PHPT1: 14 kDa Phosphohistidine Phosphatase
A key regulator of histidine phosphorylation in cellular signaling and metabolism.
Gene Information Card
| Symbol | PHPT1 |
|---|---|
| Full Name | Phosphohistidine Phosphatase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 29085 ncbi.nlm.nih.gov/gene/29085 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q9NRX4 |
| OMIM ID | 617649 |
| HGNC ID | 30125 |
| Aliases | PHP14, HSPC141, CGI-202 |
Description
PHPT1 (phosphohistidine phosphatase 1) encodes a 14 kDa protein that specifically dephosphorylates phosphohistidine residues. It is the only known mammalian enzyme with this activity, playing a critical role in reversing histidine phosphorylation, a post-translational modification involved in signal transduction, cell cycle regulation, and metabolism. The enzyme is widely expressed and interacts with proteins such as annexin A1 and ATP-citrate lyase.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PHPT1 expression may affect histidine phosphorylation dynamics, influencing cell proliferation and migration. | COSMIC; literature (PMID: 25605274) |
| Metabolic disorders | PHPT1 dephosphorylates ATP-citrate lyase, potentially modulating lipid and energy metabolism. | UniProt; literature (PMID: 23395172) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK 293 | 13.8 | Embryonic kidney cells |
| K562 | 11.5 | Leukemia cell line |
| A549 | 10.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; effect unknown |
| c.152C>T (p.Thr51Ile) | Missense | Rare | Substitution in conserved region; functional impact uncertain |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Histidine phosphorylation/dephosphorylation signaling
• ATP-citrate lyase regulation
Protein Summary
PHPT1 is a 14 kDa protein (125 amino acids) that specifically hydrolyzes phosphohistidine residues. It belongs to the phosphohistidine phosphatase family and is the only known mammalian enzyme dedicated to this function. The protein is ubiquitously expressed and localizes to both cytoplasm and nucleus. It regulates the activity of several substrates, including annexin A1 and ATP-citrate lyase, thereby influencing cell signaling and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHPT1 Knockout HEK293 Cell Line | EDJ-KQ51232 | Human | 29085 | Details Get a Quote |
| PHPT1 Knockout HeLa Cell Line | EDJ-KQ56092 | Human | 29085 | Details Get a Quote |
| PHPT1 Knockout A-549 Cell Line | EDJ-KQ64578 | Human | 29085 | Details Get a Quote |
| PHPT1 Knockout HCT 116 Cell Line | EDJ-KQ73032 | Human | 29085 | Details Get a Quote |
