1. Gene
  2. PTPN14 - protein tyrosine phosphatase non-receptor type 14 Gene

PTPN14 - protein tyrosine phosphatase non-receptor type 14 Gene

中文名称:14 型蛋白酪氨酸磷酸酶非受体

种属: Homo sapiens

同用名: PEZ; PTP36; PTPD2; CATLPH

基因 ID: 5784 | 基因类型: protein coding

关于 PTPN14

Cytogenetic location: 1q32.3-q41 Genomic coordinates (GRCh38): 1:214,348,700-214,551,602 (from NCBI)

This gene has 5 transcripts (splice variants), 217 orthologues, 35 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 9.0), kidney (RPKM 5.5) and 23 other tissues.

功能概要

该基因编码的蛋白质是蛋白酪氨酸磷酸酶 (PTP) 家族的成员。已知 PTP 是调节多种细胞过程的信号分子,包括细胞生长、分化、有丝分裂周期和致癌转化。此 PTP 包含一个类似于带 4.1 超家族细胞骨架相关蛋白的 N 末端非催化结构域,这表明该蛋白质位于膜或细胞骨架中。它似乎可以调节哺乳动物的淋巴发育,并且在患有淋巴水肿-后鼻孔闭锁的亲属中发现了功能丧失突变。[RefSeq 提供,2010 年 9 月]

The protein encoded by this gene is a member of the protein tyrosine Phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or Cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

PTPN14 基因产物(1)

mRNA Protein Name
NM_005401.5 NP_005392.2 tyrosine-protein phosphatase non-receptor type 14
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 protein binding IPI
IPI: 通过物理相互作用推断
22525271 GOA
enables protein tyrosine phosphatase activity IMP
IMP: 通过突变表型推断
22525271 GOA
enables receptor tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
20826270 GOA
enables transcription coregulator activity IMP
IMP: 通过突变表型推断
22525271 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lymphangiogenesis IMP
IMP: 通过突变表型推断
20826270 GOA
involved in negative regulation of cell population proliferation IMP
IMP: 通过突变表型推断
22948661 GOA
involved in regulation of protein export from nucleus IDA
IDA: 通过直接分析推断
22948661 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10934049 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10934049 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

PTPN14 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (25 - 103)

FERM_M

FERM_M: FERM central domain (109 - 220)

FERM_C

FERM_C: FERM C-terminal PH-like domain (224 - 306)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (933 - 1178)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1187 a.a.
蛋白主名 其他名称

tyrosine-protein phosphatase non-receptor type 14

cytoskeletal-associated protein tyrosine phosphatase

PTPN14 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra PTPN14 Q15678 YAP1 Homo sapiens P46937
Anti Tag CoIP
33961781
Intra PTPN14 Q15678 YAP1 Homo sapiens P46937
ITC
25283809
Intra PTPN14 Q15678 AMOT Homo sapiens A2BDD9
Y2H Prey Pooling
32296183
Intra PTPN14 Q15678 AMOT Homo sapiens A2BDD9
Y2H Array
32296183
Intra PTPN14 Q15678 TRIP6 Homo sapiens Q15654
Y2H Prey Pooling
32296183
Intra PTPN14 Q15678 TRIP6 Homo sapiens Q15654
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Choanal Atresia And Lymphedema

Lymphedema-Posterior Choanal Atresia Syndrome

CATLPH

Atresia, Choanal, And Lymphedema

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Leopard Syndrome 2

LPRD2

Noonan Syndrome With Multiple Lentigines 2

Leopard Syndrome, Type 2

Metatypical Basal Cell Carcinoma

Skin Metatypical Carcinoma

Basosquamous Carcinoma Of Skin

Skin Metatypical Basal Cell Carcinoma

Noonan Syndrome 5

NS5

Noonan Syndrome, Type 5

Noonan Syndrome 3

NS3

Noonan Syndrome, Type 3

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 PTPN14 MGD MGI:102467
Bos taurus PTPN14 VGNC VGNC:33532
Canis familiaris PTPN14 VGNC VGNC:45171
Rattus norvegicus PTPN14 RGD RGD:1307885
Macaca mulatta PTPN14 VGNC VGNC:76600
Felis catus PTPN14 VGNC VGNC:69161