Aliases for PLEKHF1 Gene

Aliases for PLEKHF1 Gene

  • Pleckstrin Homology And FYVE Domain Containing 1 2 3 5
  • ZFYVE15 2 3 4
  • APPD 2 3 4
  • 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
  • Pleckstrin Homology Domain-Containing Family F Member 1 3 4
  • 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
  • PHAFIN1 2 3
  • LAPF 3 4
  • Apoptosis-Inducing Protein D 3
  • Apoptosis-Inducing Protein 4
  • Phafin 1 3
  • Phafin-1 4
  • PLEKHF1 5
  • MGC4090 2

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. Diseases associated with PLEKHF1 include 46,Xy Sex Reversal 8 and Congenital Anomalies Of Kidney And Urinary Tract 2. Gene Ontology (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 Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHF1 Gene

Genomics for PLEKHF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHF1

Top Transcription factor binding sites by QIAGEN in the PLEKHF1 gene promoter:
  • ATF-2
  • c-Fos
  • c-Jun
  • CRE-BP1
  • Evi-1
  • HSF1 (long)
  • HSF1short
  • MyoD
  • Nkx5-1
  • PPAR-alpha

Genomic Locations for PLEKHF1 Gene

Genomic Locations for PLEKHF1 Gene
chr19:29,665,422-29,675,477
(GRCh38/hg38)
Size:
10,056 bases
Orientation:
Plus strand
chr19:30,155,963-30,166,384
(GRCh37/hg19)
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

Gene Families for PLEKHF1 Gene

Protein Domains for PLEKHF1 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • Zn-finger, FYVE type
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHF1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger FYVE domain-containing protein 15 (PKHF1_HUMAN)

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.
Domain:
  • PH and FYVE-type zinc finger domains are required for lysosomal location.
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.

Phenotypes From GWAS Catalog for PLEKHF1 Gene

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:0035091 phosphatidylinositol binding IBA 21873635
GO:0046872 metal ion binding IEA --
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

CRISPR Products

miRNA for PLEKHF1 Gene

miRTarBase miRNAs that target PLEKHF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHF1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHF1 gene
Compartment Confidence
nucleus 4
endosome 4
lysosome 4
cytosol 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLEKHF1 Gene

Pathways & Interactions for PLEKHF1 Gene

PathCards logo

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

Drugs & Compounds for PLEKHF1 Gene

No Compound Related Data Available

Transcripts for PLEKHF1 Gene

mRNA/cDNA for PLEKHF1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHF1

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

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 and MOPED for PLEKHF1 Gene



Protein tissue co-expression partners for PLEKHF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for PLEKHF1 Gene

  • Nervous system(4.4)
  • Muscle(2.6)
  • Blood(2)
genes like me logo Genes that share expression patterns with PLEKHF1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHF1 Gene

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 30 31
  • 98.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia bta-mir-2901 31
  • 92 (a)
OneToOne
PLEKHF1 30
  • 89.49 (n)
Dog
(Canis familiaris)
Mammalia PLEKHF1 30 31
  • 89.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekhf1 30
  • 84.95 (n)
Mouse
(Mus musculus)
Mammalia Plekhf1 30 17 31
  • 83.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLEKHF1 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHF1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLEKHF1 30 31
  • 70.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHF1 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plekhf1 30
  • 58.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii plekhf1 31
  • 40 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGEF4 31
  • 6 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea tag-52 31
  • 8 (a)
ManyToMany
Species where no ortholog for PLEKHF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHF1: view image

Paralogs for PLEKHF1 Gene

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

  • PKHF1_HUMAN
  • K7EIX0_HUMAN
  • K7ELB8_HUMAN
genes like me logo Genes that share paralogs with PLEKHF1: view

Variants for PLEKHF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHF1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
711219 Benign: not provided 29,674,486(+) G/A MISSENSE_VARIANT
727604 Likely Benign: not provided 29,674,562(+) G/T SYNONYMOUS_VARIANT
730019 Benign: not provided 29,674,083(+) C/T SYNONYMOUS_VARIANT
769452 Benign: not provided 29,673,890(+) A/G SYNONYMOUS_VARIANT
777467 Benign: not provided 29,674,277(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PLEKHF1 Gene

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)

Additional Variant Information for PLEKHF1 Gene

Human Gene Mutation Database (HGMD)
PLEKHF1
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

MalaCards: The human disease database

(7) MalaCards diseases for PLEKHF1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PLEKHF1: view

No data available for 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 (The Journal of biological chemistry 2005) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for PLEKHF1 Gene

Sources for PLEKHF1 Gene