1. Gene
  2. UHRF1 - ubiquitin like with PHD and ring finger domains 1 Gene

UHRF1 - ubiquitin like with PHD and ring finger domains 1 Gene

中文名称:泛素样 PHD 和无名指结构域 1

种属: Homo sapiens

同用名: Np95; hNP95; ICBP90; RNF106; TDRD22; hUHRF1; huNp95

基因 ID: 29128 | 基因类型: protein coding

关于 UHRF1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:4,903,080-4,962,154 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues and 2 paralogues. Broad expression in bone marrow (RPKM 7.7), lymph node (RPKM 6.3) and 14 other tissues.

功能概要

该基因编码环指型 E3 泛素连接酶亚家族的成员。该蛋白质与特定的 DNA 序列结合,并募集组蛋白脱乙酰酶来调节基因表达。其表达在 G1 晚期达到峰值,并在细胞周期的 G2 和 M 期持续。它通过调节拓扑异构酶 IIalpha 和视网膜母细胞瘤基因表达在 G1/S 转换中发挥重要作用,并在 p53 依赖性 DNA 损伤检查点发挥作用。它被认为是整合表观遗传信息的中枢蛋白。该基因在多种癌症中上调,因此被认为是治疗靶点。已发现该基因编码不同异构体的多个转录变体。 12 号染色体上存在一个相关的假基因。[RefSeq 提供,2014 年 2 月]

This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating Topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]

UHRF1 基因产物(5)

mRNA Protein Name
NM_001048201.3 NP_001041666.1 E3 ubiquitin-protein ligase UHRF1 isoform 1
NM_001290050.2 NP_001276979.1 E3 ubiquitin-protein ligase UHRF1 isoform 1
NM_001290051.2 NP_001276980.1 E3 ubiquitin-protein ligase UHRF1 isoform 1
NM_001290052.2 NP_001276981.1 E3 ubiquitin-protein ligase UHRF1 isoform 1
NM_013282.5 NP_037414.3 E3 ubiquitin-protein ligase UHRF1 isoform 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 cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
10646863 GOA
enables hemi-methylated DNA-binding IDA
IDA: 通过直接分析推断
17673620 GOA
enables histone binding IDA
IDA: 通过直接分析推断
21777816 GOA
enables methyl-CpG binding IDA
IDA: 通过直接分析推断
15361834 GOA
enables methylated histone binding IDA
IDA: 通过直接分析推断
17967883 GOA
enables nucleic acid binding EXP
EXP: 通过实验结果推断
18772889 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15361834 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
37728657 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
17967883 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
21777816 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in heterochromatin formation IDA
IDA: 通过直接分析推断
17967883 GOA
involved in mitotic spindle assembly IDA
IDA: 通过直接分析推断
37728657 GOA
involved in negative regulation of gene expression via chromosomal CpG island methylation IMP
IMP: 通过突变表型推断
17673620 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
21777816 GOA
involved in positive regulation of protein metabolic process IDA
IDA: 通过直接分析推断
10646863 GOA
involved in protein autoubiquitination IDA
IDA: 通过直接分析推断
21745816 GOA
involved in regulation of epithelial cell proliferation IMP
IMP: 通过突变表型推断
15361834 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
22945642 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
17673620 GOA
located in euchromatin IDA
IDA: 通过直接分析推断
21777816 GOA
located in heterochromatin IDA
IDA: 通过直接分析推断
17967883 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10646863 GOA
located in replication fork IDA
IDA: 通过直接分析推断
17673620 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
蛋白主名 其他名称

E3 ubiquitin-protein ligase UHRF1

RING finger protein 106

UHRF1 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
种属内
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 17934516
种属内
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 17934516
种属内
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 17934516
种属内
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 19798101
种属内
UHRF1 Q96T88 DNMT1 Homo sapiens P26358
Y2H
17934516
种属内
UHRF1 Q96T88 DNMT3B Homo sapiens Q9UBC3 19798101
种属内
UHRF1 Q96T88 DNMT3B Homo sapiens Q9UBC3 19798101
种属内
UHRF1 Q96T88 DNMT3B Homo sapiens Q9UBC3 19798101
种属内
UHRF1 Q96T88 DNMT3A Homo sapiens Q9Y6K1 19798101
种属内
UHRF1 Q96T88 DNMT3A Homo sapiens Q9Y6K1 19798101
种属内
UHRF1 Q96T88 DNMT3A Homo sapiens Q9Y6K1 19798101
种属间: 跨种属相互作用 种属内: 同种属相互作用

UHRF1 抗体

目录号 产品名 应用 反应物种
HY-P81313 UHRF1 Antibody (YA1056) WB Human, Mouse
HY-P81313A UHRF1 Antibody (YA1057) IHC-P Human

关联疾病

疾病名称 别名
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy

ADCADN

Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy

Adca-Dn Syndrome

Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome

Adca-Dn

Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome

Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant

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

Oligospermia
Oculoauricular Syndrome

OCACS

Schorderet-Munier-Franceschetti Syndrome

Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear

Oculoauricular Syndrome, Schorderet Type

Oculo-Auricular Syndrome

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

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

Neuropathy, Hereditary Sensory, Type Ie

HSN1E

Hsn Ie

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsan 1

Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

Hereditary Sensory Neuropathy Type 1

Hsn1

Hereditary Sensory And Autonomic Neuropathy Type 1

Neuropathy Hereditary Sensory And Autonomic Type 1

Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

Neuropathy, Hereditary Sensory, 1e

Neuropathy Hereditary Sensory With Hearing Loss And Dementia

Neuropathy, Hereditary Sensory, Type I

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

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 UHRF1 MGD MGI:1338889
Macaca mulatta UHRF1 VGNC VGNC:78713
Bos taurus UHRF1 VGNC VGNC:36654
Rattus norvegicus UHRF1 RGD RGD:1595855
Canis familiaris UHRF1 VGNC VGNC:48123
Others UHRF1 NCBI