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Aliases for PLEKHH1 Gene

Aliases for PLEKHH1 Gene

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

External Ids for PLEKHH1 Gene

Summaries for PLEKHH1 Gene

GeneCards Summary for PLEKHH1 Gene

PLEKHH1 (Pleckstrin Homology Domain Containing, Family H (With MyTH4 Domain) Member 1) is a Protein Coding gene. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is PLEKHH2.

No data available for Entrez Gene 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

Genomic Location for PLEKHH1 Gene

Start:
67,533,199 bp from pter
End:
67,589,612 bp from pter
Size:
56,414 bases
Orientation:
Plus strand

Genomic View for PLEKHH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLEKHH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHH1 Gene

Regulatory Elements 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

Proteomics data for PLEKHH1 Gene at MOPED

Post-translational modifications for PLEKHH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHH1 Gene

No data available for DME Specific Peptides for PLEKHH1 Gene

Domains for PLEKHH1 Gene

Gene Families for PLEKHH1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

UniProtKB/Swiss-Prot:

PKHH1_HUMAN
Domain:
  • Contains 1 FERM domain.:
    • Q9ULM0
  • Contains 1 MyTH4 domain.:
    • Q9ULM0
  • Contains 2 PH domains.:
    • Q9ULM0
genes like me logo Genes that share domains with PLEKHH1: view

Function for PLEKHH1 Gene

Phenotypes for PLEKHH1 Gene

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

miRNA for PLEKHH1 Gene

miRTarBase miRNAs that target PLEKHH1

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

Localization for PLEKHH1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHH1 Gene COMPARTMENTS Subcellular localization image for PLEKHH1 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
nucleus 2

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

Pathways for PLEKHH1 Gene

SuperPathways for PLEKHH1 Gene

No Data Available

Interacting Proteins for PLEKHH1 Gene

Selected Interacting proteins: Q9ULM0-PKHH1_HUMAN for PLEKHH1 Gene via I2D

Symbol External ID(s) Details
MYC

Gene Ontology (GO) - Biological Process for PLEKHH1 Gene

None

No data available for Pathways by source for PLEKHH1 Gene

Transcripts for PLEKHH1 Gene

Unigene Clusters for PLEKHH1 Gene

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

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
ECgene alternative splicing isoforms for
PLEKHH1

Expression for PLEKHH1 Gene

mRNA expression in normal human tissues 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) (7.2) and Thyroid (6.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PLEKHH1 Gene

SOURCE GeneReport for Unigene cluster for PLEKHH1 Gene Hs.594236

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

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 36
  • 99.36 (n)
  • 98.99 (a)
PLEKHH1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHH1 36
  • 88.05 (n)
  • 87.26 (a)
PLEKHH1 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHH1 36
  • 88.15 (n)
  • 87.3 (a)
PLEKHH1 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhh1 36
  • 85.41 (n)
  • 84.13 (a)
Plekhh1 16
Plekhh1 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHH1 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 61 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Plekhh1 36
  • 85.36 (n)
  • 83.88 (a)
chicken
(Gallus gallus)
Aves PLEKHH1 36
  • 70.04 (n)
  • 70.42 (a)
PLEKHH1 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHH1 37
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plekhh1 36
  • 62.1 (n)
  • 59.88 (a)
plekhh1 37
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001935 36
  • 56.98 (n)
  • 50.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43867 36
  • 54.65 (n)
  • 48.61 (a)
CG43867 37
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea max-1 36
  • 42.62 (n)
  • 33.45 (a)
max-1 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToMany
Species with no ortholog for PLEKHH1:
  • 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

ENSEMBL:
Gene Tree for PLEKHH1 (if available)
TreeFam:
Gene Tree for PLEKHH1 (if available)

Paralogs for PLEKHH1 Gene

Paralogs for PLEKHH1 Gene

Selected 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 Sequence Context AA Info Type MAF
rs731680 -- 67,543,736(-) CCCTC(C/T)GAGAT intron-variant
rs731681 -- 67,543,507(-) ctcta(C/G)gtggt intron-variant
rs734028 -- 67,587,085(-) AAGGT(A/G)GCTTC synonymous-codon, reference, utr-variant-3-prime, downstream-variant-500B
rs749269 -- 67,586,266(+) TCTCC(A/G)TATCA intron-variant
rs749270 -- 67,586,407(+) CGTGC(A/T)CTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv456331 CNV Gain 19166990
nsv470651 CNV Gain 18288195
nsv902066 CNV Gain 21882294
esv2666682 CNV Deletion 23128226
dgv138n21 CNV Loss 19592680

Relevant External Links for PLEKHH1 Gene

HapMap Linkage Disequilibrium report
PLEKHH1
Human Gene Mutation Database (HGMD)
PLEKHH1

Disorders for PLEKHH1 Gene

No disorders were found for PLEKHH1 Gene.

No data available for UniProtKB/Swiss-Prot 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 Res. 1999) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A. … Schmitz G. (PLoS Genet. 2012) 3
  5. 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) 4

Products for PLEKHH1 Gene

Sources for PLEKHH1 Gene

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