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 3
  • Pleckstrin Homology Domain-Containing Family H Member 1 3 4
  • PH Domain-Containing Family H Member 1 3 4
  • KIAA1200 2 4
  • PLEKHH1 5

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 Mowat-Wilson Syndrome. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHH1 Gene

Genomics for PLEKHH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J067531 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 606.1 +0.2 177 2.8 HNRNPL PRDM10 ZNF629 JUND LARP7 PHF21A ZIC2 RBFOX2 POLR2A PATZ1 TMEM229B PLEKHH1 ZFYVE26
GH14J067530 Enhancer 0.2 dbSUPER 607.2 -1.9 -1906 0.8 PLEKHH1 TMEM229B RF00017-1586 PLEK2
GH14J067409 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11 -120.8 -120794 5.6 CREB1 PRDM10 ZNF629 IKZF1 JUND ZIC2 PATZ1 SP1 ZNF24 DPF2 PLEK2 lnc-TMEM229B-2 lnc-EIF2S1-1 ATP6V1D PLEKHH1
GH14J067487 Promoter/Enhancer 1.2 Ensembl ENCODE 11.6 -44.6 -44644 2.5 SP1 BACH1 LARP7 STAT3 ZNF143 TCF12 IRF2 IKZF2 RCOR1 TRIM22 PLEKHH1 PLEK2 GPHN TMEM229B LOC105370542 RF00017-1586
GH14J067415 Enhancer 1.1 Ensembl ENCODE 11.6 -114.8 -114803 5.3 CTCF HNRNPL LEF1 IKZF1 JUND ZNF143 MTA2 PKNOX1 ZNF24 MTA1 ATP6V1D PLEKHH1 PIGH PLEK2 lnc-EIF2S1-1 MIR5694
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHH1

Top Transcription factor binding sites by QIAGEN in the PLEKHH1 gene promoter:
  • AML1a
  • AREB6
  • GATA-1
  • GATA-2
  • GATA-3
  • Lmo2
  • MyoD
  • Sp1
  • STAT5A

Genomic Locations for PLEKHH1 Gene

Genomic Locations for PLEKHH1 Gene
chr14:67,533,155-67,589,766
(GRCh38/hg38)
Size:
56,612 bases
Orientation:
Plus strand
chr14:68,000,008-68,056,329
(GRCh37/hg19)
Size:
56,322 bases
Orientation:
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:
    Q9ULM0-PKHH1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family H member 1
    Protein Accession:
    Q9ULM0
    Secondary Accessions:
    • A6H8X6
    • Q6PJL4
    • Q6ZWC7

    Protein attributes for PLEKHH1 Gene

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

    Alternative splice isoforms for PLEKHH1 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for PLEKHH1 Gene

Suggested Antigen Peptide Sequences for PLEKHH1 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family H member 1 (PKHH1_HUMAN)
genes like me logo Genes that share domains with PLEKHH1: view

No data available for Graphical View of Domain Structure and 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHH1

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

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 PLEKHH1 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2
extracellular 1

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

PathCards logo

SuperPathways for PLEKHH1 Gene

No Data Available

Interacting Proteins for PLEKHH1 Gene

Gene Ontology (GO) - Biological Process for PLEKHH1 Gene

None

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

mRNA/cDNA for PLEKHH1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
16 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 PLEKHH1

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: - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11: - -
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

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 ·
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6: -
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: -
SP14:
SP15:
SP16: -
SP17:
SP18:
SP19:
SP20:

ExUns: 29b ^ 30a · 30b ^ 31 ^ 32a · 32b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for PLEKHH1 Gene

GeneLoc Exon Structure for
PLEKHH1

Expression for PLEKHH1 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHH1

SOURCE GeneReport for Unigene cluster for PLEKHH1 Gene:

Hs.594236

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

Primer Products

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
Chimpanzee
(Pan troglodytes)
Mammalia PLEKHH1 30 31
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLEKHH1 30 31
  • 88.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHH1 30 31
  • 88.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plekhh1 30 17 31
  • 85.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekhh1 30
  • 85.36 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLEKHH1 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 61 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves PLEKHH1 30 31
  • 70.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHH1 31
  • 57 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii plekhh1 30 31
  • 62.1 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001935 30
  • 56.98 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG43867 30 31
  • 54.65 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea max-1 30 31
  • 42.62 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for PLEKHH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for PLEKHH1 (if available)
TreeFam:
Gene Tree for PLEKHH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHH1: view image

Paralogs for PLEKHH1 Gene

Paralogs for PLEKHH1 Gene

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

  • PKHH1_HUMAN
  • E7ESY2_HUMAN
  • H0YKY5_HUMAN
  • H0YLU5_HUMAN
  • H0YMQ6_HUMAN
genes like me logo Genes that share paralogs with PLEKHH1: view

Variants for PLEKHH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHH1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
774936 Benign: not provided 67,587,182(+) C/T NONSENSE
rs11158685 - p.His735Arg
rs17104428 - p.Met438Val
rs2236235 - p.Arg322Gln
rs3825723 - p.Gln113Leu

Additional dbSNP identifiers (rs#s) for PLEKHH1 Gene

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)
PLEKHH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHH1

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: DISEASES

Disorder Aliases PubMed IDs
mowat-wilson syndrome
  • mws
- elite association - COSMIC cancer census association via MalaCards
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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for PLEKHH1 Gene

  • Biorbyt antibodies for PLEKHH1

Sources for PLEKHH1 Gene