1. Gene
  2. PTPN6 - protein tyrosine phosphatase non-receptor type 6 Gene

PTPN6 - protein tyrosine phosphatase non-receptor type 6 Gene

中文名称:蛋白酪氨酸磷酸酶非受体 6 型

种属: Homo sapiens

同用名: HCP; HCPH; SHP1; SHP-1; HPTP1C; PTP-1C; SHP-1L; SH-PTP1

基因 ID: 5777 | 基因类型: protein coding

关于 PTPN6

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,946,577-6,961,316 (from NCBI)

This gene has 23 transcripts (splice variants), 198 orthologues, 35 paralogues and is associated with 61 phenotypes. Broad expression in spleen (RPKM 76.2), lymph node (RPKM 74.9) and 19 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 的 N 端部分包含两个串联 Src 同系物 (SH2) 结构域,它们充当蛋白质磷酸-酪氨酸结合结构域,并介导该 PTP 与其底物的相互作用。该 PTP 主要在造血细胞中表达,在造血细胞中作为多种信号通路的重要调节剂发挥作用。已证明该 PTP 与参与造血细胞信号转导的多种磷酸化蛋白相互作用并使其去磷酸化。已经报道了该基因的多个选择性剪接变体,它们编码不同的同种型。[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. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]

PTPN6 基因产物(3)

mRNA Protein Name
NM_002831.6 NP_002822.2 tyrosine-protein phosphatase non-receptor type 6 isoform 1
NM_080548.5 NP_536858.1 tyrosine-protein phosphatase non-receptor type 6 isoform 2
NM_080549.4 NP_536859.1 tyrosine-protein phosphatase non-receptor type 6 isoform 3

PTPN6 蛋白结构

SH2

SH2: SH2 domain (4 - 79)

SH2

SH2: SH2 domain (110 - 194)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (270 - 513)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 595 a.a.
蛋白主名 其他名称

tyrosine-protein phosphatase non-receptor type 6

hematopoietic cell phosphatase

重组 PTPN6 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71141 SHP-1 Protein, Human (His) AAH02523.1 (K243-I541) ≥95%

关联疾病

疾病名称 别名
Polycythemia

Erythrocythemia

Polycythemia Vera

Polycythaemia Due To High Altitude

Polycythemia Vera

PV

Polycythemia Rubra Vera

Prv

Osler-Vaquez Disease

Chronic Erythremia

Polycythaemia Rubra Vera

Primary Polycythemia

Vaquez Disease

Polycythemia Vera, Somatic

Osler-Vaquez Syndrome

Proliferative Polycythaemia

Polycythemia Ruba Vera

Acquired Primary Erythrocytosis

Heilmeyer-Schoner Disease

Vaquez Osler Disease

Primary Polycythaemia

Neutrophilic Dermatosis, Acute Febrile

Sweet Syndrome

Acute Febrile Neutrophilic Dermatosis

Ss

AFND

Pyrin-Associated Autoinflammatory Disease

PAAND

Gomm-Button Disease

Sweet'S Syndrome

Gomm Button Disease

Sweets Syndrome

Acromelic Frontonasal Dysostosis

Sweet Disease

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Erythrocytosis, Familial, 1

ECYT1

Pfcp

Primary Familial And Congenital Polycythemia

Familial Erythrocytosis 1

Familial Erythrocytosis

Polycythemia, Primary Familial And Congenital

Autosomal Dominant Benign Erythrocytosis

Familial Erythrocytosis Type 1

Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation

Congenital Polycythemia Due To Erythropoietin Receptor Mutation

Primary Congenital Erythrocytosis

Primary Familial Polycythemia

Erythrocytosis, Autosomal Dominant Benign

Erythrocytosis, Somatic

Autosomal Dominant Familial Erythrocytosis-1

Erythrocytosis Autosomal Dominant Benign

Familial Primary Polycythemia

Familial Erythrocytosis, 1

Erythrocytosis, Familial, Type 1

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

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 PTPN6 VGNC VGNC:69166
Rattus norvegicus PTPN6 RGD RGD:620660
Mus musculus PTPN6 MGD MGI:96055
Macaca mulatta PTPN6 VGNC VGNC:76607
Bos taurus PTPN6 VGNC VGNC:33541
Canis familiaris PTPN6 VGNC VGNC:45179
Others PTPN6 NCBI