RIF1 (replication timing regulatory factor 1)

2009-09-01  

Identity

HGNC
RIF1
LOCATION
2q23.3
LOCUSID
55183
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55183
MIM: 608952
HGNC: 23207
Ensembl: ENSG00000080345

Variants:

dbSNP: 55183
ClinVar: 55183
TCGA: ENSG00000080345
COSMIC: RIF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080345ENST00000243326Q5UIP0
ENSG00000080345ENST00000414861H7BZN3
ENSG00000080345ENST00000428287Q5UIP0
ENSG00000080345ENST00000430328Q5UIP0
ENSG00000080345ENST00000444746Q5UIP0
ENSG00000080345ENST00000453091Q5UIP0
ENSG00000080345ENST00000454583H7C2B5

Expression (GTEx)

0
5
10
15
20
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
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
233333062013A cell cycle-dependent regulatory circuit composed of 53BP1-RIF1 and BRCA1-CtIP controls DNA repair pathway choice.343
234865252013RIF1 counteracts BRCA1-mediated end resection during DNA repair.124
228506742012Rif1 regulates the replication timing domains on the human genome.97
153424902004Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint.80
30022158201853BP1-RIF1-shieldin counteracts DSB resection through CST- and Polα-dependent fill-in.55
155830282004Human Rif1 protein binds aberrant telomeres and aligns along anaphase midzone microtubules.48
282734632017Reversal of DDK-Mediated MCM Phosphorylation by Rif1-PP1 Regulates Replication Initiation and Replisome Stability Independently of ATR/Chk1.31
194831922009Human RIF1 encodes an anti-apoptotic factor required for DNA repair.26
262562132015Rif1 Is Required for Resolution of Ultrafine DNA Bridges in Anaphase to Ensure Genomic Stability.23
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16

Citation

Dessen P

RIF1 (replication timing regulatory factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51082/rif1-(replication-timing-regulatory-factor-1)