1. Gene
  2. PHOSPHO1 - phosphoethanolamine/phosphocholine phosphatase 1 Gene

PHOSPHO1 - phosphoethanolamine/phosphocholine phosphatase 1 Gene

Homo sapiens
Gene ID: 162466 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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

Recombinant PHOSPHO1 Proteins

Cat. No. Product Name Accession Purity
HY-P75974 PHOSPHO1 Protein, Human (His) Q8TCT1-1 (M1-C267) ≥95%

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