2. Gene
  3. PTPRF - protein tyrosine phosphatase receptor type F Gene

PTPRF - protein tyrosine phosphatase receptor type F Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：F 型蛋白酪氨酸磷酸酶受体

种属: Homo sapiens

同用名: LAR; BNAH2

基因 ID: 5792 | 基因类型: protein coding

关于 PTPRF

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:43,522,051-43,623,666 (from NCBI)

This gene has 16 transcripts (splice variants), 277 orthologues, 35 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 56.2), skin (RPKM 52.7) and 21 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。该 PTP 具有一个胞外区、一个跨膜区和两个串联的胞质内催化结构域，因此代表受体型 PTP。细胞外区域包含三个 Ig 样结构域和九个类似于神经细胞粘附分子的非 Ig 样结构域。该 PTP 显示在调节粘附连接处的上皮细胞-细胞接触以及控制 β-连环蛋白信号传导中发挥作用。在肥胖、胰岛素抵抗个体的胰岛素反应组织中发现这种蛋白质的表达水平增加，并且可能有助于胰岛素抵抗的发病机制。已经报道了该基因的两种选择性剪接的转录物变体，它们编码不同的蛋白质。[RefSeq 提供，2008 年 7 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 possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of Insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

PTPRF 基因产物(6)

mRNA Protein Name
NM_001329137.2 NP_001316066.1 receptor-type tyrosine-protein phosphatase F isoform 3 precursor
NM_001329138.2 NP_001316067.1 receptor-type tyrosine-protein phosphatase F isoform 4 precursor
NM_001329139.2 NP_001316068.1 receptor-type tyrosine-protein phosphatase F isoform 5 precursor
NM_001329140.2 NP_001316069.1 receptor-type tyrosine-protein phosphatase F isoform 6 precursor
NM_002840.5 NP_002831.2 receptor-type tyrosine-protein phosphatase F isoform 1 precursor
NM_130440.4 NP_569707.2 receptor-type tyrosine-protein phosphatase F isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cell adhesion molecule binding IPI
IPI: 通过物理相互作用推断
23986473 GOA
enables phosphoprotein phosphatase activity IDA
IDA: 通过直接分析推断
21976490 GOA
enables protein tyrosine phosphatase activity IDA
IDA: 通过直接分析推断
10338209 GOA
enables protein tyrosine phosphatase activity IMP
IMP: 通过突变表型推断
23358419 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell migration IMP
IMP: 通过突变表型推断
23358419 GOA
involved in negative regulation of receptor binding IMP
IMP: 通过突变表型推断
23358419 GOA
involved in peptidyl-tyrosine dephosphorylation IMP
IMP: 通过突变表型推断
23358419 GOA
involved in synaptic membrane adhesion IDA
IDA: 通过直接分析推断
26321637 GOA
involved in synaptic membrane adhesion IMP
IMP: 通过突变表型推断
26321637 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

PTPRF 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (33 - 124)

I-set

I-set: Immunoglobulin I-set domain (135 - 216)

I-set

I-set: Immunoglobulin I-set domain (232 - 315)

fn3

fn3: Fibronectin type III domain (321 - 401)

fn3

fn3: Fibronectin type III domain (415 - 500)

fn3

fn3: Fibronectin type III domain (514 - 592)

fn3

fn3: Fibronectin type III domain (609 - 696)

fn3

fn3: Fibronectin type III domain (711 - 809)

fn3

fn3: Fibronectin type III domain (832 - 902)

fn3

fn3: Fibronectin type III domain (919 - 1000)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (1375 - 1606)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (1664 - 1897)

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  • 1907 a.a.
蛋白主名 其他名称

receptor-type tyrosine-protein phosphatase F

LCA-homolog

PTPRF 抗体

目录号 产品名 应用 反应物种
HY-P84047 PTPRF Antibody (YA3744) FC, ELISA Human

关联疾病

疾病名称 别名
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2

BNAH2

Aplasia Or Hypoplasia Of The Breasts And/Or Nipples 2

Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, Type 2
Isolated Congenital Breast Hypoplasia/Aplasia

Isolated Congenital Amastia
Ureterocele
Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant
Van Maldergem Syndrome 1

Cerebrofacioarticular Syndrome

VMLDS1

Van Maldergem Syndrome

Cerebro-Facio-Articular Syndrome

Van Maldergem Wetzburger Verloes Syndrome
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11438 PTPRF Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS17614 Ptprf Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24074 Ptprf Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus PTPRF VGNC VGNC:33550
Macaca mulatta PTPRF VGNC VGNC:76615
Mus musculus PTPRF MGD MGI:102695
Felis catus PTPRF VGNC VGNC:69173
Rattus norvegicus PTPRF RGD RGD:3453
Canis familiaris PTPRF VGNC VGNC:45187
Others PTPRF NCBI
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