1. Gene
  2. ENPP7 - ectonucleotide pyrophosphatase/phosphodiesterase 7 Gene

ENPP7 - ectonucleotide pyrophosphatase/phosphodiesterase 7 Gene

中文名称:外核苷酸焦磷酸酶/磷酸二酯酶 7

种属: Homo sapiens

同用名: NPP7; NPP-7; E-NPP 7; ALK-SMase

基因 ID: 339221 | 基因类型: protein coding

关于 ENPP7

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:79,730,943-79,742,219 (from NCBI)

This gene has 2 transcripts (splice variants), 273 orthologues and 6 paralogues. Biased expression in small intestine (RPKM 36.1), duodenum (RPKM 15.1) and 1 other tissue.

功能概要

该基因编码的蛋白质是一种肠道碱性鞘磷脂磷酸二酯酶,可将鞘磷脂转化为神经酰胺和磷酸胆碱。编码的蛋白质锚定在细胞膜上,它可能起到保护肠粘膜免受炎症和肿瘤发生的作用。这种蛋白质是糖基化的,还表现出溶血磷脂酰胆碱水解酶活性。[RefSeq 提供,2016 年 10 月]

The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]

ENPP7 基因产物(1)

mRNA Protein Name
NM_178543.5 NP_848638.3 ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphoric diester hydrolase activity IDA
IDA: 通过直接分析推断
16255717 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sphingomyelin phosphodiesterase activity IDA
IDA: 通过直接分析推断
12671034 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
28292932 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA replication IDA
IDA: 通过直接分析推断
12671034 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
12671034 GOA
involved in sphingomyelin metabolic process IDA
IDA: 通过直接分析推断
12671034 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
12671034 GOA
located in microvillus IDA
IDA: 通过直接分析推断
12671034 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15205117 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

ENPP7 蛋白结构

Phosphodiest

Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (33 - 356)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 458 a.a.
蛋白主名 其他名称

ectonucleotide pyrophosphatase/phosphodiesterase family member 7

alkaline sphingomyelin phosphodiesterase

重组 ENPP7 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77358 ENPP-7 Protein, Human (HEK293, His) Q6UWV6 (A22-S439) ≥95%

关联疾病

疾病名称 别名
Familial Adenomatous Polyposis

Adenomatous Polyposis Coli

Fap

Familial Polyposis Coli

Familial Multiple Polyposis Syndrome

Adenomatous Polyposis Of The Colon

Familial Intestinal Polyposis

Fpc

Familial Adenomatous Polyposis Of The Colon

Familial Multiple Polyposis

Familial Polyposis Of The Colon

Hereditary Polyposis Coli

Polyposis, Adenomatous Intestinal

Adenomatous Familial Polyposis

Adenomatous Familial Polyposis Syndrome

Myh-Associated Polyposis

Colorectal Adenomatous Polyposis

Adenomatous Polyposis, Familial

Mutyh-Associate Polyposis

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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
Felis catus ENPP7 VGNC VGNC:82476
Bos taurus ENPP7 VGNC VGNC:55820
Mus musculus ENPP7 MGD MGI:3027917
Canis familiaris ENPP7 VGNC VGNC:40378
Rattus norvegicus ENPP7 RGD RGD:1359324
Macaca mulatta ENPP7 VGNC VGNC:72090