RIF1 - replication timing regulatory factor 1 Gene

Homo sapiens

Gene ID: 55183 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22321011	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

0
400
800
1200
1600
2000
2472 a.a.

Protein Preferred Names

Protein Names

telomere-associated protein RIF1

RAP1 interacting factor homolog

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11971	RIF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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