Aliases for PLEKHN1 Gene

Aliases for PLEKHN1 Gene

  • Pleckstrin Homology Domain Containing N1 2 3 5
  • Pleckstrin Homology Domain-Containing Family N Member 1 3 4
  • Cardiolipin And Phosphatidic Acid-Binding Protein 3 4
  • PH Domain-Containing Family N Member 1 3 4
  • CLPABP 3 4
  • Pleckstrin Homology Domain Containing, Family N Member 1 2
  • DKFZP434H2010 2
  • PLEKHN1 5

External Ids for PLEKHN1 Gene

Previous GeneCards Identifiers for PLEKHN1 Gene

  • GC01P000942
  • GC01P000891
  • GC01P000171
  • GC01P000966
  • GC01P001453
  • GC01P001618

Summaries for PLEKHN1 Gene

GeneCards Summary for PLEKHN1 Gene

PLEKHN1 (Pleckstrin Homology Domain Containing N1) is a Protein Coding gene. An important paralog of this gene is PLEKHG1.

UniProtKB/Swiss-Prot Summary for PLEKHN1 Gene

  • Controls the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR, in cooperation with the RNA stabilizer ELAVL1 (PubMed:29180010). Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity). Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidylserine (PS) (PubMed:18191643). Promotes apoptosis by enhancing BAX-BAK hetero-oligomerization via interaction with BID in colon cancer cells (PubMed:29531808) (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHN1 Gene

Genomics for PLEKHN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHN1 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 PLEKHN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHN1

Top Transcription factor binding sites by QIAGEN in the PLEKHN1 gene promoter:
  • c-Myc
  • CREB
  • deltaCREB
  • Max
  • Max1
  • XBP-1
  • YY1

Genomic Locations for PLEKHN1 Gene

Latest Assembly
chr1:965,820-975,865
(GRCh38/hg38)
Size:
10,046 bases
Orientation:
Plus strand

Previous Assembly
chr1:901,862-911,245
(GRCh37/hg19 by Entrez Gene)
Size:
9,384 bases
Orientation:
Plus strand

chr1:901,877-911,245
(GRCh37/hg19 by Ensembl)
Size:
9,369 bases
Orientation:
Plus strand

Genomic View for PLEKHN1 Gene

Genes around PLEKHN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHN1 Gene

Proteins for PLEKHN1 Gene

  • Protein details for PLEKHN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q494U1-PKHN1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family N member 1
    Protein Accession:
    Q494U1
    Secondary Accessions:
    • Q494U2
    • Q5SV98
    • Q9H0M7

    Protein attributes for PLEKHN1 Gene

    Size:
    611 amino acids
    Molecular mass:
    66409 Da
    Quaternary structure:
    • Found in a complex with cytochrome c mRNA and various ribosomal proteins. Interacts with C1QBP (PubMed:18191643). Interacts with ELAVL1 (PubMed:18191643, PubMed:29531808). Interacts with BID (PubMed:29531808).

    Alternative splice isoforms for PLEKHN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHN1 Gene

Post-translational modifications for PLEKHN1 Gene

  • Phosphorylation is essential for its mitochondrial localization and regulates its interaction with C1QBP.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHN1 Gene

Domains & Families for PLEKHN1 Gene

Gene Families for PLEKHN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PLEKHN1 Gene

Suggested Antigen Peptide Sequences for PLEKHN1 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family N member 1 (PKHN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q494U1

UniProtKB/Swiss-Prot:

PKHN1_HUMAN :
  • Both PH domains are essential for its mitochondrial localization.
Domain:
  • Both PH domains are essential for its mitochondrial localization.
genes like me logo Genes that share domains with PLEKHN1: view

Function for PLEKHN1 Gene

Molecular function for PLEKHN1 Gene

UniProtKB/Swiss-Prot Function:
Controls the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR, in cooperation with the RNA stabilizer ELAVL1 (PubMed:29180010). Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity). Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidylserine (PS) (PubMed:18191643). Promotes apoptosis by enhancing BAX-BAK hetero-oligomerization via interaction with BID in colon cancer cells (PubMed:29531808) (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by hypoxia.

Phenotypes From GWAS Catalog for PLEKHN1 Gene

Gene Ontology (GO) - Molecular Function for PLEKHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 18191643
GO:0005515 protein binding IPI 18191643
GO:0070300 phosphatidic acid binding IBA,IDA 18191643
GO:1901612 cardiolipin binding IEA,IDA 18191643
GO:1901981 phosphatidylinositol phosphate binding IDA 18191643
genes like me logo Genes that share ontologies with PLEKHN1: view
genes like me logo Genes that share phenotypes with PLEKHN1: view

miRNA for PLEKHN1 Gene

miRTarBase miRNAs that target PLEKHN1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHN1 Gene

Localization for PLEKHN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHN1 Gene

Cell membrane. Lipid-anchor. Mitochondrion. Mitochondrion membrane. Note=Interaction with C1QBP and phosphorylation is essential for its mitochondrial localization. Localizes on the microtubule in the form of small granules. {ECO:0000269 PubMed:18191643}.

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 PLEKHN1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
plasma membrane 3
nucleus 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 27616329
GO:0005856 cytoskeleton IBA,IDA 18191643
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IBA,IDA 18191643
genes like me logo Genes that share ontologies with PLEKHN1: view

Pathways & Interactions for PLEKHN1 Gene

PathCards logo

SuperPathways for PLEKHN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 29531808
GO:0043065 positive regulation of apoptotic process IEA,IMP 29531808
GO:0061158 3'-UTR-mediated mRNA destabilization IBA,IDA 29180010
genes like me logo Genes that share ontologies with PLEKHN1: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHN1 Gene

Drugs & Compounds for PLEKHN1 Gene

No Compound Related Data Available

Transcripts for PLEKHN1 Gene

mRNA/cDNA for PLEKHN1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHN1

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: - -
SP2:
SP3: -

Relevant External Links for PLEKHN1 Gene

GeneLoc Exon Structure for
PLEKHN1

Expression for PLEKHN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHN1 Gene

mRNA differential expression in normal tissues according to GTEx for PLEKHN1 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.8), Skin - Not Sun Exposed (Suprapubic) (x9.6), Skin - Sun Exposed (Lower leg) (x8.6), and Vagina (x6.2).

Protein differential expression in normal tissues from HIPED for PLEKHN1 Gene

This gene is overexpressed in Cervix (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHN1 Gene



Protein tissue co-expression partners for PLEKHN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHN1

SOURCE GeneReport for Unigene cluster for PLEKHN1 Gene:

Hs.528691

mRNA Expression by UniProt/SwissProt for PLEKHN1 Gene:

Q494U1-PKHN1_HUMAN
Tissue specificity: Ubiquitous (PubMed:18191643). Epressed in several cancer cell lines of differing origin (PubMed:29531808).
genes like me logo Genes that share expression patterns with PLEKHN1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHN1 Gene

Orthologs for PLEKHN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLEKHN1 29 30
  • 98.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLEKHN1 29 30
  • 80.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekhn1 29
  • 75.43 (n)
Mouse
(Mus musculus)
Mammalia Plekhn1 29 16 30
  • 73.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHN1 30
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 56 (a)
OneToMany
-- 30
  • 45 (a)
OneToMany
-- 30
  • 38 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia PLEKHN1 30
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLEKHN1 30
  • 52 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHN1 30
  • 35 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii plekhn1 30
  • 22 (a)
OneToOne
Species where no ortholog for PLEKHN1 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PLEKHN1 Gene

ENSEMBL:
Gene Tree for PLEKHN1 (if available)
TreeFam:
Gene Tree for PLEKHN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHN1: view image
Alliance of Genome Resources:
Additional Orthologs for PLEKHN1

Paralogs for PLEKHN1 Gene

Variants for PLEKHN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHN1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs145574509 Benign: not provided 972,895(+) G/A
NM_032129.3(PLEKHN1):c.1037G>A (p.Gly346Asp)
MISSENSE
rs149741186 Benign: not provided 966,543(+) C/A
NM_032129.3(PLEKHN1):c.12C>A (p.Ser4Arg)
MISSENSE
rs201434720 Likely Benign: not provided 973,989(+) G/A
NM_032129.3(PLEKHN1):c.1591G>A (p.Ala531Thr)
MISSENSE
rs41285810 Benign: not provided 970,514(+) C/T
NM_032129.3(PLEKHN1):c.331-7C>T
INTRON
rs56185812 Benign: not provided 973,842(+) G/A
NM_032129.3(PLEKHN1):c.1444G>A (p.Ala482Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLEKHN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLEKHN1 Gene

Variant ID Type Subtype PubMed ID
dgv2n67 CNV gain 20364138
dgv5n100 CNV gain 25217958
esv2762302 CNV gain 21179565
esv3451859 CNV duplication 20981092
nsv1013524 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1160644 CNV deletion 26073780
nsv428334 CNV gain 18775914
nsv482937 CNV loss 15286789
nsv509035 CNV insertion 20534489
nsv517709 CNV gain+loss 19592680
nsv544895 CNV loss 21841781
nsv832980 CNV gain 17160897
nsv950451 CNV deletion 24416366

Variation tolerance for PLEKHN1 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.29; 70.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHN1
Leiden Open Variation Database (LOVD)
PLEKHN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHN1 Gene

Disorders for PLEKHN1 Gene

Additional Disease Information for PLEKHN1

No disorders were found for PLEKHN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHN1 Gene

Publications for PLEKHN1 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. PLEKHN1 promotes apoptosis by enhancing Bax-Bak hetro-oligomerization through interaction with Bid in human colon cancer. (PMID: 29531808) Kuriyama S … Tanaka M (Cell death discovery 2018) 3 4
  3. Role of N-myristoylation in stability and subcellular localization of the CLPABP protein. (PMID: 29180010) Maeda A … Konishi H (Biochemical and biophysical research communications 2018) 3 4
  4. Antagonizing effect of CLPABP on the function of HuR as a regulator of ARE-containing leptin mRNA stability and the effect of its depletion on obesity in old male mouse. (PMID: 27616329) Nishino T … Konishi H (Biochimica et biophysica acta 2016) 3 4
  5. Novel tyrosine phosphorylated and cardiolipin-binding protein CLPABP functions as mitochondrial RNA granule. (PMID: 18191643) Sano E … Taniguchi H (Biochimica et biophysica acta 2008) 3 4

Products for PLEKHN1 Gene

Sources for PLEKHN1 Gene