RIF1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RIF1 |
| Official Name | replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207] |
| Ensembl ID | ENSG00000080345 |
| Bio databases IDs | |
| Aliases | replication timing regulatory factor 1 |
| Synonyms | 5730435J01Rik, 6530403D07RIK, BLAP250, D2Ertd145e, DKFZP434D193, LOC101929336, replication timing regulatory factor 1, RGD1562474 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RIF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HEAT repeat
- conserved domain
- protein binding
- Rap1-interacting factor 1 N terminal
Pathways
Biological processes and signaling networks where the RIF1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- alcoholism
role in cell
- apoptosis
- activation in
- phosphorylation in
- binding in
- accumulation in
- growth
- survival
- association
- aggregation in
- loading in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Plasma Membrane
- chromosome
- nucleoplasm
- nuclear envelope
- nuclear lamina
- pronucleus
- central spindle
- telomeres
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RIF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- DNA repair
- negative regulation of gene expression, epigenetic
- telomeric heterochromatin assembly
- negative regulation of double-strand break repair via homologous recombination
- somatic stem cell maintenance
- positive regulation of isotype switching
- telomere maintenance
- response to DNA damage stimulus
- positive regulation of double-strand break repair via nonhomologous end joining
- telomere maintenance in response to DNA damage
Cellular Component
Where in the cell the gene product is active
- condensed chromosome
- nucleus
- nuclear membrane
- male pronucleus
- spindle midzone
- site of double-strand break
- cytoplasm
- female pronucleus
- chromatin
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding