proline residue (By similarity)

Explore the universe of human proteins at neXtProt for SLC25A19: NX_Q9HC21

Explore proteomics data for SLC25A19 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HC21

  • SLC25A19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A19 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001119593.1  NP_001119594.1  NP_068380.3  

    ENSEMBL proteins: 
     ENSP00000462401   ENSP00000397818   ENSP00000385312   ENSP00000402202   ENSP00000319574  
     ENSP00000463795   ENSP00000462214   ENSP00000463039   ENSP00000463720   ENSP00000462299  
     ENSP00000463428   ENSP00000462504   ENSP00000464457   ENSP00000364410  

    Human Recombinant Protein Products for SLC25A19: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SLC25A19
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SLC25A19
    GenScript Custom Purified and Recombinant Proteins Services for SLC25A19
    Novus Biologicals SLC25A19 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    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 NAS--
    GO:0016021integral to membrane IEA--

    SLC25A19 for ontologies           About GeneDecksing



    SLC25A19 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SLC25A19
    GenScript Custom Superior Antibodies Services for SLC25A19
    Novus Biologicals SLC25A19 Antibody
    Abcam antibodies for SLC25A19
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for SLC25A19
    LSBio Antibodies in human, mouse, rat for SLC25A19 

    Assay Products for SLC25A19: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SLC25A19
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC25A19
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (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: Deoxynucleotide carrier 1 
    Mitochondrial nucleotide 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 Q9HC21

    ProtoNet protein and cluster: Q9HC21

    UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A19 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: TPC_HUMAN, Q9HC21
    Function: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030233deoxynucleotide transmembrane transporter activity TAS11226231
         
    SLC25A19 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SLC25A19:
     Decreased TP53 protein express  Increased cell number in G2M,  

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc25a19):
     cellular  craniofacial  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 

    SLC25A19 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc25a19tm1Mjl for SLC25A19

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC25A19 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC25A19

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC25A19 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC25A19 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC25A19
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SLC25A19
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A19 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SLC25A19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC25A19

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLC25A19
    Sirion Biotech Customized adenovirus for overexpression of SLC25A19

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SLC25A19 (see all 15)
    OriGene ORF clones in mouse, rat for SLC25A19
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC25A19 (NM_021734)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A19
    Sirion Biotech Customized lentivirus for stable overexpression of SLC25A19 
                         Customized lentivirus expression plasmids for stable overexpression of SLC25A19 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SLC25A19
    Search LifeMap BioReagents cell lines for SLC25A19
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A19


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A19

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/7 Interacting proteins for SLC25A19 (Q9HC213 ENSP000003195744) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSH2P432463I2D: score=4 
    CDC7O003113I2D: score=1 
    CLN3Q132863I2D: score=1 
    IDI1Q139073I2D: score=1 
    RPS4XP627013I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0030302deoxynucleotide transport NAS11226231

    SLC25A19 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

    SLC25A19 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC25A19 (TPC)

    5 Novoseek inferred chemical compound relationships for SLC25A19 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nucleoside 48 2 11226231 (1), 18280798 (1)
    fatty acid 29 3 9765271 (1), 12826670 (1)
    thymidine 15.8 1 15539640 (1)
    lipid 7.75 1 11870545 (1)
    glucose 5.93 1 12565902 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC25A19 / TPC

    (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 SLC25A19 gene (3 alternative transcripts): 
    NM_001126121.1  NM_001126122.1  NM_021734.4  

    Unigene Cluster for SLC25A19:

    Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
    Hs.514470  [show with all ESTs]
    Unigene Representative Sequence: NR_036520
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582822 ENST00000416858(uc010dge.3 uc002jnv.4) ENST00000402418(uc002jns.4)
    ENST00000442286 ENST00000320362(uc002jnu.4 uc002jnw.4 uc002jnt.4)
    ENST00000580994 ENST00000583332 ENST00000580273 ENST00000579207 ENST00000580151
    ENST00000581988 ENST00000582778 ENST00000584438 ENST00000579228 ENST00000375261

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC25A19
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SLC25A19
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A19 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SLC25A19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC25A19
    Clone
    Products:
         
    OriGene clones in human, mouse for SLC25A19 (see all 15)
    OriGene ORF clones in mouse, rat for SLC25A19
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC25A19 (NM_021734)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A19
    Sirion Biotech Customized lentivirus for stable overexpression of SLC25A19 
                         Customized lentivirus expression plasmids for stable overexpression of SLC25A19 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SLC25A19
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A19
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC25A19
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC25A19
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC25A19

    Additional mRNA sequence: 

    AF182404.1 AJ251857.1 AK075239.1 AK097882.1 AK225881.1 AL833387.1 AY346372.1 BC001075.2 
    BC005120.1 BC021162.2 NR_036520.1 

    12 DOTS entries:

    DT.416044  DT.100780056  DT.75153976  DT.95224648  DT.100780058  DT.120905341  DT.92432362  DT.95240793 
    DT.100025021  DT.120905349  DT.100774987  DT.40200324 

    24/189 AceView cDNA sequences (see all 189):

    CR619889 AA282854 AI016017 CR624640 BU634181 BM476254 BX439332 CR590620 
    CR626101 CR623625 AA814840 CA430830 T31632 AV661384 AA283632 BU177306 
    BC021162 BG610755 BM011240 BX421599 CB305599 CA308303 BE795546 AI819427 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A19 (see all 12)    About this scheme

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


    ECgene alternative splicing isoforms for SLC25A19

    (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

    SLC25A19 expression in normal human tissues (normalized intensities)      SLC25A19 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC25A19 Expression
    About this image


    SLC25A19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Adipose (Muscoskeletal System)
             Thoracic Perivascular Adipose
     
     Blood (Respiratory System)
             alveolar macrophages   

    See SLC25A19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A19

    SOURCE GeneReport for Unigene cluster: Hs.514470

    UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
    Tissue specificity: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung,
    testis, spleen, and brain

        SABiosciences Expression via Pathway-Focused PCR Array including SLC25A19: 
              Mitochondria in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SLC25A19
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A19
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC25A19
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC25A19
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC25A19
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A19

    (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 eukaryotes.

    Orthologs for SLC25A19 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a191 , 5 solute carrier family 25 (mitochondrial thiamine pyrophosphate more1, 5 80.63(n)1
    76.19(a)1
      11 (80.91 cM)5
    672831  NM_026071.31  NP_080347.11 
     1156141785 
    chicken
    (Gallus gallus)
    Aves SLC25A191 solute carrier family 25 (mitochondrial thiamine pyrophosphate more 67.82(n)
    66.35(a)
      422123  XM_420126.3  XP_420126.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A196
    Uncharacterized protein
    66(a)
    1 ↔ 1
    2(114622173-114630505)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.39332 Transcribed sequence with weak similarity to protein more 72.94(n)    AL862936.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj01c082 Danio rerio clone RK050A1F10 solute carrier family more 73.62(n)    AY394951.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG66083
    Tpc11
    carrier3
    Thiamine pyrophosphate carrier protein 11
    37(a)
    (best of 2)3
    47.16(n)1
    39.13(a)1
      86C73
    413161  NM_141777.31  NP_650034.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C42C1.103
    hpo-121
    mitochondrial carrier protein3
    Protein HPO-121
    42(a)3
    49.22(n)1
    44.63(a)1
      IV(12283366-12285013)3
    1834021  NM_069936.31  NP_502337.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TPC1(YGR096W)4
    TPC11
    Mitochondrial membrane transporter that mediates uptake more4
    Tpc1p1
    42.57(n)1
    30.18(a)1
      7(676621-677565)4
    8529881, 4  NP_011610.31  NP_011610.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G489701 Mitochondrial substrate carrier family protein 49.53(n)
    45.07(a)
      834956  NM_124274.3  NP_199708.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g09342001 hypothetical protein 50.17(n)
    43.21(a)
      4326831  NM_001051844.1  NP_001045309.1 


    ENSEMBL Gene Tree for SLC25A19 (if available)
    TreeFam Gene Tree for SLC25A19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A19 gene
    8 SIMAP similar genes for SLC25A19 using alignment to 11 protein entries:     TPC_HUMAN (see all proteins):
    DKFZp667O1614    SLC25A22    SLC25A25    SLC25A23    SLC25A30    UCP3
    SLC25A16    UCP2

    SLC25A19 for paralogs           About GeneDecksing



    (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

    10/474 SNPs in SLC25A19 are shown (see all 474)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0141034
    Microcephaly, Amish type (MCPHA)4--see VAR_0141032 G A mis40--------
    VAR_0651254
    Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4)4--see VAR_0651252 G S mis40--------
    rs30826411,2
    C--73269841(-) aaTAA-/AATA  
     A
    /AATAG
    TTTGC
    3 -- int10--------
    rs713616661,2
    C--73271067(+) TTTTT-/T/TTT 
            
    TTTTT
    6 -- int1 cds11NA 2
    rs670400591,2
    C--73271078(-) GTCTC-/AAAAAAAAAA
    /AAAAAAAAAAAA
    AAAAA
    6 -- int1 cds12NA 4
    rs1135519051,2
    C,F--73272664(+) GGCTGC/GTCTAG 3 -- int11Minor allele frequency- G:0.00WA 2
    rs3773877481,2
    C--73272931(+) TTTTT-/TTTTTT 3 -- int10--------
    rs32149171,2
    C--73274500(+) TAAAA-/ATACCA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs771829781,2
    C--73275069(+) AATAA-/ATAA  
            
    TAAAA
    3 -- int10--------
    rs1117324441,2
    C--73275795(+) ATGTTA/GGCCAG 3 -- int10--------

    HapMap Linkage Disequilibrium report for SLC25A19 (73269061 - 73285591 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC25A19:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671377CNV Deletion23128226
    esv2716237CNV Deletion23290073
    nsv908760CNV Loss21882294
    nsv908761CNV Loss21882294
    nsv908758CNV Loss21882294
    nsv510727CNV Loss20534489


    Human Gene Mutation Database (HGMD): SLC25A19
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A19
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A19

    (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: 606521   
    OMIM disorders: 607196  
    UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
  • Microcephaly, Amish type (MCPHA) [MIM:607196]: A disorder characterized by severe congenital microcephaly
    and severe 2-ketoglutaric aciduria leading to death within the first year. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive
    polyneuropathy type (THMD4) [MIM:613710]: A disease characterized by recurrent episodes of flaccid paralysis and
    encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for SLC25A19:    About MalaCards
    amish lethal microcephaly    detrusor sphincter dyssynergia    nasal cavity squamous cell carcinoma    microcephaly
    polyneuropathy    paralysis    metabolic disorders    graves' disease
    myopathy    insulin resistance    neuropathy    obesity
    squamous cell carcinoma    anemia    adenocarcinoma

    3 diseases from the University of Copenhagen DISEASES database for SLC25A19:
    Nasal cavity squamous cell carcinoma     Microcephaly     Detrusor sphincter dyssynergia

    SLC25A19 for disorders           About GeneDecksing

    GeneTests: SLC25A19
    GeneReviews: SLC25A19
    Genetic Association Database (GAD): SLC25A19
    Human Genome Epidemiology (HuGE) Navigator: SLC25A19 (1 document)

    Export disorders for SLC25A19 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 SLC25A19 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with SLC25A19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. (PubMed id 11226231)1, 2, 3, 9 Dolce V....Walker J.E. (2001)
    2. SLC25A19 mutation as a cause of neuropathy and bilate ral striatal necrosis. (PubMed id 19798730)1, 2, 3 Spiegel R....Elpeleg O. (2009)
    3. The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier. (PubMed id 18280798)1, 2, 9 Kang J. and Samuels D.C. (2008)
    4. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). (PubMed id 11474176)1, 3, 9 Iacobazzi V....Palmieri F. (2001)
    5. Mutant deoxynucleotide carrier is associated with congenital microcephaly. (PubMed id 12185364)1, 2, 9 Rosenberg M.J....Biesecker L.G. (2002)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. 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)
    8. Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake. (PubMed id 15539640)1, 9 Lam W....Cheng Y.C. (2005)
    9. The mitochondrial transporter family SLC25: identifica tion, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (2013)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 60386 HGNC: 14409 AceView: SLC25A19 Ensembl:ENSG00000125454 euGenes: HUgn60386
    ECgene: SLC25A19 H-InvDB: SLC25A19

    (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 SLC25A19 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A19

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC25A19 gene:
    Search GeneIP for patents involving SLC25A19

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SLC25A19  
     OriGene qPCR primer pairs and template standards for SLC25A19   OriGene Protein Over-expression Lysate for SLC25A19  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SLC25A19  
     OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A19   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SLC25A19   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SLC25A19   OriGene Custom Protein Services for SLC25A19  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC25A19
     QIAGEN SeqTarget long-range PCR primers for resequencing SLC25A19
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A19
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC25A19
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC25A19
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC25A19
     GenScript Custom Purified and Recombinant Proteins Services for SLC25A19 GenScript cDNA clones with any tag delivered in your preferred vector for SLC25A19
     GenScript Custom Assay Services for SLC25A19 GenScript Custom Superior Antibodies Services for SLC25A19
     GenScript Custom overexpressing Cell Line Services for SLC25A19 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SLC25A19 promoter
     Search Chromatin IP Primers for SLC25A19
     RT2 qPCR Primer Assay in human, mouse, rat SLC25A19
     Search GNC Networks for SLC25A19
     SABiosciences PCR Arrays including human, mouse, rat SLC25A19
     Search Tocris compounds for SLC25A19 (TPC)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SLC25A19 antibodies
     SLC25A19 proteins
     Antibodies for SLC25A19
     See all of Abcam's Antibodies, Kits and Proteins for SLC25A19
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for SLC25A19
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A19
     SwitchGear 3'UTR luciferase reporter plasmids for SLC25A19
     SwitchGear Promoter luciferase reporter plasmids for SLC25A19
     ThermoFisher Antibodies for SLC25A19
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A19
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC25A19
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC25A19
    Customized:
     lentivirus for stable overexpression of SLC25A19
     lentivirus expression plasmids for stable overexpression of SLC25A19
     adenovirus for overexpression of SLC25A19
     LSBio Antibodies in human, mouse, rat for SLC25A19
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SLC25A19 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4