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

MPV17L Gene

protein-coding   GIFtS: 47
GCID: GC16P015398

MPV17 Mitochondrial Membrane Protein-Like

  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
MPV17 Mitochondrial Membrane Protein-Like1 2     MPV17L12
M-LPH2 3     Mpv17-Like Protein2
M-LP Homolog2 3     Mpv17-Like Protein Type 12
MLPH12     Mpv17-Like Protein Type 22
MLPH22     

External Ids:    HGNC: 268271   Entrez Gene: 2550272   Ensembl: ENSG000001569687   UniProtKB: Q2QL343   

Export aliases for MPV17L gene to outside databases

Previous GC identifer: GC16P014882


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

GeneCards Summary for MPV17L Gene: 
MPV17L (MPV17 mitochondrial membrane protein-like) is a protein-coding gene. Diseases associated with MPV17L include ureteral obstruction, and kidney disease. GO annotations related to this gene include molecular_function and receptor binding. An important paralog of this gene is ENSG00000261130.

UniProtKB/Swiss-Prot: MP17L_HUMAN, Q2QL34
Function: Isoform 1 participates in reactive oxygen species metablism by up- or down-regulation of the genes of
antioxidant enzymes




(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_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MPV17L gene promoter:
         E2F-4   E2F-3a   TBP   Pax-5   E2F-2   MEF-2A   E2F   E2F-1   TFIID   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPV17L promoter sequence
   Search SABiosciences Chromatin IP Primers for MPV17L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPV17L


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

Entrez Gene cytogenetic band: 16p13.11   Ensembl cytogenetic band:  16p13.11   HGNC cytogenetic band: 16p13.11

MPV17L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPV17L gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P015398:  view genomic region     (about GC identifiers)

Start:
15,489,611 bp from pter      End:
15,503,543 bp from pter
Size:
13,933 bases      Orientation:
plus 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: MP17L_HUMAN, Q2QL34 (See protein sequence)
Recommended Name: Mpv17-like protein  
Size: 196 amino acids; 22116 Da
Subcellular location: Isoform 1: Peroxisome membrane; Multi-pass membrane protein
Secondary accessions: B4DDY1 Q6P7T6 Q8N8E9
Alternative splicing: 2 isoforms:  Q2QL34-1   Q2QL34-2   (Ref.2 (BAC04895) sequence is in conflict in position: 106:T->I)

Explore the universe of human proteins at neXtProt for MPV17L: NX_Q2QL34

Explore proteomics data for MPV17L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2QL34

  • MPV17L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MPV17L Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001121895.1  NP_776164.2  

    ENSEMBL proteins: 
     ENSP00000287594   ENSP00000379669   ENSP00000457012  

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    Cloud-Clone Corp. Proteins for MPV17L 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA16631601
    GO:0005778peroxisomal membrane IEA--
    GO:0016021integral to membrane IEA--

    MPV17L for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007248 Mpv17_PMP22

    Graphical View of Domain Structure for InterPro Entry Q2QL34

    ProtoNet protein and cluster: Q2QL34

    1 Blocks protein domain: IPB007248 Mpv17/PMP22

    UniProtKB/Swiss-Prot: MP17L_HUMAN, Q2QL34
    Similarity: Belongs to the peroxisomal membrane protein PXMP2/4 family


    MPV17L 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: MP17L_HUMAN, Q2QL34
    Function: Isoform 1 participates in reactive oxygen species metablism by up- or down-regulation of the genes of
    antioxidant enzymes

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005102receptor binding IPI--
         
    MPV17L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MPV17L:
     Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MPV17L 
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    SwitchGear 3'UTR luciferase reporter plasmidMPV17L 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MPV17L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for MPV17L):
        Peroxisome


    MPV17L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MPV17L

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

    1 Interacting protein for MPV17L (ENSP000003796694) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010730negative regulation of hydrogen peroxide biosynthetic process IDA--
    GO:0072593reactive oxygen species metabolic process IDA16631601
    GO:1901029negative regulation of mitochondrial outer membrane permeabilization IDA--

    MPV17L for ontologies           About GeneDecksing



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

    Browse Tocris compounds for MPV17L (MP17L)

    Search CenterWatch for drugs/clinical trials and news about MPV17L / MP17L

    (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 MPV17L gene (2 alternative transcripts): 
    NM_001128423.1  NM_173803.3  

    Unigene Cluster for MPV17L:

    MPV17 mitochondrial membrane protein-like
    Hs.720673  [show with all ESTs]
    Unigene Representative Sequence: NM_001128423
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287594(uc002ddn.2 uc002ddm.2) ENST00000396385 ENST00000564148

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate MPV17L:
    hsa-miR-4324 hsa-miR-3662 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidMPV17L 3' UTR sequence
    Inhib. RNA
    Products:
         
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                         Customized lentivirus expression plasmids for stable overexpression of MPV17L 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPV17L
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    Additional mRNA sequence: 

    AK096918.1 AK293380.1 BC061514.1 DQ004255.1 DQ004256.1 

    3 DOTS entries:

    DT.97763412  DT.91707461  DT.91720316 

    10 AceView cDNA sequences:

    AK096918 NM_173803 BX497555 BG742770 BU902267 BC061514 AI798644 AW938999 
    BM838624 BF813929 

    GeneLoc Exon Structure


    (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

    MPV17L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGGGCTGGT
    MPV17L Expression
    About this image


    See MPV17L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPV17L

    SOURCE GeneReport for Unigene cluster: Hs.720673

    UniProtKB/Swiss-Prot: MP17L_HUMAN, Q2QL34
    Tissue specificity: Isoform 1 is detected in the kidney (at protein level). Isoform 1 and isoform 2 are expressed
    in the kidney, heart, liver, lung, pancreas and skeletal muscle

        SABiosciences Custom PCR Arrays for MPV17L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17L

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

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

    Orthologs for MPV17L gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpv17l1 , 5 Mpv17 transgene, kidney disease mutant-like1, 5 79.04(n)1
    78.35(a)1
      16 (9.64 cM)5
    937341  NM_033564.21  NP_291042.21 
     139031615 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    38(a)
    possible ortholog
    GL343279.1(773335-778735)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5631781 mpv17-like protein-like 56.77(n)
    52.12(a)
      563178  XM_686547.5  XP_691639.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG123551 CG12355 44.02(n)
    35.9(a)
      2768954  NM_001104140.2  NP_001097610.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SYM16
    Protein required for ethanol metabolism; induced b...
    21(a)
    1 → many
    XII(641464-642057)


    ENSEMBL Gene Tree for MPV17L (if available)
    TreeFam Gene Tree for MPV17L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MPV17L gene
    ENSG000002611302  
    2 SIMAP similar genes for MPV17L using alignment to 2 protein entries:     MP17L_HUMAN (see all proteins):
    SULT1A1    MPV17

    MPV17L for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MPV17L
    PGOHUM00000249043 PGOHUM00000249046


    (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

    10/332 SNPs in MPV17L are shown (see all 332)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1925054251,2
    --15487616(+) GATCAC/TATATG 2 -- us2k10--------
    rs713913411,2
    --15487741(-) TCTATC/TATTTG 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs2005606801,2
    C--15487803(+) GGATC-/TTTTTT 2 -- us2k10--------
    rs2229151,2
    C--15487812(+) TTTTTA/TAAATA 2 -- us2k1 tfbs3 trp31Minor allele frequency- T:0.00NA 2
    rs1848664071,2
    --15487929(+) TTCTCC/TTGCCT 2 -- us2k10--------
    rs1396436401,2
    --15487942(+) GCCTCC/TGGAGT 2 -- us2k10--------
    rs1893938441,2
    --15487950(+) AGTAGA/CTGGGA 2 -- us2k10--------
    rs1924332861,2
    --15487951(+) GTAGCG/TGGGAT 2 -- us2k10--------
    rs2229161,2
    C--15488352(+) TTTGCT/ATAGCA 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs2229171,2
    C--15488406(+) gccagG/Agtgga 2 -- us2k1 tfbs32Minor allele frequency- A:0.25NA 4

    HapMap Linkage Disequilibrium report for MPV17L (15489611 - 15503543 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for MPV17L:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664596CNV Deletion23128226
    nsv435664CNV Deletion17901297
    esv2714015CNV Deletion23290073
    nsv1741CNV Insertion18451855
    nsv833145CNV Gain17160897
    nsv457428CNV Gain19166990
    nsv905385CNV Gain21882294
    nsv833146CNV Gain17160897
    dgv2610n71CNV Gain21882294
    nsv905386CNV Gain21882294

    SABiosciences Cancer Mutation 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for MPV17L:    About MalaCards
    ureteral obstruction    kidney disease    gastric cancer


    MPV17L for disorders           About GeneDecksing


    Export disorders for MPV17L 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 MPV17L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MPV17L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes. (PubMed id 16631601)1, 2, 3 Iida R.... Kishi K. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    5. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 255027 HGNC: 26827 AceView: FLJ39599 Ensembl:ENSG00000156968 euGenes: HUgn255027
    ECgene: MPV17L Kegg: 255027 H-InvDB: MPV17L

    (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 MPV17L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MPV17L gene:
    Search GeneIP for patents involving MPV17L

    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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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