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SLC25A15 Gene

protein-coding   GIFtS: 58
GCID: GC13P041363

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


(Previous symbols: ORNT1, HHH)
  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)
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Aliases
Solute Carrier Family 25 (Mitochondrial Carrier; Ornithine Transporter)
Member 151 2
     Solute Carrier Family 25 Member 152 3
ORNT11 2 3 5     D13S3272
HHH1 2 5     ORC12
Ornithine Transporter 11 2     Mitochondrial Ornithine Transporter 12

External Ids:    HGNC: 109851   Entrez Gene: 101662   Ensembl: ENSG000001027437   OMIM: 6038615   UniProtKB: Q9Y6193   

Export aliases for SLC25A15 gene to outside databases

Previous GC identifers: GC13P039350 GC13P035350 GC13P040300 GC13P039161 GC13P040261 GC13P022163


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC25A15 Gene:
This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the
inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component
of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine.
Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a
pseudogene of this locus on the Y chromosome.(provided by RefSeq, May 2009)

GeneCards Summary for SLC25A15 Gene:
SLC25A15 (solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15) is a protein-coding gene. Diseases associated with SLC25A15 include ornithine translocase deficiency, and gyrate atrophy. GO annotations related to this gene include L-ornithine transmembrane transporter activity. An important paralog of this gene is SLC25A2.

UniProtKB/Swiss-Prot: ORNT1_HUMAN, Q9Y619
Function: Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A15 gene promoter:
         Max1   STAT1   STAT4   STAT1beta   STAT5A   STAT1alpha   STAT2   Cart-1   STAT3   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SLC25A15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A15


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

Entrez Gene cytogenetic band: 13q14   Ensembl cytogenetic band:  13q14.11   HGNC cytogenetic band: 13q14

SLC25A15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A15 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P041363:  view genomic region     (about GC identifiers)

Start:
41,363,547 bp from pter      End:
41,386,596 bp from pter
Size:
23,050 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ORNT1_HUMAN, Q9Y619 (See protein sequence)
Recommended Name: Mitochondrial ornithine transporter 1  
Size: 301 amino acids; 32736 Da
Secondary accessions: Q5VZD8 Q9HC45

Explore the universe of human proteins at neXtProt for SLC25A15: NX_Q9Y619

Explore proteomics data for SLC25A15 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC25A15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055067.1  
    ENSEMBL proteins: 
     ENSP00000342267   ENSP00000415826   ENSP00000431429  
    Reactome Protein details: Q9Y619

    SLC25A15 Human Recombinant Protein Products:

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    Novus Biologicals SLC25A15 Lysate
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    Browse Proteins at Cloud-Clone Corp.

    SLC25A15 Antibody Products:

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    Search LSBio for Antibodies for SLC25A15

    SLC25A15 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    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)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial ornithine transporter 1
    Mitochondrial ornithine transporters

    2 InterPro protein domains:
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q9Y619

    ProtoNet protein and cluster: Q9Y619

    UniProtKB/Swiss-Prot: ORNT1_HUMAN, Q9Y619
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A15 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ORNT1_HUMAN, Q9Y619
    Function: Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix

         Genatlas biochemistry entry for SLC25A15:
    solute carrier family 25,member A15,ornithine transporter,inner mitochondrial membrane,expressed in liver and
    pancreas with variated changes in dietary protein linked to ornithine translocase

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000064L-ornithine transmembrane transporter activity TAS10369256
         
    SLC25A15 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A15
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    miRNA
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    miRTarBase miRNAs that target SLC25A15:
    hsa-mir-423-3p (MIRT042626), hsa-mir-7-5p (MIRT025968), hsa-mir-375 (MIRT020002), hsa-mir-193b-3p (MIRT016548), hsa-mir-24-3p (MIRT030568)

    Block miRNA regulation of human, mouse, rat SLC25A15 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A15 (see all 22):
    hsa-miR-498 hsa-miR-142-5p hsa-miR-125a-5p hsa-miR-29c hsa-miR-29a hsa-miR-138-2* hsa-miR-3680 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A15 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A15

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    GenScript: all cDNA clones in your preferred vector: SLC25A15 (NM_014252)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A15


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ORNT1_HUMAN, Q9Y619: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    SLC25A15 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC25A15 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Urea cycle0.00
    2Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC25A15
        Urea cycle



    SLC25A15 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC25A15: 
              Mitochondrial Energy Metabolism in human mouse rat
              Mitochondria in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC25A15

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SLC25A15 (ENSP000003422674) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASS1ENSP000002530044STRING: ENSP00000253004
    OTCENSP000000390074STRING: ENSP00000039007
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    UBCENSP000003448184STRING: ENSP00000344818
    SIAH1ENSP000003491564STRING: ENSP00000349156
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0000066mitochondrial ornithine transport TAS10369256
    GO:0006520cellular amino acid metabolic process TAS10369256
    GO:0006810transport ----
    GO:0034641cellular nitrogen compound metabolic process TAS--

    SLC25A15 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC25A15 (ORNT1)

    1 HMDB Compound for SLC25A15    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ornithine(+)-S-Ornithine (see all 9)70-26-8--

    1 DrugBank Compound for SLC25A15    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--14759633 16940241

    2 Novoseek inferred chemical compound relationships for SLC25A15 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ornithine 79.8 18 12948741 (3), 16940241 (2), 10369256 (2), 11712419 (1) (see all 10)
    urea 47.1 3 16940241 (1), 10369256 (1), 19287344 (1)



    SLC25A15 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC25A15 gene: 
    NM_014252.3  

    Unigene Cluster for SLC25A15:

    Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
    Hs.646645  [show with all ESTs]
    Unigene Representative Sequence: NM_014252
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478827 ENST00000338625 ENST00000417731 ENST00000470509
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC25A15 (see all 22):
    hsa-miR-498 hsa-miR-142-5p hsa-miR-125a-5p hsa-miR-29c hsa-miR-29a hsa-miR-138-2* hsa-miR-3680 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A15 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A15
      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A15
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A15

    Additional mRNA sequence: 

    AF177333.1 AK296862.1 AK313602.1 BC002702.2 

    5 DOTS entries:

    DT.95268372  DT.92008085  DT.95237088  DT.95320722  DT.75151949 

    Selected AceView cDNA sequences (see all 127):

    AI380717 AI143096 AI885329 AA397728 BQ062125 W88672 AI339297 CR597405 
    AV685923 AI382550 BE384292 AA683539 BQ430027 AA344884 AI079201 BM911279 
    Z40436 BM560182 AI262596 C20961 AI474445 BG391603 BQ060013 BQ014130 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A15    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                                      
    SP2:                                -                     


    ECgene alternative splicing isoforms for SLC25A15

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC25A15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATGCTTA
    SLC25A15 Expression
    About this image

    SLC25A15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A15 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.646645
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC25A15: 
              Mitochondrial Energy Metabolism in human mouse rat
              Mitochondria in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A15

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

    Orthologs for SLC25A15 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a151 , 5 solute carrier family 25 (mitochondrial carrier ornithine more1, 5 86.49(n)1
    95.02(a)1
      8 (11.26 cM)5
    184081  NM_181325.41  NP_851842.11 
     223755545 
    chicken
    (Gallus gallus)
    Aves SLC25A151 solute carrier family 25 (mitochondrial carrier; ornithine more 75.53(n)
    80.4(a)
      418886  NM_001008442.1  NP_001008442.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    81(a)
    1 → many
    1(132584192-132595501)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc25a151 solute carrier family 25 (mitochondrial carrier; ornithine more 73.91(n)
    77.59(a)
      100038284  NM_001097397.1  NP_001090866.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a15a1 solute carrier family 25 (mitochondrial carrier; ornithine more 68.45(n)
    67.56(a)
      791156  NM_001080638.1  NP_001074107.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16281 , 3 carrier3
    CG16281
    47(a)3
    53.52(n)1
    48.1(a)1
      319901  NM_001272494.11  NP_001259423.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T10F2.21 , 3 Mitochondrial carrier protein3
    T10F2.21
    49(a)3
    53.06(n)1
    51.47(a)1
      III(5235744-5237075)3
    1883871  NM_065693.31  NP_498094.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GGC1(YDL198C)4 Mitochondrial GTP/GDP transporter, essential for mitochondrial more   --   4(104551-103649) 851329  NP_010083.1 


    ENSEMBL Gene Tree for SLC25A15 (if available)
    TreeFam Gene Tree for SLC25A15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A15 gene
    SLC25A22  
    6 SIMAP similar genes for SLC25A15 using alignment to 3 protein entries:     ORNT1_HUMAN (see all proteins):
    SLC25A2    SLC25A45    SLC25A20    SLC25A29    SLC25A48    SLC25A47

    SLC25A15 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for SLC25A15
    PGOHUM00000248511 PGOHUM00000248543 PGOHUM00000239123 PGOHUM00000246199 PGOHUM00000233886


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC25A15 (see all 571)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0589544
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0589542 T I mis40--------
    VAR_0589514
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0589512 G C mis40--------
    VAR_0127644
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0127642 R Q mis40--------
    VAR_0127604
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0127602 E K mis40--------
    VAR_0127574
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0127572 G E mis40--------
    VAR_0127584
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0127582 G R mis40--------
    VAR_0589564
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0589562 L F mis40--------
    VAR_0127624
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0127622 G D mis40--------
    VAR_0589484
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0589482 M R mis40--------
    VAR_0589524
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)4--see VAR_0589522 F L mis40--------

    HapMap Linkage Disequilibrium report for SLC25A15 (41363547 - 41386596 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SLC25A15: --
    Human Gene Mutation Database (HGMD): SLC25A15
    Locus Specific Mutation Databases (LSDB): SLC25A15

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603861   
    OMIM disorders: 238970  
    UniProtKB/Swiss-Prot: ORNT1_HUMAN, Q9Y619
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]: Autosomal
    recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis
    with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by
    hyperammonemia. It causes a functional impairment of the urea cycle. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 14 diseases for SLC25A15:    About MalaCards
    ornithine translocase deficiency    gyrate atrophy    urea cycle disorder    cerebellar ataxia
    spastic paraparesis    intellectual disability    spasticity    ataxia
    mental retardation    crohn's disease    malaria    multiple myeloma
    myeloma    hepatitis

    1 disease from the University of Copenhagen DISEASES database for SLC25A15:
    Ornithine translocase deficiency

    SLC25A15 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SLC25A15 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hhh syndrome 99.5 21 12948741 (2), 16940241 (2), 10805333 (2), 10369256 (2) (see all 14)
    gyrate atrophy 92.1 9 14759633 (2), 11668643 (2), 10805333 (1)
    hyperammonemia 89.4 9 14759633 (2), 11668643 (2), 10805333 (1)

    Genetic Association Database (GAD): SLC25A15
    Human Genome Epidemiology (HuGE) Navigator: SLC25A15 (2 documents)

    Export disorders for SLC25A15 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)
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    PubMed articles for SLC25A15 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with SLC25A15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. (PubMed id 10369256)1, 2, 3, 9 Camacho J.A.... Valle D. (Nat. Genet. 1999)
    2. Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. (PubMed id 14759633)1, 7, 9 Korman S.H....Tsujino S. (J. Neurol. Sci. 2004)
    3. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. (PubMed id 11668643)1, 2, 9 Salvi S.... Santorelli F.M. (Hum. Mutat. 2001)
    4. Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. (PubMed id 10805333)1, 2, 9 Tsujino S....Yamada T. (Ann. Neurol. 2000)
    5. Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. (PubMed id 19242930)1, 2, 9 Tessa A.... Santorelli F.M. (Hum. Mutat. 2009)
    6. A novel mutation, P126R, in a Japanese patient with HHH syndrome. (PubMed id 11814739)1, 2, 9 Miyamoto T.... Tsujino S. (Pediatr. Neurol. 2002)
    7. Clinical and molecular findings in hyperornithinemia-hyperammonemia- homocitrullinuria syndrome. (PubMed id 11552031)1, 2, 9 Salvi S....Dionisi-Vici C. (Neurology 2001)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10166 HGNC: 10985 AceView: SLC25A15 Ensembl:ENSG00000102743 euGenes: HUgn10166
    ECgene: SLC25A15 H-InvDB: SLC25A15

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC25A15 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC25A15[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC25A15 gene:
    Search GeneIP for patents involving SLC25A15

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



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