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

Homo sapiens

Also known as Np95; hNP95; ICBP90; RNF106; TDRD22; hUHRF1; huNp95

Gene ID: 29128 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	10646863	GOA
enables hemi-methylated DNA-binding	IDA IDA: Inferred from direct assay	17673620	GOA
enables histone binding	IDA IDA: Inferred from direct assay	21777816	GOA
enables methyl-CpG binding	IDA IDA: Inferred from direct assay	15361834	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	17967883	GOA
enables nucleic acid binding	EXP EXP: Inferred from Experiment	18772889	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15361834	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	37728657	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	17967883	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	21777816	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in heterochromatin formation	IDA IDA: Inferred from direct assay	17967883	GOA
involved in mitotic spindle assembly	IDA IDA: Inferred from direct assay	37728657	GOA
involved in negative regulation of gene expression via chromosomal CpG island methylation	IMP IMP: Inferred from mutant phenotype	17673620	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21777816	GOA
involved in positive regulation of protein metabolic process	IDA IDA: Inferred from direct assay	10646863	GOA
involved in protein autoubiquitination	IDA IDA: Inferred from direct assay	21745816	GOA
involved in regulation of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	15361834	GOA
involved in ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	22945642	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	17673620	GOA
located in euchromatin	IDA IDA: Inferred from direct assay	21777816	GOA
located in heterochromatin	IDA IDA: Inferred from direct assay	17967883	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10646863	GOA
located in replication fork	IDA IDA: Inferred from direct assay	17673620	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase UHRF1

RING finger protein 106

UHRF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	UHRF1	Q96T88	DNMT1	Homo sapiens	P26358	Pull Down	17934516
Intra	UHRF1	Q96T88	DNMT1	Homo sapiens	P26358	Anti Bait CoIP	17934516
Intra	UHRF1	Q96T88	DNMT1	Homo sapiens	P26358	Confocal	17934516
Intra	UHRF1	Q96T88	DNMT1	Homo sapiens	P26358	Anti Tag CoIP	19798101
Intra	UHRF1	Q96T88	DNMT1	Homo sapiens	P26358	Y2H	17934516
Intra	UHRF1	Q96T88	DNMT3B	Homo sapiens	Q9UBC3	Fluorescence	19798101
Intra	UHRF1	Q96T88	DNMT3B	Homo sapiens	Q9UBC3	Anti Bait CoIP	19798101
Intra	UHRF1	Q96T88	DNMT3B	Homo sapiens	Q9UBC3	Anti Tag CoIP	19798101
Intra	UHRF1	Q96T88	DNMT3A	Homo sapiens	Q9Y6K1	Anti Bait CoIP	19798101
Intra	UHRF1	Q96T88	DNMT3A	Homo sapiens	Q9Y6K1	Anti Tag CoIP	19798101
Intra	UHRF1	Q96T88	DNMT3A	Homo sapiens	Q9Y6K1	Fluorescence	19798101

Cross: Cross-species interaction Intra: Intraspecies interaction

UHRF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81313	UHRF1 Antibody (YA1056)	WB	Human, Mouse
HY-P81313A	UHRF1 Antibody (YA1057)	IHC-P	Human

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125292	NV03		98.82%	Unkown

Orthologs Information

Species	Symbol	Source	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

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