PHPT1 phosphohistidine phosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PHPT1provided by HGNC
Official Full Name: phosphohistidine phosphatase 1provided by HGNC
Primary source: HGNC:HGNC:30033
See related: Ensembl:ENSG00000054148 MIM:610167; AllianceGenome:HGNC:30033
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PHP; PHP14; CGI-202; HSPC141; HEL-S-132P
Summary: 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]
Expression: Ubiquitous expression in heart (RPKM 26.6), prostate (RPKM 24.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136849409..136851024)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149083591..149085206)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139743861..139745476)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A salt bridge of the C-terminal carboxyl group regulates PHPT1 substrate affinity and catalytic activity.
Title: A salt bridge of the C-terminal carboxyl group regulates PHPT1 substrate affinity and catalytic activity.
FBXO32 targets PHPT1 for ubiquitination to regulate the growth of EGFR mutant lung cancer.
Title: FBXO32 targets PHPT1 for ubiquitination to regulate the growth of EGFR mutant lung cancer.
Our study reveals the important role of PHP14 in regulating hepatic stellate cell migration in liver fibrosis
Title: PHP14 regulates hepatic stellate cells migration in liver fibrosis via mediating TGF-β1 signaling to PI3Kγ/AKT/Rac1 pathway.
In the process of assay optimization, we discovered that PHPT1 is sensitive to a reducing environment and inhibited by transition-metal ions, with one apparent Cu(II) binding site with IC50 value of 500 +/- 20 muM and two apparent Zn(II) binding sites with IC50 values of 25 +/- 1 and 490 +/- 20 muM
Title: Facile, Fluorogenic Assay for Protein Histidine Phosphatase Activity.
High PHPT1 expression is associated with cancer.
Title: Influence of Confounding Factors on Radiation Dose Estimation Using In Vivo Validated Transcriptional Biomarkers.
H2O2 exposure induces selective oxidation of hPHPT1 at Met95, a residue within the substrate binding region. Molecular dynamics simulations suggest that if Met95 oxidation alters hPHPT1 activity, then it will do so by altering the stability of an intermediate state. Mass spectrometry showed that H2O2-induced oxidation does not impact hPHPT1 function negatively.
Title: Structural and activity characterization of human PHPT1 after oxidative modification.
PHPT1 was expressed in the epithelium of proximal tubuli and nuclei of clear-cell renal cell carcinoma tissue samples.
Title: Nuclear expression and clinical significance of phosphohistidine phosphatase 1 in clear-cell renal cell carcinoma.
PHPT1 can dephosphorylate phospholysine in chemically phosphorylated histone H1 and polylysine
Title: Phosphohistidine phosphatase 1 (PHPT1) also dephosphorylates phospholysine of chemically phosphorylated histone H1 and polylysine.
The specific degradation of the PHPT1 splice variant indicates that the quality control and the self-guarding of the cellular system works at two levels, first at the RNA level and proteasome level.
Title: A splice variant of the human phosphohistidine phosphatase 1 (PHPT1) is degraded by the proteasome.
the histidine phosphatase, protein histidine phosphatase 1, inhibits NDPK-B-activated TRPV5 in inside/out patch experiments.
Title: Regulation of the epithelial Ca²⁺ channel TRPV5 by reversible histidine phosphorylation mediated by NDPK-B and PHPT1.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Clone Names

bA216L13.10, DKFZp564M173, 1700008C22Rik, RP11-216L13.10

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein histidine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein histidine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein histidine phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lamellipodium organization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ATP citrate synthase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of lyase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-histidine dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in leading edge of lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: 14 kDa phosphohistidine phosphatase

Names: epididymis secretory sperm binding protein Li 132P; protein histidine phosphatase; protein janus-A homolog; sex-regulated protein janus-a

NP_001129333.1

EC 3.9.1.3

NP_001274271.1

EC 3.9.1.3

NP_001274272.1

EC 3.9.1.3

NP_054891.2

EC 3.9.1.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001135861.3 → NP_001129333.1 14 kDa phosphohistidine phosphatase isoform 2

Status: VALIDATED

Source sequence(s)

AL355987

Consensus CDS

CCDS48060.1

UniProtKB/Swiss-Prot

Q9NRX4

Related

ENSP00000360724.1, ENST00000371661.5

Conserved Domains (1) summary

pfam05005
Location:9 → 95

Ocnus; Janus/Ocnus family (Ocnus)
NM_001287342.2 → NP_001274271.1 14 kDa phosphohistidine phosphatase isoform 4

Status: VALIDATED

Source sequence(s)

AL355987

UniProtKB/TrEMBL

Q6FIE5

Conserved Domains (1) summary

pfam05005
Location:6 → 119

Ocnus; Janus/Ocnus family (Ocnus)
NM_001287343.2 → NP_001274272.1 14 kDa phosphohistidine phosphatase isoform 5

Status: VALIDATED

Source sequence(s)

AL355987

Related

ENST00000462205.5

Conserved Domains (1) summary

pfam05005
Location:6 → 96

Ocnus; Janus/Ocnus family (Ocnus)
NM_014172.6 → NP_054891.2 14 kDa phosphohistidine phosphatase isoform 3

See identical proteins and their annotated locations for NP_054891.2

Status: VALIDATED

Source sequence(s)

AL355987

Consensus CDS

CCDS7009.1

UniProtKB/Swiss-Prot

B1AMX0, B1AMX1, Q9H0Y3, Q9NRX4

UniProtKB/TrEMBL

Q6FIE5, V9HWC4

Related

ENSP00000247665.10, ENST00000247665.12

Conserved Domains (1) summary

pfam05005
Location:9 → 114

Ocnus; Janus/Ocnus family (Ocnus)

RNA

NR_109807.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL355987
NR_109808.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL355987

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

136849409..136851024

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

149083591..149085206

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001135860.1: Suppressed sequence

Description

NM_001135860.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.