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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29128

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 17934516
Intra
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 17934516
Intra
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 17934516
Intra
UHRF1 Q96T88 DNMT1 Homo sapiens P26358 19798101
Intra
UHRF1 Q96T88 DNMT1 Homo sapiens P26358
Y2H
17934516
Intra
UHRF1 Q96T88 DNMT3B Homo sapiens Q9UBC3 19798101
Intra
UHRF1 Q96T88 DNMT3B Homo sapiens Q9UBC3 19798101
Intra
UHRF1 Q96T88 DNMT3B Homo sapiens Q9UBC3 19798101
Intra
UHRF1 Q96T88 DNMT3A Homo sapiens Q9Y6K1 19798101
Intra
UHRF1 Q96T88 DNMT3A Homo sapiens Q9Y6K1 19798101
Intra
UHRF1 Q96T88 DNMT3A Homo sapiens Q9Y6K1 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
HY-P81313AA UHRF1 Antibody (YA1057)(PBS only) IHC-P Human
HY-P84743 UHRF1 Antibody (YA4440) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P84743A UHRF1 Antibody (YA4440)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P85479 UHRF1 Antibody (YA5171) WB, ICC/IF Human
HY-P85483 UHRF1(N-term) Antibody (YA5175) WB Human, Mouse

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

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