UHRF1 (ubiquitin like with PHD and ring finger domains 1)

2005-11-01  

Identity

HGNC
UHRF1
LOCATION
19p13.3
LOCUSID
29128
ALIAS
ICBP90,Np95,RNF106,TDRD22,hNP95,hUHRF1,huNp95
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29128
MIM: 607990
HGNC: 12556
Ensembl: ENSG00000276043

Variants:

dbSNP: 29128
ClinVar: 29128
TCGA: ENSG00000276043
COSMIC: UHRF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000276043ENST00000612630Q96T88
ENSG00000276043ENST00000613817A0A087WWG9
ENSG00000276043ENST00000615884Q96T88
ENSG00000276043ENST00000616255Q96T88
ENSG00000276043ENST00000620565A0A087WTW0
ENSG00000276043ENST00000622802A0A087WVR3
ENSG00000276043ENST00000624301Q96T88
ENSG00000276043ENST00000650932Q96T88

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
DNA methylationREACTOMER-HSA-5334118

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
thymus
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
176736202007UHRF1 plays a role in maintaining DNA methylation in mammalian cells.449
187728892008Structural basis for recognition of hemi-methylated DNA by the SRA domain of human UHRF1.182
170654392006Functional genomic analysis of oligodendrocyte differentiation.149
230227292012Association of UHRF1 with methylated H3K9 directs the maintenance of DNA methylation.124
153618342004ICBP90, an E2F-1 target, recruits HDAC1 and binds to methyl-CpG through its SRA domain.114
234630062013UHRF1 targets DNMT1 for DNA methylation through cooperative binding of hemi-methylated DNA and methylated H3K9.110
244861812014UHRF1 overexpression drives DNA hypomethylation and hepatocellular carcinoma.109
179678832008ICBP90, a novel methyl K9 H3 binding protein linking protein ubiquitination with heterochromatin formation.108
190568282009UHRF1 binds G9a and participates in p21 transcriptional regulation in mammalian cells.87
217778162011PHD finger recognition of unmodified histone H3R2 links UHRF1 to regulation of euchromatic gene expression.84

Citation

Dessen P

UHRF1 (ubiquitin like with PHD and ring finger domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2005-11-01

Online version: http://atlasgeneticsoncology.org/gene/43071/uhrf1