Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PLEKHF1 Gene

protein-coding   GIFtS: 48
GCID: GC19P030155

Pleckstrin Homology Domain Containing, Family F (With FYVE...

  Try our

disease database 

(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

TryGeneCards Plus

Aliases
Pleckstrin Homology Domain Containing, Family F (With FYVE Domain)
Member 11 2
     PHAFIN12 5
LAPF2 3 5     Apoptosis-Inducing Protein D2
Lysosome-Associated Apoptosis-Inducing Protein Containing PH And FYVE
Domains2 3
     Phafin 12
Zinc Finger FYVE Domain-Containing Protein 152 3     phafin-12
APPD2 3     Pleckstrin Homology Domain-Containing Family F Member 12
ZFYVE152 3     Phafin-13
PH And FYVE Domain-Containing Protein 12 3     Apoptosis-Inducing Protein3
PH Domain-Containing Family F Member 12 3     

External Ids:    HGNC: 207641   Entrez Gene: 791562   Ensembl: ENSG000001662897   OMIM: 6152005   UniProtKB: Q96S993   

Export aliases for PLEKHF1 gene to outside databases

Previous GC identifers: GC19P030604 GC19P034832 GC19P034847 GC19P026668


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

TryGeneCards Plus

GeneCards Summary for PLEKHF1 Gene:
PLEKHF1 (pleckstrin homology domain containing, family F (with FYVE domain) member 1) is a protein-coding gene. GO annotations related to this gene include phosphatidylinositol-5-phosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is PLEKHF2.

UniProtKB/Swiss-Prot: PKHF1_HUMAN, Q96S99
Function: May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome
initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the
cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP)
resulting in the release of PDCD8




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLEKHF1 gene promoter:
         c-Fos   ATF-2   MyoD   HSF1 (long)   Nkx5-1   Evi-1   PPAR-alpha   CRE-BP1   HSF1short   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PLEKHF1 promoter sequence
   Search Chromatin IP Primers for PLEKHF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHF1


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

Entrez Gene cytogenetic band: 19q12   Ensembl cytogenetic band:  19q12   HGNC cytogenetic band: 19q11

PLEKHF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHF1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P030155:  view genomic region     (about GC identifiers)

Start:
30,155,963 bp from pter      End:
30,166,384 bp from pter
Size:
10,422 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, 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PKHF1_HUMAN, Q96S99 (See protein sequence)
Recommended Name: Pleckstrin homology domain-containing family F member 1  
Size: 279 amino acids; 31195 Da
Secondary accessions: Q96K11 Q9BUB9

Explore the universe of human proteins at neXtProt for PLEKHF1: NX_Q96S99

Explore proteomics data for PLEKHF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLEKHF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_077286.3  
    ENSEMBL proteins: 
     ENSP00000389787   ENSP00000466292   ENSP00000464925   ENSP00000466003  

    PLEKHF1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PLEKHF1
    OriGene Protein Over-expression Lysate for PLEKHF1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PLEKHF1
    GenScript Custom Purified and Recombinant Proteins Services for PLEKHF1
    Novus Biologicals PLEKHF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PLEKHF1

     
    Search eBioscience for Proteins for PLEKHF1 

     
    antibodies-online proteins for PLEKHF1 

     
    antibodies-online peptides for PLEKHF1

    PLEKHF1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PLEKHF1
    Novus Biologicals PLEKHF1 Antibodies
    Abcam antibodies for PLEKHF1
    Cloud-Clone Corp. Antibodies for PLEKHF1
    Search ThermoFisher Antibodies for PLEKHF1
    antibodies-online antibodies for PLEKHF1 (29 products) 

    PLEKHF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PLEKHF1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PLEKHF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PLEKHF1
    Cloud-Clone Corp. CLIAs for PLEKHF1
    Search eBioscience for ELISAs for PLEKHF1 
    antibodies-online kits for PLEKHF1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    ZFYVE: Zinc fingers, FYVE domain containing
    PLEKH: Pleckstrin homology (PH) domain containing

    Selected InterPro protein domains (see all 6):
     IPR001849 Pleckstrin_homology
     IPR000306 Znf_FYVE
     IPR011993 PH_like_dom
     IPR013083 Znf_RING/FYVE/PHD
     IPR017455 Znf_FYVE-rel

    Graphical View of Domain Structure for InterPro Entry Q96S99

    ProtoNet protein and cluster: Q96S99

    2 Blocks protein domains:
    IPB000306 Zn-finger
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: PKHF1_HUMAN, Q96S99
    Domain: PH and FYVE-type zinc finger domains are required for lysosomal location
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 PH domain


    Find genes that share domains with PLEKHF1           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKHF1_HUMAN, Q96S99
    Function: May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome
    initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the
    cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP)
    resulting in the release of PDCD8

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010314phosphatidylinositol-5-phosphate binding IDA--
    GO:0032266phosphatidylinositol-3-phosphate binding IDA--
    GO:0046872metal ion binding IEA--
    GO:0070273phosphatidylinositol-4-phosphate binding IDA--
         
    Find genes that share ontologies with PLEKHF1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PLEKHF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PLEKHF1:
    hsa-mir-331-3p (MIRT043496), hsa-mir-335-5p (MIRT018786)

    Block miRNA regulation of human, mouse, rat PLEKHF1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate PLEKHF1:
    hsa-miR-124 hsa-miR-185 hsa-miR-4306 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PLEKHF1
    Predesigned siRNA for gene silencing in human, mouse, rat PLEKHF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PLEKHF1

    Clone
    Products:
         
    OriGene clones in human, mouse for PLEKHF1 (see all 6)
    OriGene ORF clones in mouse, rat for PLEKHF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLEKHF1 (NM_024310)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PLEKHF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PLEKHF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PKHF1_HUMAN, Q96S99: Nucleus. Cytoplasm, perinuclear region. Lysosome. Note=Translocates to lysosome during
    apoptosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    nucleus5
    vacuole5
    cytosol3
    endosome3
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome IDA--
    GO:0005765lysosomal membrane IC--
    GO:0005768colocalizes with endosome IDA--

    Find genes that share ontologies with PLEKHF1           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).
    About This Section

    TryGeneCards Plus



        Pathway & Disease-focused RT2 Profiler PCR Array including PLEKHF1: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PLEKHF1

    3 Interacting proteins for PLEKHF1 (Q96S992, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1279Q96EK52, 3MINT-67493 I2D: score=5 
    TNNT1P138052, 3MINT-66722 I2D: score=5 
    PLSCR1O151623I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0007032endosome organization IMP--
    GO:0010508positive regulation of autophagy IDA--
    GO:0016050vesicle organization IMP--
    GO:0072659protein localization to plasma membrane IMP--

    Find genes that share ontologies with PLEKHF1           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)
    About This Section

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

    Browse Tocris compounds for PLEKHF1 (PKHF1)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PLEKHF1 gene: 
    NM_024310.4  

    Unigene Cluster for PLEKHF1:

    Pleckstrin homology domain containing, family F (with FYVE domain) member 1
    Hs.466383  [show with all ESTs]
    Unigene Representative Sequence: AY037145
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000436066(uc002nsh.4 uc002nsi.4) ENST00000592810 ENST00000588833
    ENST00000586888
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PLEKHF1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate PLEKHF1:
    hsa-miR-124 hsa-miR-185 hsa-miR-4306 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PLEKHF1
    Predesigned siRNA for gene silencing in human, mouse, rat PLEKHF1
    Clone
    Products:
         
    OriGene clones in human, mouse for PLEKHF1 (see all 6)
    OriGene ORF clones in mouse, rat for PLEKHF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLEKHF1 (NM_024310)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHF1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PLEKHF1
    OriGene qSTAR qPCR primer pairs in human, mouse for PLEKHF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLEKHF1
      QuantiTect SYBR Green Assays in human, mouse, rat PLEKHF1
      QuantiFast Probe-based Assays in human, mouse, rat PLEKHF1

    Additional mRNA sequence: 

    AF434818.1 AK027758.1 AK225814.1 AK301616.1 AY037145.2 BC002744.2 BC018876.2 

    3 DOTS entries:

    DT.442448  DT.95167597  DT.100717145 

    Selected AceView cDNA sequences (see all 108):

    CR626406 BC018876 BE382380 CB117890 AA410632 CR591930 AW057511 BX345157 
    BU607821 BM014501 BI752095 CR602222 CB160411 BM672531 F09029 CR626339 
    CR615714 BG231812 AI417534 AA402715 BX096716 BE394251 BC002744 AA470879 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHF1    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d
    SP1:                    -     -     -                           
    SP2:                                -                           
    SP3:                          -     -                           
    SP4:                                                            


    ECgene alternative splicing isoforms for PLEKHF1

    (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)
    About This Section

    TryGeneCards Plus

    PLEKHF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PLEKHF1 Expression
    About this image


    PLEKHF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neurons
             AII Amacrine Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
     
     Eye (Sensory Organs)
             AII Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Ovary (Reproductive System)
    PLEKHF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEKHF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.466383

    UniProtKB/Swiss-Prot: PKHF1_HUMAN, Q96S99
    Tissue specificity: Highly expressed in heart and skeletal muscle. Weakly expressed in brain, thymus, spleen,
    kidney, liver, small intestine, placenta and lung

        Pathway & Disease-focused RT2 Profiler PCR Array including PLEKHF1: 
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PLEKHF1
    OriGene qSTAR qPCR primer pairs in human, mouse for PLEKHF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLEKHF1
    QuantiTect SYBR Green Assays in human, mouse, rat PLEKHF1
    QuantiFast Probe-based Assays in human, mouse, rat PLEKHF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHF1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for PLEKHF1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plekhf11 , 5 pleckstrin homology domain containing, family F (with more1, 5 83.87(n)1
    89.96(a)1
      7 (25.36 cM)5
    722871  NM_024413.21  NP_077724.21 
     382206545 
    chicken
    (Gallus gallus)
    Aves PLEKHF11 pleckstrin homology domain containing, family F (with more 70.33(n)
    76.19(a)
      427546  XM_004944207.1  XP_004944264.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEKHF16
    pleckstrin homology domain containing, family F (w...
    80(a)
    1 ↔ 1
    GL343874.1(151281-152087)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plekhf11 pleckstrin homology domain containing, family F (with more 58.61(n)
    64.31(a)
      548764  NM_001016010.2  NP_001016010.1 
    zebrafish
    (Danio rerio)
    Actinopterygii plekhf16
    pleckstrin homology domain containing, family F (w...
    40(a)
    1 ↔ 1
    7(47585060-47586479) ENSDARG00000027852
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGEF46
    RhoGEF4
    6(a)
    many ↔ many
    3L(7314199-7316511)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-526
    Protein TAG-52 (tag-52) mRNA, complete cds
    8(a)
    many ↔ many
    X(3674043-3678559) WBGene00006431


    ENSEMBL Gene Tree for PLEKHF1 (if available)
    TreeFam Gene Tree for PLEKHF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for PLEKHF1 gene
    PLEKHF22  FGD32  FGD52  FGD22  FGD62  FGD42  FGD12  
    2 SIMAP similar genes for PLEKHF1 using alignment to 3 protein entries:     PKHF1_HUMAN (see all proteins):
    PLEKHF2    FGD6

    Find genes that share paralogs with PLEKHF1           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

    TryGeneCards Plus

    Selected SNPs for PLEKHF1 (see all 262)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs8910771,2
    C,F,A,H--30154437(-) GGGCCC/TTGTGT 1 -- us2k123Minor allele frequency- T:0.25NS EA NA WA CSA 2244
    rs1437248531,2
    --30154440(+) CAAGGC/TCCCTC 1 -- us2k10--------
    rs777637981,2
    C,F--30154522(+) CCCCAT/CATGAA 1 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1472272881,2
    --30154543(+) CAATGC/TATTTT 1 -- us2k10--------
    rs1404801101,2
    --30154588(+) TTATTC/TGGGTC 1 -- us2k10--------
    rs1913029301,2
    --30154589(+) TATTCG/TGGTCT 1 -- us2k10--------
    rs1809337211,2
    --30154672(+) GGCAAC/TGGTAG 1 -- us2k10--------
    rs790725511,2
    C,F--30154829(+) GGGCCC/TACCTC 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs750954511,2
    C,F--30154922(+) CCCCCC/G/TGCTGC 1 -- us2k12WA EA 238
    rs757605051,2
    C,F--30154954(+) CCCAGC/GAGGCC 1 -- us2k11Minor allele frequency- G:0.12EA 120

    HapMap Linkage Disequilibrium report for PLEKHF1 (30155963 - 30166384 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PLEKHF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833799CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLEKHF1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLEKHF1

    (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

    TryGeneCards Plus
    OMIM gene information: 615200    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for PLEKHF1:
    Hydronephrosis     Vesicoureteral reflux

    Find genes that share disorders with PLEKHF1           About GenesLikeMe


    Export disorders for PLEKHF1 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

    TryGeneCards Plus

    PubMed articles for PLEKHF1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with PLEKHF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The lysosome-associated apoptosis-inducing protein containing the pleckstrin homology (PH) and FYVE domains (LAPF), representative of a novel family of PH and FYVE domain-containing proteins, induces caspase-independent apoptosis via the lysosomal-mitochondrial pathway. (PubMed id 16188880)1, 2 Chen W.... Cao X. (J. Biol. Chem. 2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Lysosomal targeting of phafin1 mediated by Rab7 induces autophagosome formation. (PubMed id 22115783)1 Lin W.J....Lin C.H. (Biochem. Biophys. Res. Commun. 2012)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. EAPF/Phafin-2, a novel endoplasmic reticulum-associated protein, facilitates TNF-alpha-triggered cellular apoptosis through endoplasmic reticulum-mitochondrial apoptotic pathway. (PubMed id 18288467)9 Li C....Cao X. (J. Mol. Med. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 79156 HGNC: 20764 AceView: PLEKHF1 Ensembl:ENSG00000166289 euGenes: HUgn79156
    ECgene: PLEKHF1 H-InvDB: PLEKHF1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PLEKHF1 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for PLEKHF1 gene:
    Search GeneIP for patents involving PLEKHF1

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for PLEKHF1  
     OriGene qPCR primer pairs and template standards for PLEKHF1   OriGene Protein Over-expression Lysate for PLEKHF1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PLEKHF1  
     OriGene qSTAR qPCR primer pairs in human, mouse for PLEKHF1   OriGene Purified Protein for PLEKHF1  
     OriGene ORF clones in mouse, rat for PLEKHF1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PLEKHF1   OriGene Custom Protein Services for PLEKHF1  

     
     
     Block miRNA regulation of human, mouse, rat PLEKHF1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PLEKHF1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHF1 Predesigned siRNA for gene silencing in human, mouse, rat PLEKHF1
     QuantiFast Probe-based Assays in human, mouse, rat PLEKHF1 QuantiTect SYBR Green Assays in human, mouse, rat PLEKHF1
     PCR Arrays including human, mouse, rat PLEKHF1 Search Chromatin IP Primers for PLEKHF1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLEKHF1  Search GeneGlobe Interaction Network for PLEKHF1
     Regulatory tfbs in PLEKHF1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for PLEKHF1 GenScript cDNA clones with any tag delivered in your preferred vector for PLEKHF1
     GenScript Custom Assay Services for PLEKHF1 GenScript Custom overexpressing Cell Line Services for PLEKHF1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PLEKHF1 (PKHF1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PLEKHF1 antibodies
     PLEKHF1 lysates
     Antibodies for PLEKHF1
     See all of Abcam's Antibodies, Kits and Proteins for PLEKHF1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PLEKHF1
     Antibodies for PLEKHF1
     ELISAs for PLEKHF1
     CLIAs for PLEKHF1



     Browse ESI BIO Cell Lines and PureStem Progenitors for PLEKHF1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHF1
     SwitchGear 3'UTR luciferase reporter plasmids for PLEKHF1
     SwitchGear Promoter luciferase reporter plasmids for PLEKHF1
     Search ThermoFisher Antibodies for PLEKHF1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHF1
     Browse compounds at ApexBio
     Search Addgene for plasmids for PLEKHF1
      Search eBioscience for proteins for PLEKHF1
      Search eBioscience for elisas for PLEKHF1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for PLEKHF1
     antibodies-online antibodies for PLEKHF1 (29 products)
     antibodies-online kits for PLEKHF1 (6 products)
     antibodies-online peptides for PLEKHF1
     antibodies-online proteins for PLEKHF1
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

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


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

    Hot genes      Disease genes      PLEKHF1 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4