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  2. MDM4 - MDM4 regulator of p53 Gene

MDM4 - MDM4 regulator of p53 Gene

中文名称:p53 的 MDM4 调节器

种属: Homo sapiens

同用名: HDMX; MDMX; MRP1; BMFS6

基因 ID: 4194 | 基因类型: protein coding

关于 MDM4

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:204,516,406-204,558,120 (from NCBI)

This gene has 16 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 75 phenotypes. Ubiquitous expression in bone marrow (RPKM 9.7), skin (RPKM 6.5) and 24 other tissues.

功能概要

该基因编码的核蛋白在 N 端包含一个 p53 结合结构域,在 C 端包含一个环指结构域,并显示出与 p53 结合蛋白 MDM2 的结构相似性。这两种蛋白质都与 p53 肿瘤抑制蛋白结合并抑制其活性,并已被证明在多种人类癌症中过度表达。然而,与降解 p53 的 MDM2 不同,该蛋白通过结合其转录激活域来抑制 p53。该蛋白还通过 RING 指结构域与 MDM2 蛋白相互作用,并抑制后者的降解。因此,这种蛋白质可以逆转 p53 的 MDM2 靶向降解,同时保持对 p53 反式激活和凋亡功能的抑制。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 2 月]

This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]

MDM4 基因产物(7)

mRNA Protein Name
NM_001204171.2 NP_001191100.1 protein Mdm4 isoform 2
NM_001204172.2 NP_001191101.1 protein Mdm4 isoform 3
NM_001278516.2 NP_001265445.1 protein Mdm4 isoform 4
NM_001278517.2 NP_001265446.1 protein Mdm4 isoform 5
NM_001278518.2 NP_001265447.1 protein Mdm4 isoform 6
NM_001278519.2 NP_001265448.1 protein Mdm4 isoform 7
NM_002393.5 NP_002384.2 protein Mdm4 isoform 1

MDM4 蛋白结构

SWIB

SWIB: SWIB/MDM2 domain (27 - 95)

zf-RanBP

zf-RanBP: Zn-finger in Ran binding protein and others (300 - 329)

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (435 - 482)

  • 0
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  • 400
  • 490 a.a.
蛋白主名 其他名称

protein Mdm4

MDM4, p53 regulator

重组 MDM4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74756 MDM4/MDMX Protein, Human (His) O15151-1/NP_002384.2 (M1-D134) ≥95%

关联疾病

疾病名称 别名
Bone Marrow Failure Syndrome 6

BMFS6

Intraocular Retinoblastoma

Pediatric Intraocular Retinoblastoma

Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Extraocular Retinoblastoma

Pediatric Extraocular Retinoblastoma

Bilateral Retinoblastoma
Unilateral Retinoblastoma
Leukocoria

Leucocoria

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Familial Retinoblastoma

Hereditary Retinoblastoma

Retinoblastoma

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus MDM4 MGD MGI:107934
Canis familiaris MDM4 VGNC VGNC:43107
Felis catus MDM4 VGNC VGNC:68224
Macaca mulatta MDM4 VGNC VGNC:74693
Rattus norvegicus MDM4 RGD RGD:1309306
Bos taurus MDM4 VGNC VGNC:31337
Others MDM4 NCBI