NFAT5 - nuclear factor of activated T cells 5 Gene

中文名称：活化 T 细胞核因子 5

种属: Homo sapiens

同用名: NFATZ; OREBP; NF-AT5; NFATL1; TONEBP

基因 ID: 10725 | 基因类型: protein coding

关于 NFAT5

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,565,966-69,704,654 (from NCBI)

This gene has 17 transcripts (splice variants), 279 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 6.6), placenta (RPKM 5.9) and 25 other tissues.

功能概要

该基因的产物是活化 T 细胞核因子转录因子家族的成员。属于该家族的蛋白质在免疫反应期间的诱导基因转录中起着核心作用。这种蛋白质调节哺乳动物细胞中渗透压诱导的基因表达。与该蛋白质家族的单体成员不同，该蛋白质以同型二聚体形式存在，并与 DNA 元件形成稳定的二聚体。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NFAT5 基因产物(7)

mRNA	Protein	Name
NM_001113178.3	NP_001106649.1	nuclear factor of activated T-cells 5 isoform d
NM_001367709.1	NP_001354638.1	nuclear factor of activated T-cells 5 isoform e
NM_006599.4	NP_006590.1	nuclear factor of activated T-cells 5 isoform c
NM_138713.4	NP_619727.2	nuclear factor of activated T-cells 5 isoform b
NM_138714.4	NP_619728.2	nuclear factor of activated T-cells 5 isoform a
NM_173214.3	NP_775321.1	nuclear factor of activated T-cells 5 isoform a
NM_173215.3	NP_775322.1	nuclear factor of activated T-cells 5 isoform a

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 DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	11485737	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	11485737	GOA
enables chromatin binding	IDA IDA: 通过直接分析推断	34049076	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20351292	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	34049076	GOA
involved in R-loop processing	IDA IDA: 通过直接分析推断	34049076	GOA
involved in cellular response to cytokine stimulus	IMP IMP: 通过突变表型推断	25515214	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IMP IMP: 通过突变表型推断	25515214	GOA
involved in positive regulation of leukocyte adhesion to vascular endothelial cell	IMP IMP: 通过突变表型推断	25515214	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	11485737	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	12370307	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

NFAT5 蛋白结构

RHD_DNA_bind

0
300
600
900
1200
1531 a.a.

蛋白主名

其他名称

nuclear factor of activated T-cells 5

NFAT-like protein 1

关联疾病

疾病名称

别名

Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome

Nfat5 Haploinsufficiency

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

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-112125A	KRN2 bromide		98.13%	否
HY-112126	KRN5		98.76%	否
HY-112125	KRN2		/	否
HY-12117	L-NIL hydrochloride	Inhibitor	/	否
HY-RS09237	NFAT5 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	NFAT5	VGNC	VGNC:75325
Mus musculus	NFAT5	MGD	MGI:1859333
Bos taurus	NFAT5	VGNC	VGNC:32029
Canis familiaris	NFAT5	VGNC	VGNC:43765
Felis catus	NFAT5	VGNC	VGNC:68468
Rattus norvegicus	NFAT5	RGD	RGD:1309142

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