DUSP6 - dual specificity phosphatase 6 Gene

中文名称：双特异性磷酸酶 6

种属: Homo sapiens

同用名: HH19; MKP3; PYST1

基因 ID: 1848 | 基因类型: protein coding

关于 DUSP6

Cytogenetic location: 12q21.33 Genomic coordinates (GRCh38): 12:89,347,235-89,352,501 (from NCBI)

This gene has 5 transcripts (splice variants), 209 orthologues, 30 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 46.5), fat (RPKM 44.7) and 24 other tissues.

功能概要

该基因编码的蛋白质是双特异性蛋白磷酸酶亚家族的成员。这些磷酸酶通过使磷酸丝氨酸/苏氨酸和磷酸酪氨酸残基去磷酸化来灭活它们的靶激酶。它们负向调节与细胞增殖和分化相关的丝裂原活化蛋白 (MAP) 激酶超家族成员 (MAPK/ERK、SAPK/JNK、p38) 。双特异性磷酸酶家族的不同成员对各种 MAP 激酶表现出不同的底物特异性、不同的组织分布和亚细胞定位，以及细胞外刺激表达的不同诱导模式。该基因产物使 ERK2 失活，在多种组织中表达，在心脏和胰腺中表达水平最高，并且与该家族的大多数其他成员不同，它位于细胞质中。该基因的突变与先天性低促性腺激素性腺功能减退症有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2014 年 1 月]

The protein encoded by this gene is a member of the dual specificity protein Phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

DUSP6 基因产物(2)

mRNA	Protein	Name
NM_001946.4	NP_001937.2	dual specificity protein phosphatase 6 isoform a
NM_022652.4	NP_073143.2	dual specificity protein phosphatase 6 isoform b

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 MAP kinase tyrosine/serine/threonine phosphatase activity	IDA IDA: 通过直接分析推断	8670865	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12840032	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of ERK1 and ERK2 cascade	IMP IMP: 通过突变表型推断	18771677	GOA
involved in negative regulation of MAPK cascade	IDA IDA: 通过直接分析推断	8670865	GOA
involved in peptidyl-tyrosine dephosphorylation	IDA IDA: 通过直接分析推断	8670865	GOA
involved in positive regulation of apoptotic process	IDA IDA: 通过直接分析推断	10846176	GOA
involved in response to nitrosative stress	IEP IEP: 通过表达模式推断	10846176	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	8670865	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

DUSP6 蛋白结构

Rhodanese

DSPc

0
100
200
300
381 a.a.

蛋白主名

其他名称

dual specificity protein phosphatase 6

MAP kinase phosphatase 3

DUSP6 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	DUSP6	Q16828	PHB2	Homo sapiens	Q99623	Y2H Array	32814053
Intra	DUSP6	Q16828	PHB2	Homo sapiens	Q99623	Y2H Pooling	32814053
Intra	DUSP6	Q16828	PHB2	Homo sapiens	Q99623	Validated Y2H	32814053
Intra	DUSP6	Q16828	MAPK3	Homo sapiens	P27361	Anti Tag CoIP	31980649
Intra	DUSP6	Q16828	MAPK3	Homo sapiens	P27361	Anti Tag CoIP	27880917
Intra	DUSP6	Q16828	MAPK3	Homo sapiens	P27361	CoIP	12840032
Intra	DUSP6	Q16828	MAPK1	Homo sapiens	P28482	Anti Tag CoIP	31980649
Intra	DUSP6	Q16828	MAPK1	Homo sapiens	P28482	Anti Tag CoIP	27880917

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

Hypogonadotropic Hypogonadism 19 With Or Without Anosmia

HH19	Hypogonadism, Hypogonadotropic, Type 19 With/Without Anosmia

Normosmic Congenital Hypogonadotropic Hypogonadism

Normosmic Idiopathic Hypogonadotropic Hypogonadism

Nihh

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Idiopathic Hypogonadotropic Hypogonadism	HH7
Hypogonadism, Isolated Hypogonadotropic	Ihh
Hypogonadism, Isolated, Hypogonadotropic	Hypogonadotropic Hypogonadism
Isolated Hypogonadotropic Hypogonadism	Hypogonadotropic Hypogonadism 7 Without Anosmia
Congenital Hypogonadotropic Hypogonadism Normosmic	Hh
Klinefelter Syndrome	Isolated Gonadotropin Deficiency

Congenital Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism

Klinefelter Syndrome	Klinefelter'S Syndrome
Xxy Syndrome	Xxy Trisomy
Hypogonadotropism	47, Xxy
Congenital Idiopathic Hypogonadotropic Hypogonadism	Isolated Congenital Gonadotropin Deficiency
47,Xxy Syndrome	47, Xxy Syndrome
Klinefelters Syndrome	Hypogonadism
Klinefelter Syndrome In Males	Klinefelter Syndrome, Unspecified
Klinefelter Syndrome Karyotype 47, Xxy

Hypogonadism

Endometrial Cancer

Endometrial Carcinoma	Endometrial Neoplasm
Malignant Neoplasm Of Endometrium	Endometrioid Carcinoma
Endometrial Neoplasms	Carcinoma, Endometrioid
Endometrial Cancer, Familial	Endometrial Carcinoma, Somatic
Endometrial Cancer, Susceptibility To	Endometrial Ca
Malignant Endometrial Neoplasm	Neoplasm Of Endometrium
Primary Malignant Neoplasm Of Endometrium	Tumor Of Endometrium
Carcinoma Of The Endometrium	Endometrioid Carcinoma Of Female Reproductive System
ENDMC	Carcinoma Endometrioid
Endometrial Cancers	Cancer, Endometrial
Uterine Corpus Cancer

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

Diffuse Large B-Cell Lymphoma

Dlbcl	Diffuse Large B-Cell Lymphoma, Not Otherwise Specified
Large B-Cell Diffuse Lymphoma	Lymphoma, Large B-Cell, Diffuse
Dlbcl - [Diffuse Large B-Cell Lymphoma]	Diffuse Large Beta Cell Lymphoma

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Scoliosis

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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-115502	BCI	Inhibitor	99.73%	否
HY-115502A	BCI hydrochloride	Inhibitor	99.93%	否
HY-126390	(E/Z)-BCI		/	否
HY-168012	Pan-RAS-IN-6	Inhibitor	/	否
HY-RS04067	DUSP6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	DUSP6	RGD	RGD:70978
Macaca mulatta	DUSP6	VGNC	VGNC:72013
Canis familiaris	DUSP6	VGNC	VGNC:40135
Bos taurus	DUSP6	VGNC	VGNC:28262
Mus musculus	DUSP6	MGD	MGI:1914853
Felis catus	DUSP6	VGNC	VGNC:61669

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