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PLEKHM1 Gene

protein-coding   GIFtS: 55
GCID: GC17M043540

Pleckstrin Homology Domain Containing, Family M (With RUN...

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
Pleckstrin Homology Domain Containing, Family M (With RUN Domain)
Member 11 2
     OPTB62 5
AP1622 3 5     KIAA03563 5
162 KDa Adapter Protein2 3     B22
PH Domain-Containing Family M Member 12 3     Pleckstrin Homology Domain-Containing Family M Member 12

External Ids:    HGNC: 290171   Entrez Gene: 98422   Ensembl: ENSG000002251907   OMIM: 6114665   UniProtKB: Q9Y4G23   
ORGUL members:         

Export aliases for PLEKHM1 gene to outside databases

Previous GC identifers: GC17M043989 GC17M040869 GC17M043514 GC17M043528


(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 PLEKHM1 Gene:
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular
transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6
(OPTB6). Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Sep 2009)

GeneCards Summary for PLEKHM1 Gene:
PLEKHM1 (pleckstrin homology domain containing, family M (with RUN domain) member 1) is a protein-coding gene. Diseases associated with PLEKHM1 include plekhm1-related autosomal recessive osteopetrosis, and osteopetrosis autosomal recessive 6. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is PLEKHM3.

UniProtKB/Swiss-Prot: PKHM1_HUMAN, Q9Y4G2
Function: Involved in vesicular transport in the osteoclast (By similarity). May have a role in
sialyl-lex-mediated transduction of apoptotic signals

Gene Wiki entry for PLEKHM1 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:
NC_000017.11  NT_010783.16  NT_167251.2  NT_187663.1  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLEKHM1 gene promoter:
         NF-1   NF-1/L   AML1a   YY1   GATA-2   CREB   Max   NRF-2   deltaCREB   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLEKHM1 promoter sequence
   Search Chromatin IP Primers for PLEKHM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHM1


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

PLEKHM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHM1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M043540:  view genomic region     (about GC identifiers)

Start:
43,513,266 bp from pter      End:
43,568,146 bp from pter
Size:
54,881 bases      Orientation:
minus strand

2 alternative locations:
Chr17-,ALT_REF_LOCI_9 43,513,192-43,568,077      Chr17-,NT_167251 128,328-183,214     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for PLEKHM1

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PKHM1_HUMAN, Q9Y4G2 (See protein sequence)
Recommended Name: Pleckstrin homology domain-containing family M member 1  
Size: 1056 amino acids; 117443 Da
Subunit: In colon carcinoma and breast carcinoma cells, it interacts with sialyl-lex-positive protein
Miscellaneous: Sialyl-lex is a carcinoma associated antigen
Sequence caution: Sequence=BAA20813.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAB91652.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6P2R5 Q8TEL9 Q9NPP5 Q9NYA0

Explore the universe of human proteins at neXtProt for PLEKHM1: NX_Q9Y4G2

Explore proteomics data for PLEKHM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLEKHM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055613.1  
    ENSEMBL proteins: 
     ENSP00000389913   ENSP00000462282   ENSP00000462160   ENSP00000467695   ENSP00000466589  
     ENSP00000394344   ENSP00000462065   ENSP00000467356   ENSP00000464766   ENSP00000414352  

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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:
    PLEKH: Pleckstrin homology (PH) domain containing

    5 InterPro protein domains:
     IPR025258 DUF4206
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR004012 Run
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd

    Graphical View of Domain Structure for InterPro Entry Q9Y4G2

    ProtoNet protein and cluster: Q9Y4G2

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: PKHM1_HUMAN, Q9Y4G2
    Similarity: Contains 2 PH domains
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 RUN domain


    PLEKHM1 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: PKHM1_HUMAN, Q9Y4G2
    Function: Involved in vesicular transport in the osteoclast (By similarity). May have a role in
    sialyl-lex-mediated transduction of apoptotic signals

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    PLEKHM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PLEKHM1:
     Synthetic lethal with imatinib 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Plekhm1):
     normal 

    PLEKHM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLEKHM1
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    miRNA
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    miRTarBase miRNAs that target PLEKHM1:
    hsa-mir-17-5p (MIRT051055), hsa-mir-106b-5p (MIRT044379), hsa-mir-3909 (MIRT052883), hsa-mir-183-5p (MIRT047158)

    Block miRNA regulation of human, mouse, rat PLEKHM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLEKHM1 (see all 75):
    hsa-miR-520e hsa-miR-106a hsa-miR-128 hsa-miR-4267 hsa-miR-93 hsa-miR-3148 hsa-miR-509-3-5p hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHM1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PLEKHM1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHM1


    (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
    PKHM1_HUMAN, Q9Y4G2: Cytoplasm (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    PLEKHM1 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLEKHM1
    Interactions:

        Search GeneGlobe Interaction Network for PLEKHM1

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

    Selected Interacting proteins for PLEKHM1 (Q9Y4G22, 3 ENSP000004143524) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BIDP559572, 3MINT-8249553 I2D: score=2 
    MAPK6Q166592, 3MINT-8261659 I2D: score=2 
    EIF2S2P200423I2D: score=5 
    MOB4Q9Y3A33I2D: score=5 
    PAFAH1B3Q151023I2D: score=5 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035556intracellular signal transduction IEA--

    PLEKHM1 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 PLEKHM1 (PKHM1)

    Selected HMDB Compounds for PLEKHM1 (see all 843)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----
    DG(14:0/18:3(6Z,9Z,12Z)/0:0)Diacylglycerol(14:0/18:3n6) (see all 16)----



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PLEKHM1 gene: 
    NM_014798.2  

    Unigene Cluster for PLEKHM1:

    Pleckstrin homology domain containing, family M (with RUN domain) member 1
    Hs.514242  [show with all ESTs]
    Unigene Representative Sequence: NM_014798
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000430334(uc002ija.3 uc010wjm.2 uc002ijb.3) ENST00000580404
    ENST00000579197 ENST00000581448 ENST00000591580 ENST00000579131 ENST00000585506
    ENST00000590991 ENST00000583150 ENST00000446609(uc010wjn.1) ENST00000582035
    ENST00000580205(uc002ijc.3) ENST00000582119 ENST00000584420 ENST00000589780
    ENST00000586562 ENST00000586084 ENST00000581932
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    Selected qRT-PCR Assays for microRNAs that regulate PLEKHM1 (see all 75):
    hsa-miR-520e hsa-miR-106a hsa-miR-128 hsa-miR-4267 hsa-miR-93 hsa-miR-3148 hsa-miR-509-3-5p hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHM1 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLEKHM1
      QuantiTect SYBR Green Assays in human, mouse, rat PLEKHM1
      QuantiFast Probe-based Assays in human, mouse, rat PLEKHM1

    Additional mRNA sequence: 

    AB002354.2 AJ002220.1 AK025379.1 AK074103.1 AK299116.1 AK299467.1 AL389948.1 BC053848.1 
    BC064361.1 NR_027774.1 NR_027782.1 X85792.1 

    15 DOTS entries:

    DT.446059  DT.100793125  DT.120931114  DT.100793127  DT.102844159  DT.120931072  DT.92433611  DT.95130928 
    DT.101984352  DT.120931087  DT.97824915  DT.120931090  DT.120931094  DT.40207567  DT.86854626 

    Selected AceView cDNA sequences (see all 166):

    NM_014798 BC064361 AI264774 AA506602 AB002354 BM697403 AW196309 C05504 
    BU788992 AL700939 BM804876 BM710052 BM668180 W87811 BM855024 BQ685252 
    BI752194 AL389948 BX478176 C04800 AL536599 AK025379 CA391862 BM988014 

    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™, 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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    PLEKHM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCACATTA
    PLEKHM1 Expression
    About this image

    PLEKHM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEKHM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514242

    UniProtKB/Swiss-Prot: PKHM1_HUMAN, Q9Y4G2
    Tissue specificity: Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and
    peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart,
    skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHM1

    (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.

    Orthologs for PLEKHM1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plekhm11 , 5 pleckstrin homology domain containing, family M (with more1, 5 83.98(n)1
    84.3(a)1
      11 (67.09 cM)5
    3530471  NM_183034.11  NP_898855.11 
     1033642755 
    chicken
    (Gallus gallus)
    Aves PLEKHM11 pleckstrin homology domain containing, family M (with more 68.79(n)
    63.96(a)
      419939  NM_001030924.2  NP_001026095.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEKHM16
    pleckstrin homology domain containing, family M (w...
    56(a)
    1 ↔ 1
    6(63291336-63321032)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plekhm11 pleckstrin homology domain containing, family M (with more 55.4(n)
    49.2(a)
      100491541  XM_002933177.2  XP_002933223.1 
    zebrafish
    (Danio rerio)
    Actinopterygii plekhm11 pleckstrin homology domain containing, family M (with more 57.12(n)
    49.34(a)
      564048  NM_001089403.1  NP_001082872.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y56A3A.166
    Protein Y56A3A.16, isoform b (Y56A3A.16) mRNA, com...
    19(a)
    1 ↔ 1
    III(11911111-11914315) WBGene00013235


    ENSEMBL Gene Tree for PLEKHM1 (if available)
    TreeFam Gene Tree for PLEKHM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLEKHM1 gene
    PLEKHM32  DEF82  KIAA02262  KIAA0226L2  
    2 SIMAP similar genes for PLEKHM1 using alignment to 9 protein entries:     PKHM1_HUMAN (see all proteins):
    PLEKHM1P    PLEKHM3

    PLEKHM1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for PLEKHM1
    PGOHUM00000262963 PGOHUM00000237156 PGOHUM00000262990


    (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 PLEKHM1 (see all 1069)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs343638981,2
    C--43515846(+) TGAGCC/TGAGAC 6 -- int10--------
    rs361149971,2
    C--43515885(+) AGAGCA/GAGACT 6 -- int10--------
    rs353545121,2
    C--43515927(+) ACTTAC/TTTTAT 6 -- int13Minor allele frequency- T:0.08NA WA 240
    rs1124319611,2
    C,F--43515985(+) TGGCAC/AGATCT 6 -- int12Minor allele frequency- A:0.50NA 4
    rs1127550591,2
    C--43516067(+) ACAGGC/TGCCCA 6 -- int11Minor allele frequency- T:0.50CSA 2
    rs124499601,2
    C,H--43526633(+) cccatC/Acaccc 6 -- int11Minor allele frequency- A:0.00NA 2
    rs1480739971,2
    --43526720(+) GCCATC/GTGCCC 3 -- int10--------
    rs1418393421,2
    --43526851(+) ACCAAA/GCCATC 3 -- int10--------
    rs1125384591,2
    C,F--43527323(+) ACCCAC/TCCACC 6 -- int11Minor allele frequency- T:0.11NA 120
    rs20776061,2
    C,F,H--43529293(+) TGCAGG/ATGTTT 6 -- int16Minor allele frequency- A:0.05NS EA NA 420

    HapMap Linkage Disequilibrium report for PLEKHM1 (43513266 - 43568146 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLEKHM1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715974CNV Deletion23290073
    nsv509659CNV Insertion20534489
    dgv123e55CNV Loss17911159
    dgv124e55CNV Loss17911159
    nsv908304CNV Loss21882294
    nsv9562CNV Gain18304495
    nsv428342CNV Gain18775914
    esv627CNV CNV17122850
    dgv967e1CNV Complex17122850
    dgv965e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PLEKHM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLEKHM1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLEKHM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 611466   
    OMIM disorders: 611497  
    UniProtKB/Swiss-Prot: PKHM1_HUMAN, Q9Y4G2
  • Osteopetrosis, autosomal recessive 6 (OPTB6) [MIM:611497]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with
    macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and
    hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for PLEKHM1:    
    About MalaCards
    plekhm1-related autosomal recessive osteopetrosis    osteopetrosis autosomal recessive 6    osteopetrosis    parkinson's disease
    huntington's disease    ovarian cancer    endotheliitis    multiple myeloma
    myeloma    prostatitis


    PLEKHM1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PLEKHM1

    Export disorders for PLEKHM1 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 PLEKHM1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with PLEKHM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway. (PubMed id 12820725)1, 2, 3, 9 Hartel-Schenk S....Hanski C. (Glycoconj. J. 2001)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1997)
    3. Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. (PubMed id 20070850)1, 4 Edwards T.L....Martin E.R. (Ann. Hum. Genet. 2010)
    4. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. (PubMed id 17404618)1, 2 van Wesenbeeck L....Van Hul W. (J. Clin. Invest. 2007)
    5. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. (PubMed id 23544013)1 Couch F.J....Antoniou A.C. (PLoS Genet. 2013)
    6. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. Rubicon and PLEKHM1 negatively regulate the endocytic/autophagic pathway via a novel Rab7-binding domain. (PubMed id 20943950)1 Tabata K....Yoshimori T. (Mol. Biol. Cell 2010)
    10. A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. (PubMed id 17997709)1 Del Fattore A....Teti A. (J. Bone Miner. Res. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 9842 HGNC: 29017 AceView: PLEKHM1 Ensembl:ENSG00000225190 euGenes: HUgn9842
    ECgene: PLEKHM1 H-InvDB: PLEKHM1

    (According to HUGE)
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    HUGE: KIAA0356

    (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 PLEKHM1 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 PLEKHM1 gene:
    Search GeneIP for patents involving PLEKHM1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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