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Aliases for PHPT1 Gene

Aliases for PHPT1 Gene

  • Phosphohistidine Phosphatase 1 2 3 4 5
  • Sex-Regulated Protein Janus-A 2 3
  • Protein Histidine Phosphatase 3 4
  • Protein Janus-A Homolog 3 4
  • PHP14 3 4
  • PHP 3 4
  • Epididymis Secretory Sperm Binding Protein Li 132P 3
  • 14 KDa Phosphohistidine Phosphatase 3
  • Phosphohistidine Phosphatase 14kDa 2
  • HEL-S-132P 3
  • EC 3.9.1.3 4
  • EC 3.1.3 61
  • CGI-202 3
  • HSPC141 3

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. GO annotations related to this gene include ion channel binding and calcium channel inhibitor activity.

UniProtKB/Swiss-Prot for PHPT1 Gene

  • Exhibits phosphohistidine phosphatase activity.

Gene Wiki entry for PHPT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHPT1 Gene

Genomics for PHPT1 Gene

Regulatory Elements for PHPT1 Gene

Enhancers for PHPT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F136881 0.2 ENCODE 23.3 +33.9 33939 2.7 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 GLIS2 ELK1 PHPT1 MAMDC4 C9orf172 TMEM141 LCN12 PRR31 C8G FBXW5 RABL6 C9orf139
GH09F136884 0.7 ENCODE 21.7 +37.6 37551 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF207 ZNF143 FOS CEBPZ PHPT1 SNHG7 MAMDC4 C9orf172 C8G FBXW5 LCN12 TMEM141 PRR31 CCDC183-AS1
GH09F136821 0.8 ENCODE 12.2 -27.0 -26971 0.2 KDM6A CCDC183 C9orf172 MAMDC4 PHPT1 LCN12 C8G FBXW5 MIR4292 NCLP1
GH09F136822 0.4 ENCODE 12.2 -27.1 -27131 0.0 RING1 DPH7 ARRDC1-AS1 CCDC183 C9orf172 MAMDC4 PHPT1 SNAPC4 LCN12 C8G FBXW5
GH09F136823 0.6 ENCODE 12.2 -26.7 -26741 0.2 KDM6A CCDC183 C9orf172 MAMDC4 PHPT1 LCN12 C8G FBXW5 MIR4292 NCLP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PHPT1 on UCSC Golden Path with GeneCards custom track

Promoters for PHPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001317788 -124 3201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS

Genomic Location for PHPT1 Gene

Chromosome:
9
Start:
136,848,724 bp from pter
End:
136,851,043 bp from pter
Size:
2,320 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 Lys 59
  • Modification sites at PhosphoSitePlus

Other Protein References for PHPT1 Gene

Antibody Products

  • Abcam antibodies for PHPT1
  • Cloud-Clone Corp. Antibodies for PHPT1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PHPT1

Domains & Families for PHPT1 Gene

Gene Families for PHPT1 Gene

Protein Domains for PHPT1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PHPT1 Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
A [protein]-N-phospho-L-histidine + H(2)O = a [protein]-L-histidine + phosphate.
UniProtKB/Swiss-Prot Function:
Exhibits phosphohistidine phosphatase activity.

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:0008969 phosphohistidine phosphatase activity IMP 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:

Animal Model Products

miRNA for PHPT1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for PHPT1 Gene COMPARTMENTS Subcellular localization image for PHPT1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
cytoskeleton 1

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 IDA 19056867
genes like me logo Genes that share ontologies with PHPT1: view

Pathways & Interactions for PHPT1 Gene

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 IDA 20501872
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA --
GO:0035971 peptidyl-histidine dephosphorylation 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

(4) 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, Vet_approved Nutra 98,98
NAD Pharma Full agonist, Agonist 0

(10) 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
  • beta-D-Fructofuranose 2-phosphate
  • beta-D-Fructose 2-phosphate
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
N1-(5-Phospho-a-D-ribosyl)-5,6-dimethylbenzimidazole
  • alpha-Ribazole 5'-phosphate
  • alpha-Ribazole-5'-P
  • alpha-Ribazole-5'-PO4
  • N1-(5-Phospho-alpha-D-ribosyl)-5,6-dimethylbenzimidazole
  • N1-(5-Phospho-alpha-delta-ribosyl)-5,6-dimethylbenzimidazole
genes like me logo Genes that share compounds with PHPT1: view

Transcripts for PHPT1 Gene

Unigene Clusters for PHPT1 Gene

Phosphohistidine phosphatase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PHPT1 Gene

GeneLoc Exon Structure for
PHPT1
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for PHPT1 Gene



Protein tissue co-expression partners for PHPT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHPT1 Gene:

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.
genes like me logo Genes that share expression patterns with PHPT1: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PHPT1 34 35
  • 85.07 (n)
mouse
(Mus musculus)
Mammalia Phpt1 34 16 35
  • 83.61 (n)
rat
(Rattus norvegicus)
Mammalia Phpt1 34
  • 82.51 (n)
dog
(Canis familiaris)
Mammalia PHPT1 34 35
  • 82.13 (n)
oppossum
(Monodelphis domestica)
Mammalia PHPT1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHPT1 34 35
  • 71.31 (n)
lizard
(Anolis carolinensis)
Reptilia PHPT1 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phpt1 34
  • 69.7 (n)
Str.20291 34
zebrafish
(Danio rerio)
Actinopterygii phpt1 34 35
  • 63.33 (n)
wufb50e08 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002078 34
  • 57.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta janA 34 35
  • 52.1 (n)
worm
(Caenorhabditis elegans)
Secernentea phip-1 34 35
  • 52.05 (n)
Species where no ortholog for PHPT1 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Paralogs for PHPT1 Gene

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

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 from dbSNP and Humsavar for PHPT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10123474 -- 136,847,704(+) CGGGG(A/T)GGGCC downstream-variant-500B, upstream-variant-2KB
rs1045907 -- 136,850,970(+) TGTCC(A/C)CCAGG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs111547165 -- 136,850,998(+) CCTGG(C/T)CACAG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs111718739 -- 136,848,940(+) GGAGA(-/GCGAGGCCTTCGGGCGGTG)GAGAG nc-transcript-variant, utr-variant-5-prime
rs111789430 -- 136,847,785(+) TCCCC(G/T)TCGGT downstream-variant-500B, upstream-variant-2KB

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)

Relevant External Links for PHPT1 Gene

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

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

Disorders for PHPT1 Gene

Relevant External Links for PHPT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHPT1

No disorders were found for PHPT1 Gene.

No data available for MalaCards , 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 A.9. (Ups. J. Med. Sci. 2015) 3 4 64
  2. 14-kDa phosphohistidine phosphatase and its role in human lung cancer cell migration and invasion. (PMID: 19344975) Xu A. … He D. (Lung Cancer 2010) 3 22 64
  3. Solution structure and catalytic mechanism of human protein histidine phosphatase 1. (PMID: 18991813) Gong W. … Xia B. (Biochem. J. 2009) 3 4 64
  4. First structure of a eukaryotic phosphohistidine phosphatase. (PMID: 16990267) Busam R.D. … Hallberg B.M. (J. Biol. Chem. 2006) 4 22 64
  5. Mutational study of human phosphohistidine phosphatase: effect on enzymatic activity. (PMID: 16219293) Ma R. … Li J.-P. (Biochem. Biophys. Res. Commun. 2005) 3 4 64

Products for PHPT1 Gene

Sources for PHPT1 Gene

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