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SLC25A17 Gene

protein-coding   GIFtS: 61
GCID: GC22M041165

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

(Previous names: solute carrier family 25 (mitochondrial carrier; peroxisomal...)
  See SLC25A17-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; Peroxisomal Membrane
Protein, 34kDa), Member 171 2
     Solute Carrier Family 25 (Mitochondrial Carrier; Peroxisomal Membrane
Protein, 34kD), Member 171
PMP342 3 5     Peroxisomal Membrane Protein PMP342
Solute Carrier Family 25 Member 172 3     34 KDa Peroxisomal Membrane Protein3
Peroxisomal Membrane Protein (34kD)1     

External Ids:    HGNC: 109871   Entrez Gene: 104782   Ensembl: ENSG000001003727   OMIM: 6067955   UniProtKB: O438083   

Export aliases for SLC25A17 gene to outside databases

Previous GC identifers: GC22M037780 GC22M039408 GC22M039409 GC22M039490 GC22M024127


(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 SLC25A17 Gene:
This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It
is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for SLC25A17 Gene:
SLC25A17 (solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17) is a protein-coding gene. Diseases associated with SLC25A17 include adrenomyeloneuropathy, and peroxisomal disease. GO annotations related to this gene include ADP transmembrane transporter activity and chaperone binding. An important paralog of this gene is SLC25A32.

UniProtKB/Swiss-Prot: PM34_HUMAN, O43808
Function: Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD),
flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extend for nicotinamide
adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze
the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange
mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro

Gene Wiki entry for SLC25A17 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A17 gene promoter:
         NCX/Ncx   Nkx2-5   NF-AT   Evi-1   NF-AT4   NF-AT2   IRF-7A   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC25A17 promoter sequence
   Search Chromatin IP Primers for SLC25A17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A17


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

SLC25A17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A17 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M041165:  view genomic region     (about GC identifiers)

Start:
41,165,634 bp from pter      End:
41,215,403 bp from pter
Size:
49,770 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PM34_HUMAN, O43808 (See protein sequence)
Recommended Name: Peroxisomal membrane protein PMP34  
Size: 307 amino acids; 34567 Da
Subunit: Interacts (via N- and C-terminus peroxisomal targeting regions) with PEX19; the interaction occurs with
the newly synthesized SLC25A17 in the cytosol
Caution: Was first identified as a peroxisomal ATP transporter (PubMed:12445829). However, later experiments
showed that it acts as a peroxisomal transporter for multiple cofactors (PubMed:22185573)
Secondary accessions: A8KA59 Q5TFL0 Q9UGW8 Q9UGY7

Explore the universe of human proteins at neXtProt for SLC25A17: NX_O43808

Explore proteomics data for SLC25A17 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys268
  • Modification sites at PhosphoSitePlus

  • See SLC25A17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001269655.1  NP_001269656.1  NP_006349.1  

    ENSEMBL proteins: 
     ENSP00000263255   ENSP00000390722   ENSP00000385303   ENSP00000390502   ENSP00000394539  
     ENSP00000407096   ENSP00000416618   ENSP00000387478   ENSP00000414908   ENSP00000400053  
     ENSP00000388966   ENSP00000410565   ENSP00000409781   ENSP00000404200   ENSP00000446471  
     ENSP00000438355  
    Reactome Protein details: O43808

    SLC25A17 Human Recombinant Protein Products:

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    SLC25A17 Assay Products:

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    (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: Peroxisomal membrane protein
    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 O43808

    ProtoNet protein and cluster: O43808

    UniProtKB/Swiss-Prot: PM34_HUMAN, O43808
    Domain: The N- and C-terminal portions are exposed to the cytoplasm. Lacks a typical peroxisomal sorting signal. A
    region between helical transmembrane domains (TM) 4 and 5 and TM1-TM3 or TM4-TM6 are necessary for the
    peroxisome-targeting activity
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    Find genes that share domains with SLC25A17           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PM34_HUMAN, O43808
    Function: Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD),
    flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extend for nicotinamide
    adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze
    the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange
    mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro

         Genatlas biochemistry entry for SLC25A17:
    solute carrier protein family 25,member A17,mitochondrial carrier,peroxisomal protein,34kDa,widely expressed

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005347ATP transmembrane transporter activity IGI12445829
    GO:0005515protein binding IPI10704444
    GO:0015217ADP transmembrane transporter activity IDA--
    GO:0015228coenzyme A transmembrane transporter activity IDA--
         
    Find genes that share ontologies with SLC25A17           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A17:
     Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SLC25A17

    miRNA
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    miRTarBase miRNAs that target SLC25A17:
    hsa-mir-196a-5p (MIRT048223)

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    hsa-miR-579 hsa-miR-3065-5p hsa-miR-3150b-3p hsa-miR-3121-3p hsa-miR-3153 hsa-miR-628-5p hsa-miR-2113 hsa-miR-490-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A17 3' UTR sequence
    Inhib. RNA
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    (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
    PM34_HUMAN, O43808: Cytoplasm. Peroxisome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    cytosol2
    endoplasmic reticulum2
    mitochondrion2
    plasma membrane2
    extracellular1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005743mitochondrial inner membrane ----
    GO:0005777peroxisome IDA9874197
    GO:0005778peroxisomal membrane TAS--
    GO:0005779integral component of peroxisomal membrane IDA11121399

    Find genes that share ontologies with SLC25A17           About GenesLikeMe


    (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 SLC25A17 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    2Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Alpha-oxidation of phytanate0.00
    3Peroxisome
    Peroxisome


    Find genes that share SuperPaths with SLC25A17           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SLC25A17
        Alpha-oxidation of phytanate


    1 Kegg Pathway  (Kegg details for SLC25A17):
        Peroxisome

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A17: 
              Mitochondria in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC25A17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for SLC25A17 (O438081, 3 ENSP000003907224) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408551, 3, ENSP000003570514EBI-594912,EBI-594747 I2D: score=4 STRING: ENSP00000357051
    SLC27A2ENSP000002678424STRING: ENSP00000267842
    TADA3ENSP000003076844STRING: ENSP00000307684
    TAF12ENSP000002639744STRING: ENSP00000263974
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561fatty acid alpha-oxidation TAS--
    GO:0006635fatty acid beta-oxidation IGI12445829
    GO:0006810transport ----
    GO:0006839mitochondrial transport ----
    GO:0015866ADP transport IDA--

    Find genes that share ontologies with SLC25A17           About GenesLikeMe



    (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 SLC25A17 (PM34)

    3 Novoseek inferred chemical compound relationships for SLC25A17 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 69.5 4 10357777 (1), 1468458 (1), 12475388 (1)
    atp 20 5 9425230 (1), 8577752 (1), 7666063 (1), 11248239 (1) (see all 5)
    gold 0 1 1468458 (1)



    Find genes that share compounds with SLC25A17           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC25A17 gene (3 alternative transcripts): 
    NM_001282726.1  NM_001282727.1  NM_006358.3  

    Unigene Cluster for SLC25A17:

    Solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17
    Hs.474938  [show with all ESTs]
    Unigene Representative Sequence: BC024741
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263255 ENST00000491545(uc010gyg.3) ENST00000435456(uc003azc.3 uc011aou.2 uc003azd.3 uc011aov.2)
    ENST00000402844 ENST00000447566 ENST00000420970 ENST00000430221 ENST00000427084
    ENST00000458600 ENST00000443810 ENST00000412879 ENST00000426396 ENST00000434193
    ENST00000478550 ENST00000449676 ENST00000434185 ENST00000542412 ENST00000544408

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    Additional mRNA sequence: 

    AK094062.1 AK292924.1 AK298215.1 AK300553.1 BC005957.1 BC012998.2 BC024741.1 BC039064.1 
    BX647991.1 CR456577.1 Y12860.1 

    10 DOTS entries:

    DT.113298  DT.101984188  DT.40131540  DT.100799102  DT.101984187  DT.100808014  DT.120652997  DT.120653029 
    DT.120653039  DT.91764232 

    Selected AceView cDNA sequences (see all 217):

    BC024741 AI288460 CD622459 AW182439 BM923747 BQ434459 CR607643 BU171732 
    AK094062 BQ016143 BX417089 BU627684 BM905270 BM989309 CF139045 BI519970 
    CR612075 CF140461 CR456577 BC012998 BM703748 BC039064 BX647991 BM821257 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A17 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b · 11c
    SP1:                                -     -                       -     -                                                               
    SP2:                                      -                       -     -                                                               
    SP3:                                -     -           -     -     -     -                                                               
    SP4:                                            -     -           -     -                                                               
    SP5:                          -     -     -     -     -     -     -     -                                                               


    ECgene alternative splicing isoforms for SLC25A17

    (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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    SLC25A17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTTATTTT
    SLC25A17 Expression
    About this image


    SLC25A17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
    SLC25A17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474938

    UniProtKB/Swiss-Prot: PM34_HUMAN, O43808
    Tissue specificity: Ubiquitous. Expressed in liver

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A17: 
              Mitochondria in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A17

    (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 eukaryotes.

    Orthologs for SLC25A17 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a171 , 5 solute carrier family 25 (mitochondrial carrier, peroxisomal more1, 5 88.17(n)1
    95.44(a)1
      15 (38.05 cM)5
    205241  NM_011399.31  NP_035529.11 
     813189215 
    chicken
    (Gallus gallus)
    Aves SLC25A171 solute carrier family 25 (mitochondrial carrier; peroxisomal more 80.78(n)
    89.58(a)
      418004  XM_416242.4  XP_416242.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A176
    solute carrier family 25 (mitochondrial carrier; p...
    87(a)
    1 ↔ 1
    5(25955231-25971244)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3981572 peroxisomal membrane protein PMP34 75.08(n)    AJ289240.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD583726.12   -- 76.7(n)    CD583726.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG322501 CG32250 54.58(n)
    51.76(a)
      38532  NM_168081.3  NP_728982.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ANT1(YPR128C)4 Peroxisomal adenine nucleotide transporter; involved more   --   16(792204-791218) 856246  NP_015453.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05089001 Os09g0508900 47.79(n)
    38.11(a)
      4347528  NM_001070159.1  NP_001063624.1 


    ENSEMBL Gene Tree for SLC25A17 (if available)
    TreeFam Gene Tree for SLC25A17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A17 gene
    SLC25A322  
    5 SIMAP similar genes for SLC25A17 using alignment to 13 protein entries:     PM34_HUMAN (see all proteins):
    SLC25A42    SLC25A32    SLC25A1    SLC25A16    SLC25A38

    Find genes that share paralogs with SLC25A17           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for SLC25A17 (see all 968)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs558090101,2
    C--25127246(+) TTTTT-/T/TT  
            
    CTTGA
    1 -- int11NA 2
    rs1417612101,2
    --41165137(+) TCAAGG/TTCTGC 1 -- ds50010--------
    rs1900937471,2
    --41165403(+) ATTTCA/TTTATT 1 -- ds50010--------
    rs1462603091,2
    --41165449(+) AAACCC/TGCCAT 1 -- ds50010--------
    rs60021191,2
    C--41165460(+) TTTGTC/TATAGG 1 -- ds50010--------
    rs1416276541,2
    --41165557(+) CCACTC/GCTGGC 1 -- ds50010--------
    rs1825594281,2
    --41165565(+) GGCCGC/TATAAT 1 -- ds50010--------
    rs412812811,2
    C--41165678(+) TTTGAG/TAAAAA 1 -- ut310--------
    rs1858147581,2
    --41165741(+) GGGTCC/TTATGG 1 -- ut310--------
    rs1911134471,2
    --41165778(+) ATCACA/CTGGGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC25A17 (41165634 - 41215403 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC25A17:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4978n71CNV Loss21882294
    nsv915112CNV Loss21882294
    nsv915115CNV Gain21882294
    nsv834206CNV Gain17160897
    nsv834205CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A17
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A17

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606795    OMIM disorders: --

    4 diseases for SLC25A17:    
    About MalaCards
    adrenomyeloneuropathy    peroxisomal disease    infantile refsum disease    rhizomelic chondrodysplasia punctata

    3 diseases from the University of Copenhagen DISEASES database for SLC25A17:
    Adrenoleukodystrophy     Zellweger syndrome     Infantile refsum disease

    Find genes that share disorders with SLC25A17           About GenesLikeMe

    7 Novoseek inferred disease relationships for SLC25A17 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zellweger syndrome 92.4 4 10871277 (1), 10942428 (1), 1511694 (1), 8507691 (1)
    adrenoleukodystrophy 92.2 12 14654352 (1), 8577752 (1), 8876235 (1), 11248239 (1) (see all 11)
    peroxisomal disorders 88.9 2 8521871 (1), 11565790 (1)
    demyelinating diseases 38.8 1 8577752 (1)
    glomerulosclerosis 14.3 2 16631601 (1), 12471025 (1)
    tumors 0.753 1 11056045 (1)
    cystic fibrosis 0 1 11056045 (1)


    Export disorders for SLC25A17 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 SLC25A17 gene, integrated from 10 sources (see all 138):
    (articles sorted by number of sources associating them with SLC25A17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human PMP34, a protein closely related to the peroxisomal integral membrane protein PMP47 of Candida boidinii. (PubMed id 9874197)1, 2, 3, 9 Wylin T....Van Veldhoven P.P. (Eur. J. Biochem. 1998)
    2. Topogenesis of peroxisomal membrane protein requires a short, positively charged intervening-loop sequence and flanking hydrophobic segments: study using human membrane protein PMP34. (PubMed id 11121399)1, 2, 9 Honsho M. and Fujiki Y. (J. Biol. Chem. 2001)
    3. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PubMed id 10704444)1, 2, 9 Sacksteder K.A.... Gould S.J. (J. Cell Biol. 2000)
    4. Identification of human PMP34 as a peroxisomal ATP transporter. (PubMed id 12445829)1, 2, 9 Visser W.F.... Wanders R.J. (Biochem. Biophys. Res. Commun. 2002)
    5. Multiple distinct targeting signals in integral peroxisomal membrane proteins. (PubMed id 11402059)1, 2, 9 Jones J.M.... Gould S.J. (J. Cell Biol. 2001)
    6. The human gene SLC25A17 encodes a peroxisomal transporter of coenzyme A, FAD and NAD+. (PubMed id 22185573)1, 2 Agrimi G.... Palmieri F. (Biochem. J. 2012)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    9. PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins. (PubMed id 14709540)1, 2 Jones J.M.... Gould S.J. (J. Cell Biol. 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
    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)
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    Entrez Gene: 10478 HGNC: 10987 AceView: SLC25A17 Ensembl:ENSG00000100372 euGenes: HUgn10478
    ECgene: SLC25A17 Kegg: 10478 H-InvDB: SLC25A17

    (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 SLC25A17 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SLC25A17 gene:
    Search GeneIP for patents involving SLC25A17

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



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