RIF1 - replication timing regulatory factor 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55183

About RIF1

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:151,409,902-151,534,435 (from NCBI)

This gene has 12 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in bone marrow (RPKM 5.5), testis (RPKM 5.3) and 25 other tissues.

Summary

This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

RIF1 Products (4)

mRNA Protein Name
NM_001177663.2 NP_001171134.1 telomere-associated protein RIF1 isoform 2
NM_001177664.2 NP_001171135.1 telomere-associated protein RIF1 isoform 2
NM_001177665.2 NP_001171136.1 telomere-associated protein RIF1 isoform 2
NM_018151.5 NP_060621.3 telomere-associated protein RIF1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22321011 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
28241136 GOA
involved in negative regulation of double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
23333306 GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining IDA
IDA: Inferred from direct assay
28241136 GOA
involved in telomere maintenance in response to DNA damage IDA
IDA: Inferred from direct assay
15583028 GOA
Cellular Component GO Annotation Evidence References Source
located in condensed chromosome IDA
IDA: Inferred from direct assay
15583028 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
28241136 GOA
located in spindle midzone IDA
IDA: Inferred from direct assay
15583028 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

RIF1 Protein Structure

Rif1_N

Rif1_N: Rap1-interacting factor 1 N terminal (19 - 370)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2472 a.a.
Protein Preferred Names Protein Names

telomere-associated protein RIF1

  • RAP1 interacting factor homolog

RIF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RIF1 Q5UIP0 PPP1CA Homo sapiens P62136
Y2H
22321011
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nemaline Myopathy

  • Rod Myopathy

  • Nemaline Body Disease

  • Nemaline Rod Myopathy

  • Myopathies, Nemaline

  • Nm

  • Nemaline Rod Disease

  • Rod Body Disease

  • Rod-Body Myopathy

  • Myopathy, Nemaline

  • Congenital Rod Disease

  • Nem

  • Nemaline Bodies

  • Myopathies Nemaline
Nemaline Myopathy 2

  • NEM2

  • Nemaline Myopathy 2, Autosomal Recessive

  • Nemaline Myopathy, Type 2

  • Neb-Related Nemaline Myopathy

  • Myopathy, Nemaline, Type 2
Arthrogryposis Multiplex Congenita 6

  • AMC6

  • Arthrogryposis Multiplex Congenita-6
Muscular Dystrophy

  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy
Candida Glabrata

  • Torulopsis Glabrata
Fanconi Anemia, Complementation Group D2

  • Fanconi Anemia Complementation Group D2

  • FANCD2

  • Fad2

  • Fa4

  • Fancd

  • Fanconi Pancytopenia Type 4

  • Fanconi Anemia, Complementation Group D

  • Fanconi Pancytopenia, Type 4

  • Facd

  • Fanconi Anemia Complementation Group D
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

Pre-clinical Phase

Bioactive Molecules (6)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11971 RIF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS06843 INSL6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS07786 LRIF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19378 Rif1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20965 Insl6 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25870 Rif1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RIF1 VGNC VGNC:64627
Mus musculus RIF1 MGD MGI:1098622
Bos taurus RIF1 VGNC VGNC:33965
Macaca mulatta RIF1 VGNC VGNC:76806
Rattus norvegicus RIF1 RGD RGD:1562474
Canis familiaris RIF1 VGNC VGNC:45575
Others RIF1 NCBI