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Aliases for PLEKHF1 Gene

Aliases for PLEKHF1 Gene

  • Pleckstrin Homology And FYVE Domain Containing 1 2 3 5
  • Lysosome-Associated Apoptosis-Inducing Protein Containing PH And FYVE Domains 3 4
  • Pleckstrin Homology Domain Containing, Family F (With FYVE Domain) Member 1 2 3
  • Zinc Finger FYVE Domain-Containing Protein 15 3 4
  • PH And FYVE Domain-Containing Protein 1 3 4
  • PH Domain-Containing Family F Member 1 3 4
  • ZFYVE15 3 4
  • APPD 3 4
  • LAPF 3 4
  • Pleckstrin Homology Domain-Containing Family F Member 1 3
  • Apoptosis-Inducing Protein D 3
  • Apoptosis-Inducing Protein 4
  • Phafin 1 3
  • Phafin-1 4
  • PHAFIN1 3

External Ids for PLEKHF1 Gene

Previous GeneCards Identifiers for PLEKHF1 Gene

  • GC19P030604
  • GC19P034832
  • GC19P034847
  • GC19P030155
  • GC19P026668

Summaries for PLEKHF1 Gene

GeneCards Summary for PLEKHF1 Gene

PLEKHF1 (Pleckstrin Homology And FYVE Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-5-phosphate binding. An important paralog of this gene is PLEKHF2.

UniProtKB/Swiss-Prot for PLEKHF1 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHF1 Gene

Genomics for PLEKHF1 Gene

Regulatory Elements for PLEKHF1 Gene

Enhancers for PLEKHF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F029660 0.9 FANTOM5 Ensembl ENCODE 14.8 +4.3 4288 17.2 HDGF PKNOX1 SIN3A FEZF1 YBX1 ZNF2 YY1 ZNF302 ZNF143 ZNF548 ENSG00000267574 LOC126170 LOC105372350 PLEKHF1 RPL9P32 C19orf12 URI1 LOC105372353 GC19M029684
GH19F029678 1.5 FANTOM5 Ensembl ENCODE 3.7 +15.8 15768 5.0 HDGF INSM2 ZNF48 RAD21 ZBTB40 ZNF155 YY1 ZNF302 SCRT2 ETV6 ENSG00000267574 LOC126170 LOC105372350 RPL9P32 C19orf12 PLEKHF1 URI1 GC19M029684 LOC105372353
GH19F029830 1.5 FANTOM5 Ensembl ENCODE 1.7 +166.4 166403 1.4 KLF1 RAD51 MCM3 CCNE1 URI1 C19orf12 PLEKHF1 POP4 ENSG00000267433
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PLEKHF1 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000345350 844 2201 ATF1 ZNF493 ZNF133 SIN3A FEZF1 GLI4 ZNF121 GLIS2 KLF7 ZNF263

Genomic Location for PLEKHF1 Gene

Chromosome:
19
Start:
29,665,056 bp from pter
End:
29,675,477 bp from pter
Size:
10,422 bases
Orientation:
Plus strand

Genomic View for PLEKHF1 Gene

Genes around PLEKHF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHF1 Gene

Proteins for PLEKHF1 Gene

  • Protein details for PLEKHF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S99-PKHF1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family F member 1
    Protein Accession:
    Q96S99
    Secondary Accessions:
    • Q96K11
    • Q9BUB9

    Protein attributes for PLEKHF1 Gene

    Size:
    279 amino acids
    Molecular mass:
    31195 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLEKHF1 Gene

Post-translational modifications for PLEKHF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHF1 Gene

No data available for DME Specific Peptides for PLEKHF1 Gene

Domains & Families for PLEKHF1 Gene

Suggested Antigen Peptide Sequences for PLEKHF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96S99

UniProtKB/Swiss-Prot:

PKHF1_HUMAN :
  • PH and FYVE-type zinc finger domains are required for lysosomal location.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • PH and FYVE-type zinc finger domains are required for lysosomal location.
  • Contains 1 PH domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with PLEKHF1: view

Function for PLEKHF1 Gene

Molecular function for PLEKHF1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PLEKHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0010314 phosphatidylinositol-5-phosphate binding IDA 22115783
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 22115783
GO:0046872 metal ion binding IEA --
GO:0070273 phosphatidylinositol-4-phosphate binding IDA 22115783
genes like me logo Genes that share ontologies with PLEKHF1: view
genes like me logo Genes that share phenotypes with PLEKHF1: view

Animal Model Products

miRNA for PLEKHF1 Gene

miRTarBase miRNAs that target PLEKHF1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHF1 Gene

Localization for PLEKHF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHF1 Gene

Nucleus. Cytoplasm, perinuclear region. Lysosome. Note=Translocates to lysosome during apoptosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHF1 Gene COMPARTMENTS Subcellular localization image for PLEKHF1 gene
Compartment Confidence
lysosome 5
vacuole 5
endosome 4
nucleus 4
cytosol 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PLEKHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IDA 22115783
GO:0005765 lysosomal membrane IC 22115783
GO:0005768 colocalizes_with endosome IDA 22115783
genes like me logo Genes that share ontologies with PLEKHF1: view

Pathways & Interactions for PLEKHF1 Gene

SuperPathways for PLEKHF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007032 endosome organization IMP 22115783
GO:0010508 positive regulation of autophagy IDA 22115783
GO:0016050 vesicle organization IMP 22115783
GO:0072659 protein localization to plasma membrane IMP 22115783
genes like me logo Genes that share ontologies with PLEKHF1: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHF1 Gene

Transcripts for PLEKHF1 Gene

Unigene Clusters for PLEKHF1 Gene

Pleckstrin homology domain containing, family F (with FYVE domain) member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHF1 Gene

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

Relevant External Links for PLEKHF1 Gene

GeneLoc Exon Structure for
PLEKHF1
ECgene alternative splicing isoforms for
PLEKHF1

Expression for PLEKHF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHF1 Gene

This gene is overexpressed in Muscle - Skeletal (x6.0).

Protein differential expression in normal tissues from HIPED for PLEKHF1 Gene

This gene is overexpressed in NK cells (29.2) and CD8 Tcells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLEKHF1 Gene



Protein tissue co-expression partners for PLEKHF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHF1 Gene:

PLEKHF1

SOURCE GeneReport for Unigene cluster for PLEKHF1 Gene:

Hs.466383

mRNA Expression by UniProt/SwissProt for PLEKHF1 Gene:

Q96S99-PKHF1_HUMAN
Tissue specificity: Highly expressed in heart and skeletal muscle. Weakly expressed in brain, thymus, spleen, kidney, liver, small intestine, placenta and lung.
genes like me logo Genes that share expression patterns with PLEKHF1: view

Primer Products

Orthologs for PLEKHF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHF1 34 35
  • 98.92 (n)
cow
(Bos Taurus)
Mammalia bta-mir-2901 35
  • 92 (a)
OneToOne
PLEKHF1 34
  • 89.49 (n)
dog
(Canis familiaris)
Mammalia PLEKHF1 34 35
  • 89.69 (n)
rat
(Rattus norvegicus)
Mammalia Plekhf1 34
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia Plekhf1 34 16 35
  • 83.87 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHF1 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHF1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHF1 34 35
  • 70.33 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHF1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhf1 34
  • 58.61 (n)
zebrafish
(Danio rerio)
Actinopterygii plekhf1 35
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF4 35
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-52 35
  • 8 (a)
ManyToMany
Species where no ortholog for PLEKHF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLEKHF1 Gene

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

Paralogs for PLEKHF1 Gene

Paralogs for PLEKHF1 Gene

(2) SIMAP similar genes for PLEKHF1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PLEKHF1: view

Variants for PLEKHF1 Gene

Sequence variations from dbSNP and Humsavar for PLEKHF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10424881 -- 29,671,588(+) GTCAG(G/T)TCTGT intron-variant
rs10597382 -- 29,665,399(+) AGCCA(-/CC)GCGGG upstream-variant-2KB
rs10601020 -- 29,666,190(+) AAAGC(-/AG)AGAGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs111917929 -- 29,667,289(+) TGGCT(C/T)TCAGA intron-variant
rs111957630 -- 29,673,890(+) GCGGC(A/G)GTGGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PLEKHF1 Gene

Variant ID Type Subtype PubMed ID
nsv1061174 CNV gain 25217958
nsv1061604 CNV loss 25217958
nsv833799 CNV gain 17160897

Variation tolerance for PLEKHF1 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHF1 Gene

Disorders for PLEKHF1 Gene

Relevant External Links for PLEKHF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHF1

No disorders were found for PLEKHF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHF1 Gene

Publications for PLEKHF1 Gene

  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. (PMID: 16188880) Chen W. … Cao X. (J. Biol. Chem. 2005) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Lysosomal targeting of phafin1 mediated by Rab7 induces autophagosome formation. (PMID: 22115783) Lin W.J. … Lin C.H. (Biochem. Biophys. Res. Commun. 2012) 3 64

Products for PLEKHF1 Gene

Sources for PLEKHF1 Gene

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