PTPN23 - protein tyrosine phosphatase non-receptor type 23 Gene

中文名称：23 型蛋白酪氨酸磷酸酶非受体

种属: Homo sapiens

同用名: HDPTP; HD-PTP; NEDBASS; PTP-TD14

基因 ID: 25930 | 基因类型: protein coding

关于 PTPN23

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:47,381,021-47,413,435 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues, 35 paralogues and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 10.2), brain (RPKM 9.8) and 25 other tissues.

功能概要

该基因编码非受体型蛋白酪氨酸磷酸酶家族的成员。编码的蛋白质可能通过修饰存活运动神经元 (SMN) 复合体参与调节小核核糖核蛋白组装和 pre-mRNA 剪接。编码的蛋白质还在纤毛发生中发挥作用，并且是运输 (ESCRT) 通路所需的内体分选复合体的一部分。该基因可能具有肿瘤抑制功能。[RefSeq 提供，2016 年 7 月]

This gene encodes a member of the non-receptor type protein-tyrosine Phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]

PTPN23 基因产物(2)

mRNA	Protein	Name
NM_001304482.2	NP_001291411.1	tyrosine-protein phosphatase non-receptor type 23 isoform 2
NM_015466.4	NP_056281.1	tyrosine-protein phosphatase non-receptor type 23 isoform 1

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	17174262	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	21724833	GOA
enables protein tyrosine phosphatase activity	IMP IMP: 通过突变表型推断	21724833	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cilium assembly	IMP IMP: 通过突变表型推断	20393563	GOA
involved in early endosome to late endosome transport	IMP IMP: 通过突变表型推断	24821423	GOA
involved in endocytic recycling	IMP IMP: 通过突变表型推断	24821423	GOA
involved in negative regulation of epithelial cell migration	IMP IMP: 通过突变表型推断	21724833	GOA
involved in positive regulation of Wnt protein secretion	IMP IMP: 通过突变表型推断	24821423	GOA
involved in positive regulation of adherens junction organization	IMP IMP: 通过突变表型推断	21724833	GOA
involved in positive regulation of early endosome to late endosome transport	IMP IMP: 通过突变表型推断	21724833	GOA
involved in positive regulation of homophilic cell adhesion	IMP IMP: 通过突变表型推断	21724833	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP IMP: 通过突变表型推断	21757351	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in ciliary basal body	IDA IDA: 通过直接分析推断	20393563	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	21179510	GOA
located in early endosome	IDA IDA: 通过直接分析推断	21757351	GOA
located in endosome	IDA IDA: 通过直接分析推断	21179510	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21179510	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

PTPN23 蛋白结构

BRO1

ALIX_LYPXL_bnd

Y_phosphatase

0
300
600
900
1200
1500
1636 a.a.

蛋白主名

其他名称

tyrosine-protein phosphatase non-receptor type 23

his domain-containing protein tyrosine phosphatase

PTPN23 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	PTPN23	Q9H3S7	PSMA3	Homo sapiens	P25788	Validated Y2H	25416956
Intra	PTPN23	Q9H3S7	PDCD6	Homo sapiens	O75340	Y2H	17174262
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Protein Kinase Assay	18835089
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Pull Down	18835089
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Anti Bait CoIP	18835089
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Fluorescence	18835089
Intra	PTPN23	Q9H3S7	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	PTPN23	Q9H3S7	GRAP2	Homo sapiens	O75791	Pull Down	21179510
Intra	PTPN23	Q9H3S7	GRAP2	Homo sapiens	O75791	Anti Bait CoIP	21179510
Intra	PTPN23	Q9H3S7	GRAP2	Homo sapiens	O75791	Y2H	21179510
Intra	PTPN23	Q9H3S7	CEP55	Homo sapiens	Q53EZ4	Validated Y2H	25416956
Intra	PTPN23	Q9H3S7	CEP55	Homo sapiens	Q53EZ4	Y2H Array	25416956
Intra	PTPN23	Q9H3S7	CHMP4B	Homo sapiens	Q9H444	Anti Tag CoIP	17174262
Intra	PTPN23	Q9H3S7	SH3GL2	Homo sapiens	Q99962	Anti Tag CoIP	17174262
Intra	PTPN23	Q9H3S7	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	PTPN23	Q9H3S7	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	31515488

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

Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity

NEDBASS

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Toxic Diffuse Goiter

Spastic Paraplegia 80, Autosomal Dominant

SPG80	Hereditary Spastic Paraplegia 80
Spastic Paraplegia 80 Autosomal Dominant	Doid:0112341

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11425	PTPN23 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	PTPN23	VGNC	VGNC:76477
Canis familiaris	PTPN23	VGNC	VGNC:54985
Felis catus	PTPN23	VGNC	VGNC:64431
Rattus norvegicus	PTPN23	RGD	RGD:619892
Bos taurus	PTPN23	VGNC	VGNC:33537
Mus musculus	PTPN23	MGD	MGI:2144837

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