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

PHOSPHO1 - phosphoethanolamine/phosphocholine phosphatase 1 Gene

中文名称:磷酸乙醇胺/磷酸胆碱磷酸酶 1

种属: Homo sapiens

基因 ID: 162466 | 基因类型: protein coding

关于 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.

功能概要

启用焦磷酸酶活性。预测参与骨成熟的骨矿化。预测作用于软骨内骨化的上游或内部。预测位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphocholine phosphatase activity IDA
IDA: 通过直接分析推断
15175005 GOA
enables phosphoethanolamine phosphatase activity IDA
IDA: 通过直接分析推断
15175005 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables pyrophosphatase activity IDA
IDA: 通过直接分析推断
19874193 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PHOSPHO1 蛋白结构

Put_Phosphatase

Put_Phosphatase: Putative Phosphatase (28 - 263)

  • 0
  • 100
  • 200
  • 267 a.a.
蛋白主名 其他名称

phosphoethanolamine/phosphocholine phosphatase

phosphatase, orphan 1

重组 PHOSPHO1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75974 PHOSPHO1 Protein, Human (His) Q8TCT1-1 (M1-C267) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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