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Aliases for PLEKHH1 Gene

Aliases for PLEKHH1 Gene

  • Pleckstrin Homology, MyTH4 And FERM Domain Containing H1 2 3 5
  • Pleckstrin Homology Domain Containing, Family H (With MyTH4 Domain) Member 1 2
  • PH Domain-Containing Family H Member 1 4
  • KIAA1200 4

External Ids for PLEKHH1 Gene

Previous GeneCards Identifiers for PLEKHH1 Gene

  • GC14P065990
  • GC14U900232
  • GC14P065989
  • GC14P067069
  • GC14P068000
  • GC14P048169

Summaries for PLEKHH1 Gene

GeneCards Summary for PLEKHH1 Gene

PLEKHH1 (Pleckstrin Homology, MyTH4 And FERM Domain Containing H1) is a Protein Coding gene. Diseases associated with PLEKHH1 include Gestational Trophoblastic Neoplasm. An important paralog of this gene is PLEKHH2.

Additional gene information for PLEKHH1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHH1 Gene

Genomics for PLEKHH1 Gene

GeneHancer (GH) Regulatory Elements for PLEKHH1 Gene

Promoters and enhancers for PLEKHH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I067531 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.2 +0.1 133 2.8 ATF1 ARNT SIN3A ZBTB7B ZNF48 POLR2B GLIS2 ATF7 SP3 REST TMEM229B PLEKHH1 ZFYVE26
GH14I067530 Enhancer 0.2 dbSUPER 557.3 -2.0 -1950 0.8 PLEKHH1 TMEM229B LOC105370542
GH14I067409 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 -120.8 -120838 5.6 PKNOX1 ATF1 SIN3A GLIS2 ELK1 ATF7 FOS DEK REST SMARCB1 PLEK2 ATP6V1D ZFYVE26 PLEKHH1 MIR5694
GH14I067487 Promoter/Enhancer 1.3 Ensembl ENCODE 11.6 -44.7 -44688 2.5 HDGF PKNOX1 RB1 ARID4B BMI1 BATF KLF5 IRF4 ZNF143 ATF7 PLEKHH1 PLEK2 GPHN TMEM229B LOC105370542
GH14I067570 Enhancer 0.7 dbSUPER 16.6 +38.3 38300 1.8 CTCF KLF1 PKNOX1 MAX RAD21 TEAD3 CTBP1 GATA3 SMC3 ZNF143 PLEKHH1 PLEK2 ENSG00000201529 ARG2 PIGH PIR48522 TMEM229B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHH1 gene promoter:

Genomic Locations for PLEKHH1 Gene

Genomic Locations for PLEKHH1 Gene
56,414 bases
Plus strand

Genomic View for PLEKHH1 Gene

Genes around PLEKHH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHH1 Gene

Proteins for PLEKHH1 Gene

  • Protein details for PLEKHH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pleckstrin homology domain-containing family H member 1
    Protein Accession:
    Secondary Accessions:
    • A6H8X6
    • Q6PJL4
    • Q6ZWC7

    Protein attributes for PLEKHH1 Gene

    1364 amino acids
    Molecular mass:
    151232 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA86514.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHH1 Gene


neXtProt entry for PLEKHH1 Gene

Post-translational modifications for PLEKHH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHH1 Gene

Domains & Families for PLEKHH1 Gene

Gene Families for PLEKHH1 Gene

Suggested Antigen Peptide Sequences for PLEKHH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLEKHH1: view

No data available for UniProtKB/Swiss-Prot for PLEKHH1 Gene

Function for PLEKHH1 Gene

Phenotypes From GWAS Catalog for PLEKHH1 Gene

genes like me logo Genes that share phenotypes with PLEKHH1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHH1 Gene

Localization for PLEKHH1 Gene

Subcellular locations from

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 PLEKHH1 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLEKHH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PLEKHH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLEKHH1 Gene

Pathways & Interactions for PLEKHH1 Gene

SuperPathways for PLEKHH1 Gene

No Data Available

Interacting Proteins for PLEKHH1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: Q9ULM0-PKHH1_HUMAN ENSP00000330278 for PLEKHH1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PLEKHH1 Gene


No data available for Pathways by source and SIGNOR curated interactions for PLEKHH1 Gene

Drugs & Compounds for PLEKHH1 Gene

No Compound Related Data Available

Transcripts for PLEKHH1 Gene

Unigene Clusters for PLEKHH1 Gene

Pleckstrin homology domain containing, family H (with MyTH4 domain) member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15a · 15b ^ 16a ·
SP1: - -
SP3: -
SP10: - -
SP11: - -
SP14: -

ExUns: 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a · 25b · 25c · 25d ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a ·
SP2: - -
SP6: -
SP7: - - -
SP12: -
SP13: -
SP16: -

ExUns: 29b ^ 30a · 30b ^ 31 ^ 32a · 32b
SP13: -

Relevant External Links for PLEKHH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLEKHH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHH1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.2) and Thyroid (x6.8).

Protein differential expression in normal tissues from HIPED for PLEKHH1 Gene

This gene is overexpressed in Synovial fluid (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLEKHH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHH1 Gene:


SOURCE GeneReport for Unigene cluster for PLEKHH1 Gene:


Evidence on tissue expression from TISSUES for PLEKHH1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with PLEKHH1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHH1 Gene

Orthologs for PLEKHH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PLEKHH1 33 34
  • 99.36 (n)
(Canis familiaris)
Mammalia PLEKHH1 33 34
  • 88.15 (n)
(Bos Taurus)
Mammalia PLEKHH1 33 34
  • 88.05 (n)
(Mus musculus)
Mammalia Plekhh1 33 16 34
  • 85.41 (n)
(Rattus norvegicus)
Mammalia Plekhh1 33
  • 85.36 (n)
(Monodelphis domestica)
Mammalia PLEKHH1 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
(Gallus gallus)
Aves PLEKHH1 33 34
  • 70.04 (n)
(Anolis carolinensis)
Reptilia PLEKHH1 34
  • 57 (a)
(Danio rerio)
Actinopterygii plekhh1 33 34
  • 62.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001935 33
  • 56.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43867 33 34
  • 54.65 (n)
(Caenorhabditis elegans)
Secernentea max-1 33 34
  • 42.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
Species where no ortholog for PLEKHH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)

Evolution for PLEKHH1 Gene

Gene Tree for PLEKHH1 (if available)
Gene Tree for PLEKHH1 (if available)

Paralogs for PLEKHH1 Gene

Paralogs for PLEKHH1 Gene

(2) SIMAP similar genes for PLEKHH1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PLEKHH1: view

Variants for PLEKHH1 Gene

Sequence variations from dbSNP and Humsavar for PLEKHH1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000053876 -- 67,534,514(+) TTGTTGT/TTGT genic_upstream_transcript_variant, intron_variant
rs1000063970 -- 67,546,962(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000074186 -- 67,536,492(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000090398 -- 67,540,224(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000099512 -- 67,570,108(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHH1 Gene

Variant ID Type Subtype PubMed ID
dgv138n21 CNV loss 19592680
dgv647e212 CNV loss 25503493
esv2666682 CNV deletion 23128226
esv3634804 CNV loss 21293372
esv3634805 CNV loss 21293372
esv3892557 CNV gain 25118596
nsv456331 CNV gain 19166990
nsv470651 CNV gain 18288195
nsv564961 CNV gain 21841781

Variation tolerance for PLEKHH1 Gene

Residual Variation Intolerance Score: 97.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.11; 98.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHH1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHH1 Gene

Disorders for PLEKHH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHH1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
gestational trophoblastic neoplasm
  • hydatidiform mole, recurrent, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHH1

genes like me logo Genes that share disorders with PLEKHH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHH1 Gene

Publications for PLEKHH1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A … EUROSPAN consortium (PLoS genetics 2012) 3 58

Products for PLEKHH1 Gene

Sources for PLEKHH1 Gene

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