PHOSPHO1 (phosphoethanolamine/phosphocholine phosphatase 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 162466
• Gene name: Phosphoethanolamine/phosphocholine phosphatase 1
• Gene symbol: PHOSPHO1
• Synonyms (NCBI Gene): -
• Chromosome: 17
• Chromosome location: 17q21.32

miRNA Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1232340	hsa-miR-3184	CLIP-seq
MIRT1232341	hsa-miR-3940-5p	CLIP-seq
MIRT1232342	hsa-miR-423-5p	CLIP-seq
MIRT1232343	hsa-miR-4507	CLIP-seq
MIRT1232344	hsa-miR-4779	CLIP-seq
MIRT1232345	hsa-miR-629	CLIP-seq
MIRT1232346	hsa-miR-639	CLIP-seq
MIRT2295568	hsa-miR-4313	CLIP-seq

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001958	Process	Endochondral ossification	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005829	Component	Cytosol	TAS
GO:0016462	Function	Pyrophosphatase activity	IDA	19874193
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IBA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030282	Process	Bone mineralization	ISS
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0035630	Process	Bone mineralization involved in bone maturation	IBA
GO:0035630	Process	Bone mineralization involved in bone maturation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0052731	Function	Phosphocholine phosphatase activity	IDA	15175005
GO:0052731	Function	Phosphocholine phosphatase activity	IEA
GO:0052732	Function	Phosphoethanolamine phosphatase activity	IDA	15175005
GO:0052732	Function	Phosphoethanolamine phosphatase activity	IEA
GO:0065010	Component	Extracellular membrane-bounded organelle	IEA
GO:0065010	Component	Extracellular membrane-bounded organelle	ISS

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8TCT1
• Protein name: Phosphoethanolamine/phosphocholine phosphatase (EC 3.1.3.75)
• Protein function: Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho) (PubMed:15175005). Involved in the generation of inorganic phosphate for bone mineralization (By similarity). Acts in a non-redundant manner with PHO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06888	Put_Phosphatase	27 → 264	Putative Phosphatase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at sites of mineralization in bone and cartilage. Highly expressed in osteoblast cell line SaOS-2 which produces a mineralized matrix, but not in MG-63 cell line, which do not mineralize. {ECO:0000269|PubMed:15050893}.
• Sequence:

  MSGCFPVSGLRCLSRDGRMAAQGAPRFLLTFDFDETIVDENSDDSIVRAAPGQRLPESLR
  ATYREGFYNEYMQRVFKYLGEQGVRPRDLSAIYEAIPLSPGMSDLLQFVAKQGACFEVIL
  ISDANTFGVESSLRAAGHHSLFRRILSNPSGPDARGLLALRPFHTHSCARCPANMCKHKV
  LSDYLRERAHDGVHFERLFYVGDGANDFCPMGLLAGGDVAFPRRGYPMHRLIQEAQKAEP
  SSFRASVVPWETAADVRLHLQQVLKSC

• Sequence length: 267

Pathways

KEGG Pathway	Reactome Pathway
Glycerophospholipid metabolism	Synthesis of PC
Metabolic pathways	Synthesis of PE

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BONE DISEASES, METABOLIC	—	CTD	26773408	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC BONE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (12)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Rickets	Rickets	BEFREE	28737011		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35943680	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26095709, 27148772	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26095709	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27148772	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26095709, 27148772, 30564199		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	40591616	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	26095709	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	CTD_human_DG	26773408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomalacia	Osteomalacia	BEFREE	28737011		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CTD_human_DG	26773408		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37862918	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SLC20A1 2 shared diseasesBone disease, Metabolic bone disorder 2 shared evidence sourcesCTD (Bone disease), Disgenet (Metabolic bone disorder) Related via 2 shared diseases including Bone disease, Metabolic bone disorder — evidence mostly CTD. CHKA 3 shared pathwaysGlycerophospholipid metabolism, Synthesis of PC, Synthesis of PE Related via 3 shared pathways including Glycerophospholipid metabolism, Synthesis of PC. CHKB 3 shared pathwaysGlycerophospholipid metabolism, Synthesis of PC, Synthesis of PE Related via 3 shared pathways including Glycerophospholipid metabolism, Synthesis of PC. CYP27A1 2 shared diseasesBone disease, Metabolic bone disorder 2 shared evidence sourcesCTD (Bone disease), Disgenet (Metabolic bone disorder) Related via 2 shared diseases including Bone disease, Metabolic bone disorder — evidence mostly CTD. CTC1 2 shared diseasesBone disease, Metabolic bone disorder 2 shared evidence sourcesCTD (Bone disease), Disgenet (Metabolic bone disorder) Related via 2 shared diseases including Bone disease, Metabolic bone disorder — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SLC20A1	2	["Bone disease","Metabolic bone disorder"]	0	[]	2	["CTD (Bone disease)","Disgenet (Metabolic bone disorder)"]
CHKA	0	[]	3	["Glycerophospholipid metabolism","Synthesis of PC","Synthesis of PE"]	0	[]
CHKB	0	[]	3	["Glycerophospholipid metabolism","Synthesis of PC","Synthesis of PE"]	0	[]
CYP27A1	2	["Bone disease","Metabolic bone disorder"]	0	[]	2	["CTD (Bone disease)","Disgenet (Metabolic bone disorder)"]
CTC1	2	["Bone disease","Metabolic bone disorder"]	0	[]	2	["CTD (Bone disease)","Disgenet (Metabolic bone disorder)"]

Diseases Linked via Similar Genes

Intellectual developmental disorder Linked via 2 of 5 related genesCHKB, CYP27A1 Aortic valve disease Linked via 1 of 5 related genesSLC20A1 Endometriosis Linked via 1 of 5 related genesSLC20A1 Nonsyndromic intellectual disability Linked via 1 of 5 related genesCHKA Color vision deficiency Linked via 1 of 5 related genesCHKA

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Intellectual developmental disorder	2	["CHKB","CYP27A1"]
Aortic valve disease	1	["SLC20A1"]
Endometriosis	1	["SLC20A1"]
Nonsyndromic intellectual disability	1	["CHKA"]
Color vision deficiency	1	["CHKA"]