PYHIN1 - pyrin and HIN domain family member 1 Gene

中文名称：pyrin 和 HIN 域家族成员 1

种属: Homo sapiens

同用名: IFIX

基因 ID: 149628 | 基因类型: protein coding

关于 PYHIN1

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:158,931,552-158,990,870 (from NCBI)

This gene has 7 transcripts (splice variants), 53 orthologues and 3 paralogues. Broad expression in lymph node (RPKM 3.0), spleen (RPKM 2.1) and 19 other tissues.

功能概要

由该基因编码的蛋白质属于干扰素诱导蛋白的 HIN-200 家族，在其 C 末端共享一个 200 个氨基酸的特征基序。 HIN200 蛋白主要是核蛋白，参与对细胞周期控制、分化和凋亡很重要的基因的转录调节。该基因的下调与乳腺癌有关。该蛋白通过促进 MDM2 的泛素化和随后的降解来充当肿瘤抑制因子，从而导致 p53/TP53 的稳定。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2011 年 8 月]

The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and Apoptosis. Downregulation of this gene is associated with breast Cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

PYHIN1 基因产物(5)

mRNA	Protein	Name
NM_001410886.1	NP_001397815.1	pyrin and HIN domain-containing protein 1 isoform gamma 1
NM_152501.5	NP_689714.2	pyrin and HIN domain-containing protein 1 isoform alpha 1
NM_198928.5	NP_945146.1	pyrin and HIN domain-containing protein 1 isoform alpha 2
NM_198929.5	NP_945147.1	pyrin and HIN domain-containing protein 1 isoform beta 1
NM_198930.4	NP_945148.1	pyrin and HIN domain-containing protein 1 isoform beta 2

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 ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	16479015	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to interferon-alpha	IMP IMP: 通过突变表型推断	16479015	GOA
involved in positive regulation of DNA binding	IDA IDA: 通过直接分析推断	16479015	GOA
involved in positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA IDA: 通过直接分析推断	16479015	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	16479015	GOA
involved in positive regulation of protein localization to nucleus	IDA IDA: 通过直接分析推断	16479015	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	18247378	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	16479015	GOA
involved in protein destabilization	IMP IMP: 通过突变表型推断	16479015	GOA
involved in protein stabilization	IMP IMP: 通过突变表型推断	16479015	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of protein-containing complex	IMP IMP: 通过突变表型推断	16479015	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

PYHIN1 蛋白结构

PYRIN

HIN

0
100
200
300
400
492 a.a.

蛋白主名

其他名称

pyrin and HIN domain-containing protein 1

interferon-inducible protein X

关联疾病

疾病名称

别名

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

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-RS11493	PYHIN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	PYHIN1	VGNC	VGNC:76558
Others	PYHIN1	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PYHIN1 - pyrin and HIN domain family member 1 Gene

关于 PYHIN1

功能概要

PYHIN1 基因产物(5)

PYHIN1 蛋白结构

关联疾病

直系同源

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PYHIN1 - pyrin and HIN domain family member 1 Gene

关于 PYHIN1

功能概要

PYHIN1 基因产物(5)

PYHIN1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z