PHOSPHO1 - phosphoethanolamine/phosphocholine phosphatase 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 162466

About PHOSPHO1

This gene has 7 transcripts (splice variants), 265 orthologues and 1 paralogue. Biased expression in testis (RPKM 17.3), bone marrow (RPKM 8.3) and 3 other tissues.

Summary

Enables pyrophosphatase activity. Predicted to be involved in bone mineralization involved in bone maturation. Predicted to act upstream of or within endochondral ossification. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PHOSPHO1 Products (2)

mRNA Protein Name
NM_001143804.2 NP_001137276.1 phosphoethanolamine/phosphocholine phosphatase isoform 1
NM_178500.4 NP_848595.1 phosphoethanolamine/phosphocholine phosphatase isoform 2
Molecular Function GO Annotation Evidence References Source
enables phosphocholine phosphatase activity IDA
IDA: Inferred from direct assay
15175005 GOA
enables phosphoethanolamine phosphatase activity IDA
IDA: Inferred from direct assay
15175005 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables pyrophosphatase activity IDA
IDA: Inferred from direct assay
19874193 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHOSPHO1 Protein Structure

Put_Phosphatase

Put_Phosphatase: Putative Phosphatase (28 - 263)

  • 0
  • 100
  • 200
  • 267 a.a.
Protein Preferred Names Protein Names

phosphoethanolamine/phosphocholine phosphatase

  • phosphatase, orphan 1

PHOSPHO1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PHOSPHO1 Q8TCT1 ACY1 Homo sapiens Q03154 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PHOSPHO1 Proteins

Cat. No. Product Name Accession Purity
HY-P75974 PHOSPHO1 Protein, Human (His) Q8TCT1-1 (M1-C267) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Periarthritis
Hypophosphatasia, Childhood
  • Childhood Hypophosphatasia

  • Childhood-Onset Hypophosphatasia

  • HPPC

  • Childhood-Onset Phosphoethanolaminuria

  • Childhood-Onset Rathburn Disease

  • Childhood-Onset Rathbun Disease

Vitamin D-Dependent Rickets Type 2b
Hypophosphatasia
  • Phosphoethanolaminuria

  • Childhood Hypophosphatasia

  • Deficiency Of Alkaline Phosphatase

  • Hypophospatasia, Childhood

  • Hypophosphatasia Mild

  • Phosphoethanol-Aminuria

  • Rathburn Disease

  • Hpp

  • Rathbun Disease

  • Hypophosphatasia, Childhood

  • Infantile Hypophosphatasia

Arterial Calcification Of Infancy
  • Idiopathic Infantile Arterial Calcification

  • Generalized Arterial Calcification Of Infancy

  • Iiac

  • Occlusive Infantile Arteriopathy

  • Infantile Arteriosclerosis

  • Gaci

  • Idiopathic Obliterative Arteriopathy

  • Generalized Arterial Calcification In Infancy

  • Arteriopathia Calcificans Infantum

  • Diffuse Arterial Calcifying Elastopathy Of Infancy

  • Infantile Calcifying Arteriopathy

  • Medial Coronary Sclerosis Of Infancy

  • Coronary Sclerosis, Medial, Of Infancy

  • Calcification, Arterial, Generalized, Infancy

Hypophosphatasia, Adult
  • Adult Hypophosphatasia

  • Odontohypophosphatasia

  • Hypophosphatasia, Mild

  • HPPA

  • Hypophosphatasia

  • Mild Hypophosphatasia

  • Adult Rathbun Disease

  • Adult Phosphoethanolaminuria

  • HOPS

Charcot-Marie-Tooth Disease, Recessive Intermediate B
  • Charcot-Marie-Tooth Disease Recessive Intermediate B

  • CMTRIB

  • Ri-Cmtb

  • Charcot-Marie-Tooth Disease, Recessive Intermediate, B

  • Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B

  • Charcot-Marie-Tooth Neuropathy Recessive Intermediate B

  • Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B

  • Ri-Cmt Type B

  • Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B

Craniometaphyseal Dysplasia, Autosomal Dominant
  • Craniometaphyseal Dysplasia

  • CMDD

  • Cmdj

  • Cmd

  • Autosomal Dominant Craniometaphyseal Dysplasia

  • Craniometaphyseal Dysplasia, Jackson Type

  • Craniometaphyseal Dysplasia Jackson Type

  • Autosomal Recessive Craniometaphyseal Dysplasia

  • Cmdr

  • Dysplasia, Craniometaphyseal, Autosomal Dominant

  • Craniometaphyseal Dysplasia, Autosomal Recessive Type

Ankylosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus PHOSPHO1 MGD MGI:2447348
Felis catus PHOSPHO1 VGNC VGNC:64151
Bos taurus PHOSPHO1 VGNC VGNC:32842
Canis familiaris PHOSPHO1 VGNC VGNC:49702
Rattus norvegicus PHOSPHO1 RGD RGD:1306182
Macaca mulatta PHOSPHO1 VGNC VGNC:75810
Others PHOSPHO1 NCBI