Aliases for LHPP Gene

Aliases for LHPP Gene

  • Phospholysine Phosphohistidine Inorganic Pyrophosphate Phosphatase 2 3 4 5
  • HDHD2B 2 3
  • HLHPP 3 4
  • EC 3.1.3.- 4
  • EC 3.6.1.1 4
  • LHPP 5

External Ids for LHPP Gene

Previous GeneCards Identifiers for LHPP Gene

  • GC10P125120
  • GC10P125354
  • GC10P126191
  • GC10P125724
  • GC10P126140
  • GC10P119835

Summaries for LHPP Gene

GeneCards Summary for LHPP Gene

LHPP (Phospholysine Phosphohistidine Inorganic Pyrophosphate Phosphatase) is a Protein Coding gene. Diseases associated with LHPP include Melancholia and Major Depressive Disorder. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and inorganic diphosphatase activity. An important paralog of this gene is HDHD2.

UniProtKB/Swiss-Prot Summary for LHPP Gene

  • Phosphatase that hydrolyzes imidodiphosphate, 3-phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (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 LHPP Gene

Genomics for LHPP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LHPP 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
GH10J124461 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 611.2 +0.3 278 1.8 PRDM10 SIX5 KDM1A ZNF692 RCOR2 BACH1 LARP7 ZNF143 ZIC2 RBFOX2 LHPP FAM53B lnc-NKX1-2-3
GH10J124603 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 609.8 +143.9 143871 3.9 HNRNPL GATAD2A KDM1A ZIC2 RBFOX2 IRF2 ZNF341 KMT2B SOX13 TAF1 LHPP lnc-ABRAXAS2-5 ABRAXAS2 EEF1AKMT2 piR-46839 FAM53B
GH10J124691 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.2 +239.6 239584 19.6 SP1 GATAD2A ZBTB33 PRDM10 RFX1 LEF1 IKZF1 POLR2A JUND STAT3 FAM53B-AS1 EEF1AKMT2 FAM53B LHPP ZRANB1 piR-51734 ENSG00000258539
GH10J124478 Enhancer 0.9 Ensembl ENCODE 15.5 +16.3 16278 1.8 HNRNPL TEAD4 RXRB SP1 ETS1 CTBP1 TGIF2 FOXA2 ESRRA YY1 LHPP lnc-NKX1-2-3 FAM53B
GH10J124598 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +138.7 138745 4.7 MNT ZBTB17 AEBP2 EBF1 ZNF658 ZNF366 HDAC2 ESRRA KDM1A BHLHE40 FAM53B LHPP ABRAXAS2 EEF1AKMT2 lnc-ABRAXAS2-5 piR-46839
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the LHPP gene promoter:
  • Arnt
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • CUTL1
  • GATA-3
  • NF-Y
  • NF-YA
  • Nkx2-5

Genomic Locations for LHPP Gene

Genomic Locations for LHPP Gene
chr10:124,461,823-124,617,888
(GRCh38/hg38)
Size:
156,066 bases
Orientation:
Plus strand
chr10:126,150,341-126,306,457
(GRCh37/hg19)
Size:
156,117 bases
Orientation:
Plus strand

Genomic View for LHPP Gene

Genes around LHPP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LHPP Gene

Proteins for LHPP Gene

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

    Protein Symbol:
    Q9H008-LHPP_HUMAN
    Recommended name:
    Phospholysine phosphohistidine inorganic pyrophosphate phosphatase
    Protein Accession:
    Q9H008
    Secondary Accessions:
    • B3KP20
    • Q2TBE9
    • Q5VUV9
    • Q5VUW0

    Protein attributes for LHPP Gene

    Size:
    270 amino acids
    Molecular mass:
    29165 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for LHPP Gene

    Alternative splice isoforms for LHPP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LHPP Gene

Post-translational modifications for LHPP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LHPP Gene

Domains & Families for LHPP Gene

Gene Families for LHPP Gene

Protein Domains for LHPP Gene

Suggested Antigen Peptide Sequences for LHPP Gene

GenScript: Design optimal peptide antigens:
  • Phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H008

UniProtKB/Swiss-Prot:

LHPP_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily.
Family:
  • Belongs to the HAD-like hydrolase superfamily.
genes like me logo Genes that share domains with LHPP: view

Function for LHPP Gene

Molecular function for LHPP Gene

UniProtKB/Swiss-Prot Function:
Phosphatase that hydrolyzes imidodiphosphate, 3-phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=diphosphate + H2O = H(+) + 2 phosphate; Xref=Rhea:RHEA:24576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:43474; EC=3.6.1.1; Evidence={ECO:0000269|PubMed:12801912};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.0 for PNP, and 5.5 for PPi. {ECO:0000269|PubMed:12801912};

Enzyme Numbers (IUBMB) for LHPP Gene

Phenotypes From GWAS Catalog for LHPP Gene

Gene Ontology (GO) - Molecular Function for LHPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0004427 inorganic diphosphatase activity IBA,IDA 12801912
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IBA 21873635
GO:0042803 protein homodimerization activity IPI 12801912
genes like me logo Genes that share ontologies with LHPP: view
genes like me logo Genes that share phenotypes with LHPP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LHPP Gene

Localization for LHPP Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHPP Gene

Cytoplasm. Nucleus.

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 LHPP gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LHPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16430861
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with LHPP: view

Pathways & Interactions for LHPP Gene

genes like me logo Genes that share pathways with LHPP: view

Pathways by source for LHPP Gene

Gene Ontology (GO) - Biological Process for LHPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IBA,ISS --
GO:0006796 phosphate-containing compound metabolic process IDA 12801912
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
GO:0016311 dephosphorylation IBA 21873635
genes like me logo Genes that share ontologies with LHPP: view

No data available for SIGNOR curated interactions for LHPP Gene

Drugs & Compounds for LHPP Gene

(2) Drugs for LHPP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for LHPP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with LHPP: view

Transcripts for LHPP Gene

mRNA/cDNA for LHPP Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 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 LHPP

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - - - - -
SP2:
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: -
SP7:
SP8: - -

Relevant External Links for LHPP Gene

GeneLoc Exon Structure for
LHPP

Expression for LHPP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.7) and Brain - Substantia nigra (x5.2).

Protein differential expression in normal tissues from HIPED for LHPP Gene

This gene is overexpressed in Salivary gland (7.7) and Brain (6.7).

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



Protein tissue co-expression partners for LHPP Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for LHPP Gene:

Hs.527748

mRNA Expression by UniProt/SwissProt for LHPP Gene:

Q9H008-LHPP_HUMAN
Tissue specificity: Expressed in brain, and at lower levels in liver and kidney. Detected in thyroid (at protein level). Expressed in liver, kidney and moderately in brain.

Evidence on tissue expression from TISSUES for LHPP Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Heart(4.3)
  • Thyroid gland(2.4)
genes like me logo Genes that share expression patterns with LHPP: view

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

Orthologs for LHPP Gene

This gene was present in the common ancestor of animals.

Orthologs for LHPP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LHPP 30 31
  • 97.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LHPP 30 31
  • 88.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LHPP 30 31
  • 88.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lhpp 30
  • 85.06 (n)
Mouse
(Mus musculus)
Mammalia Lhpp 30 17 31
  • 84.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LHPP 31
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LHPP 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LHPP 30 31
  • 70.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LHPP 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lhpp 30
  • 65.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii lhpp 30 31
  • 64.36 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.364 30
Worm
(Caenorhabditis elegans)
Secernentea C13C4.4 30 31 32
  • 50.26 (n)
OneToOne
Species where no ortholog for LHPP 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)
  • 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 LHPP Gene

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

Paralogs for LHPP Gene

Paralogs for LHPP Gene

(1) SIMAP similar genes for LHPP Gene using alignment to 2 proteins:

  • LHPP_HUMAN
  • Q5T1Z0_HUMAN
genes like me logo Genes that share paralogs with LHPP: view

Variants for LHPP Gene

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

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
709988 Benign: not provided 124,517,198(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
770397 Benign: not provided 124,484,332(+) C/A INTRON_VARIANT
776550 Benign: not provided 124,517,260(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
rs6597801 - p.Gln94Arg

Additional dbSNP identifiers (rs#s) for LHPP Gene

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

Variant ID Type Subtype PubMed ID
dgv1414n54 CNV loss 21841781
dgv1415n54 CNV loss 21841781
dgv518e59 CNV duplication 20981092
esv1003661 CNV insertion 20482838
esv1016617 CNV insertion 17803354
esv1167776 CNV insertion 17803354
esv1191959 CNV insertion 17803354
esv1340327 CNV deletion 17803354
esv1467242 CNV insertion 17803354
esv1576703 CNV deletion 17803354
esv1604965 CNV deletion 17803354
esv22846 CNV loss 19812545
esv2665311 CNV deletion 23128226
esv2669799 CNV deletion 23128226
esv2670017 CNV deletion 23128226
esv29125 CNV loss 19812545
esv3361696 CNV duplication 20981092
esv3407304 CNV duplication 20981092
esv3546991 CNV deletion 23714750
esv3624812 CNV loss 21293372
esv3624813 CNV loss 21293372
esv3624814 CNV loss 21293372
esv5813 CNV loss 19470904
nsv1050670 CNV gain 25217958
nsv1122563 CNV deletion 24896259
nsv1137966 CNV deletion 24896259
nsv467470 CNV loss 19166990
nsv467471 CNV loss 19166990
nsv467473 CNV loss 19166990
nsv511460 CNV gain 21212237
nsv513020 CNV insertion 21212237
nsv515761 CNV loss 19592680
nsv516914 CNV loss 19592680
nsv517982 CNV loss 19592680
nsv521161 CNV gain+loss 19592680
nsv525263 CNV gain 19592680
nsv526655 CNV loss 19592680
nsv552279 CNV loss 21841781
nsv552282 CNV gain+loss 21841781
nsv552284 CNV gain 21841781
nsv552286 CNV loss 21841781
nsv552287 CNV loss 21841781
nsv552288 CNV loss 21841781
nsv7589 CNV insertion 18451855
nsv818787 CNV loss 17921354
nsv821023 CNV deletion 20802225
nsv832013 CNV loss 17160897
nsv948215 CNV duplication 23825009

Variation tolerance for LHPP Gene

Residual Variation Intolerance Score: 63.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LHPP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHPP

SNP Genotyping and Copy Number Assay Products

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

Disorders for LHPP Gene

MalaCards: The human disease database

(2) MalaCards diseases for LHPP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
melancholia
major depressive disorder
  • mdd
- elite association - COSMIC cancer census association via MalaCards
Search LHPP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LHPP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with LHPP: view

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

Publications for LHPP Gene

  1. Expression of new human inorganic pyrophosphatase in thyroid diseases: its intimate association with hyperthyroidism. (PMID: 16430861) Koike E … Sugihara H (Biochemical and biophysical research communications 2006) 2 3 4 23
  2. Molecular cloning of a cDNA for the human phospholysine phosphohistidine inorganic pyrophosphate phosphatase. (PMID: 12801912) Yokoi F … Izuhara K (Journal of biochemistry 2003) 2 3 4 23
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for LHPP Gene

Sources for LHPP Gene