This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 201... See more...

Aliases for PHPT1 Gene

Aliases for PHPT1 Gene

  • Phosphohistidine Phosphatase 1 2 3 4 5
  • PHP14 2 3 4
  • 14 KDa Phosphohistidine Phosphatase 3 4
  • Sex-Regulated Protein Janus-A 2 3
  • Protein Histidine Phosphatase 3 4
  • Protein Janus-A Homolog 3 4
  • CGI-202 2 3
  • HSPC141 2 3
  • PHP 3 4
  • Epididymis Secretory Sperm Binding Protein Li 132P 3
  • Phosphohistidine Phosphatase 14kDa 2
  • DKFZp564M173 2
  • BA216L13.10 2
  • HEL-S-132P 3
  • EC 3.9.1.3 4
  • EC 3.1.3 51
  • PHPT1 5

External Ids for PHPT1 Gene

Previous GeneCards Identifiers for PHPT1 Gene

  • GC09P135101
  • GC09P137019
  • GC09P138862
  • GC09P139743
  • GC09P109202

Summaries for PHPT1 Gene

Entrez Gene Summary for PHPT1 Gene

  • This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for PHPT1 Gene

PHPT1 (Phosphohistidine Phosphatase 1) is a Protein Coding gene. Diseases associated with PHPT1 include Retinohepatoendocrinologic Syndrome. Gene Ontology (GO) annotations related to this gene include ion channel binding and calcium channel inhibitor activity.

UniProtKB/Swiss-Prot Summary for PHPT1 Gene

Gene Wiki entry for PHPT1 Gene

Additional gene information for PHPT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHPT1 Gene

Genomics for PHPT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PHPT1 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 PHPT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHPT1

Top Transcription factor binding sites by QIAGEN in the PHPT1 gene promoter:
  • aMEF-2
  • AREB6
  • C/EBPalpha
  • CBF(2)
  • E47
  • MEF-2A
  • NF-1
  • NF-1/L
  • NF-Y
  • SEF-1 (1)

Genomic Locations for PHPT1 Gene

Genomic Locations for PHPT1 Gene
chr9:136,848,724-136,851,027
(GRCh38/hg38)
Size:
2,304 bases
Orientation:
Plus strand
chr9:139,743,176-139,745,490
(GRCh37/hg19)
Size:
2,315 bases
Orientation:
Plus strand

Genomic View for PHPT1 Gene

Genes around PHPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHPT1 Gene

Proteins for PHPT1 Gene

  • Protein details for PHPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRX4-PHP14_HUMAN
    Recommended name:
    14 kDa phosphohistidine phosphatase
    Protein Accession:
    Q9NRX4
    Secondary Accessions:
    • B1AMX0
    • B1AMX1
    • Q9H0Y3

    Protein attributes for PHPT1 Gene

    Size:
    125 amino acids
    Molecular mass:
    13833 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for PHPT1 Gene

    Alternative splice isoforms for PHPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHPT1 Gene

Selected DME Specific Peptides for PHPT1 Gene

Q9NRX4:
  • KWAEYHADIYDK
  • DCECLGGGR
  • KIHVYGY

Post-translational modifications for PHPT1 Gene

  • Ubiquitination at Lys59
  • Modification sites at PhosphoSitePlus

Other Protein References for PHPT1 Gene

Domains & Families for PHPT1 Gene

Gene Families for PHPT1 Gene

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

Protein Domains for PHPT1 Gene

InterPro:
Blocks:
  • Janus/Ocnus
ProtoNet:

Suggested Antigen Peptide Sequences for PHPT1 Gene

GenScript: Design optimal peptide antigens:
  • Protein janus-A homolog (PHP14_HUMAN)
  • PHP14 protein (Q6FIE5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRX4

UniProtKB/Swiss-Prot:

PHP14_HUMAN :
  • Belongs to the janus family.
Family:
  • Belongs to the janus family.
genes like me logo Genes that share domains with PHPT1: view

Function for PHPT1 Gene

Molecular function for PHPT1 Gene

UniProtKB/Swiss-Prot Function:
Exhibits phosphohistidine phosphatase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(pros)-phospho-L-histidyl-[protein] = L-histidyl-[protein] + phosphate; Xref=Rhea:RHEA:47964, Rhea:RHEA-COMP:9745, Rhea:RHEA-COMP:9746, ChEBI:CHEBI:15377, ChEBI:CHEBI:29979, ChEBI:CHEBI:43474, ChEBI:CHEBI:64837; EC=3.9.1.3; Evidence={ECO:0000269|PubMed:19836471, ECO:0000269|PubMed:25574816};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(tele)-phospho-L-histidyl-[protein] = L-histidyl-[protein] + phosphate; Xref=Rhea:RHEA:47960, Rhea:RHEA-COMP:9745, Rhea:RHEA-COMP:10719, ChEBI:CHEBI:15377, ChEBI:CHEBI:29979, ChEBI:CHEBI:43474, ChEBI:CHEBI:83586; EC=3.9.1.3; Evidence={ECO:0000269|PubMed:19836471, ECO:0000269|PubMed:25574816};.

Enzyme Numbers (IUBMB) for PHPT1 Gene

Gene Ontology (GO) - Molecular Function for PHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0005515 protein binding IPI 18796614
GO:0016787 hydrolase activity IEA --
GO:0019855 calcium channel inhibitor activity IDA 18796614
GO:0044325 ion channel binding IPI 18796614
genes like me logo Genes that share ontologies with PHPT1: view
genes like me logo Genes that share phenotypes with PHPT1: view

Animal Models for PHPT1 Gene

MGI Knock Outs for PHPT1:
  • Phpt1 Phpt1<tm1.1(KOMP)Vlcg>
  • Phpt1 Phpt1<tm1.1Eys>

Animal Model Products

CRISPR Products

miRNA for PHPT1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHPT1

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PHPT1 Gene

Localization for PHPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHPT1 Gene

Cytoplasm.

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 PHPT1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 20501872
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PHPT1: view

Pathways & Interactions for PHPT1 Gene

PathCards logo

SuperPathways for PHPT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA,IDA 20501872
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA --
GO:0035971 peptidyl-histidine dephosphorylation IBA,IDA 16219293
GO:0050860 negative regulation of T cell receptor signaling pathway IMP 18796614
GO:0051350 negative regulation of lyase activity IDA 20110805
genes like me logo Genes that share ontologies with PHPT1: view

No data available for Pathways by source and SIGNOR curated interactions for PHPT1 Gene

Drugs & Compounds for PHPT1 Gene

(6) Drugs for PHPT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Thiamine Approved, Investigational, Vet_approved Nutra 165,165
NAD Experimental Pharma Agonist, Full agonist, Activator 0
NADP Experimental Pharma 0

(8) Additional Compounds for PHPT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Amino-6-(5'-phosphoribitylamino)uracil
  • 5-amino-2,6-Dioxy-4-(5'-phosphoribitylamino)pyrimidine
  • 5-amino-6-(5-phosphoribitylamino)Uracil
5-Amino-6-ribitylamino uracil
  • 1-[(5-amino-2,6-Dihydroxypyrimidin-4-yl)amino]-1-deoxy-D-ribitol
  • 1-[(5-amino-2,6-dioxo-1,2,3,6-Tetrahydropyrimidin-4-yl)amino]-1-deoxy-D-ribitol
  • 4-(1-D-ribitylamino)-5-amino-2,6 Dihydroxypyrimidine
  • 4-(1-D-ribitylamino)-5-amino-2,6-Dihydroxypyrimidine
  • 4-(1-D-ribitylamino)-5-Aminouracil
Beta-D-Fructose 2-phosphate
  • 2-O-phosphono-beta-D-Fructofuranose
  • 2-phospho-beta-D-Fructofuranose
  • 2-O-phosphono-b-D-Fructofuranose
  • 2-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 2-phosphate
L-Sorbose
  • D-lyxo-2-Hexulose
  • D-lyxo-Hex-2-ulose
  • D-Tag
  • lyxo-2-Hexulose
  • lyxo-Hexulose
53188-23-1, 87-79-6
N1-(5-Phospho-a-D-ribosyl)-5,6-dimethylbenzimidazole
  • 5,6-Dimethyl-1-alpha-D-ribofuranosylbenzimidazole 5'-phosphate
  • alpha-Ribazole-5'-P
  • ALPHA-RIBAZOLE-5'-phosphATE
  • N1-(5-phospho-alpha-D-Ribosyl)-5,6-dimethylbenzimidazole
  • N(1)-(5-Phosphoribosyl)-5,6-dimethylbenzimidazole
genes like me logo Genes that share compounds with PHPT1: view

Transcripts for PHPT1 Gene

mRNA/cDNA for PHPT1 Gene

5 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
6 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 PHPT1

Alternative Splicing Database (ASD) splice patterns (SP) for PHPT1 Gene

No ASD Table

Relevant External Links for PHPT1 Gene

GeneLoc Exon Structure for
PHPT1

Expression for PHPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHPT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHPT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHPT1 Gene



Protein tissue co-expression partners for PHPT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHPT1

SOURCE GeneReport for Unigene cluster for PHPT1 Gene:

Hs.409834

mRNA Expression by UniProt/SwissProt for PHPT1 Gene:

Q9NRX4-PHP14_HUMAN
Tissue specificity: Expressed abundantly in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for PHPT1 Gene

  • Nervous system(4.7)
  • Lung(4.4)
  • Adrenal gland(4.3)
  • Muscle(3.3)
  • Skin(2.9)
  • Heart(2.6)
  • Kidney(2.5)
  • Pancreas(2.3)
  • Liver(2.2)
  • Intestine(2.2)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with PHPT1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHPT1 Gene

Orthologs for PHPT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHPT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PHPT1 31
  • 100 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PHPT1 30 31
  • 85.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Phpt1 30 17 31
  • 83.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Phpt1 30
  • 82.51 (n)
Dog
(Canis familiaris)
Mammalia PHPT1 30 31
  • 82.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PHPT1 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PHPT1 30 31
  • 71.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PHPT1 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia phpt1 30
  • 69.7 (n)
Str.20291 30
Zebrafish
(Danio rerio)
Actinopterygii phpt1 30 31
  • 63.33 (n)
OneToOne
wufb50e08 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002078 30
  • 57.99 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta janA 30 31
  • 52.1 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea phip-1 30 31
  • 52.05 (n)
OneToOne
Species where no ortholog for PHPT1 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for PHPT1 Gene

ENSEMBL:
Gene Tree for PHPT1 (if available)
TreeFam:
Gene Tree for PHPT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHPT1: view image

Paralogs for PHPT1 Gene

(1) SIMAP similar genes for PHPT1 Gene using alignment to 1 proteins:

  • PHP14_HUMAN
genes like me logo Genes that share paralogs with PHPT1: view

No data available for Paralogs for PHPT1 Gene

Variants for PHPT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHPT1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
711030 Benign: not provided 136,849,438(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
777838 Likely Benign: not provided 136,849,547(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for PHPT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PHPT1 Gene

Variant ID Type Subtype PubMed ID
esv2422220 CNV deletion 17116639
esv2759720 CNV loss 17122850
esv29973 CNV loss 17803354
esv3622017 CNV gain 21293372
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv615985 CNV loss 21841781
nsv818738 CNV gain 17921354
nsv8582 CNV gain 18304495
nsv951205 CNV deletion 24416366

Variation tolerance for PHPT1 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHPT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHPT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHPT1 Gene

Disorders for PHPT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHPT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinohepatoendocrinologic syndrome
  • rhe syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PHPT1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PHPT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHPT1 Gene

Publications for PHPT1 Gene

  1. Phosphohistidine phosphatase 1 (PHPT1) also dephosphorylates phospholysine of chemically phosphorylated histone H1 and polylysine. (PMID: 25574816) Ek P … Zetterqvist Ö (Upsala journal of medical sciences 2015) 3 4
  2. 14-kDa phosphohistidine phosphatase and its role in human lung cancer cell migration and invasion. (PMID: 19344975) Xu A … He D (Lung cancer (Amsterdam, Netherlands) 2010) 3 23
  3. Solution structure and catalytic mechanism of human protein histidine phosphatase 1. (PMID: 18991813) Gong W … Xia B (The Biochemical journal 2009) 3 4
  4. First structure of a eukaryotic phosphohistidine phosphatase. (PMID: 16990267) Busam RD … Hallberg BM (The Journal of biological chemistry 2006) 4 23
  5. Mutational study of human phosphohistidine phosphatase: effect on enzymatic activity. (PMID: 16219293) Ma R … Li JP (Biochemical and biophysical research communications 2005) 3 4

Products for PHPT1 Gene

Sources for PHPT1 Gene