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    RIF1 RAP1 interacting factor homolog (yeast) [ Homo sapiens ]

    Gene ID: 55183, updated on 11-May-2012
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    Summary

    Official Symbol
    RIF1provided by HGNC
    Official Full Name
    RAP1 interacting factor homolog (yeast)provided by HGNC
    Primary source
    HGNC:23207
    See related
    Ensembl:ENSG00000080345; HPRD:10603; MIM:608952; Vega:OTTHUMG00000131886
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ12870; DKFZp434D1026; DKFZp781N1478
    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]
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    Genomic context

    Location :
    2q23.3
    Sequence :
    Chromosome: 2; NC_000002.11 (152266397..152333860)
    See RIF1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene N-myc (and STAT) interactor Neighboring gene microRNA 4773-1 Neighboring gene microRNA 4773-2 Neighboring gene tumor necrosis factor, alpha-induced protein 6 Neighboring gene nebulin Neighboring gene ADP-ribosylation factor-like 5A

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Protein phosphatase 1α interacting proteins in the human brain. Esteves SL, et al. OMICS, 2012 Jan-Feb. PMID 22321011.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Comparative proteomic analysis identifies a role for SUMO in protein quality control. Tatham MH, et al. Sci Signal, 2011 Jun 21. PMID 21693764.
    4. Purification and identification of endogenous polySUMO conjugates. Bruderer R, et al. EMBO Rep, 2011 Feb. PMID 21252943.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (22) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    2. High RIF1 expression is associated with breast tumors.
      Title: Human RIF1 encodes an anti-apoptotic factor required for DNA repair.
    3. Rif1 functions in the intra-S-phase checkpoint that serves to slow down DNA synthesis when DNA damage has occurred.
      Title: Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint.
    4. In telophase, hRif1 localized to chromosomes, and in interphase, it was intranuclear. These results define a novel subcellular localization behavior for hRif1 during the cell cycle.
      Title: Human Rif1 protein binds aberrant telomeres and aligns along anaphase midzone microtubules.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q5UIP0 Bromodomain containing 7 BRD7    HPRD  PubMed  
    Q5UIP0 Q12873 CHD3    HPRD  PubMed  
    Q5UIP0 P60022 DEFB1    HPRD  PubMed  
    Q5UIP0 Q99689 FEZ1    HPRD  PubMed  
    Q5UIP0 Q9Y2X7 GIT1    HPRD  PubMed  
    Q5UIP0 Q9Y223 GNE    HPRD  PubMed  
    Q5UIP0 P54257 HAP1    HPRD  PubMed  
    Q5UIP0 HMP19 protein HMP19    HPRD  PubMed  
    Q5UIP0 Q9P2H0 KIAA1377    HPRD  PubMed  
    Q5UIP0 Q13310 PABPC4    HPRD  PubMed  
    Q5UIP0 Q8N2W9 PIAS4    HPRD  PubMed  
    Q5UIP0 Q15047 SETDB1    HPRD  PubMed  
    BioGRID:120482 BioGRID:107612 CLN3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120482 BioGRID:109142 GRB2    BioGRID  PubMed Two-hybrid 
    BioGRID:120482 BioGRID:111493 PPP1CA    BioGRID  PubMed Two-hybrid 
    BioGRID:120482 BioGRID:116982 SIRT3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120482 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120482 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    telomere-associated protein RIF1
    Names
    telomere-associated protein RIF1
    rap1-interacting factor 1 homolog
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017162.1 RefSeqGene

      Range
      5001..72464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001177663.1 → NP_001171134.1  telomere-associated protein RIF1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Transcript variant 2, 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AC009497, AY727910
      Consensus CDS
      CCDS54406.1
      UniProtKB/Swiss-Prot
      Q5UIP0
      Related
      ENSP00000414615, OTTHUMP00000207206, ENST00000453091, OTTHUMT00000338302
      Conserved Domains (1) summary
      pfam12231
      Location:168 – 301
      Blast Score: 378
      Rif1_N; Rap1-interacting factor 1 N terminal

    2. NM_001177664.1 → NP_001171135.1  telomere-associated protein RIF1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Transcript variant 2, 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AC009497, AY584066, AY727911
      Consensus CDS
      CCDS54406.1
      UniProtKB/Swiss-Prot
      Q5UIP0
      Related
      ENSP00000415691, OTTHUMP00000207208, ENST00000428287, OTTHUMT00000338304
      Conserved Domains (1) summary
      pfam12231
      Location:168 – 301
      Blast Score: 378
      Rif1_N; Rap1-interacting factor 1 N terminal

    3. NM_001177665.1 → NP_001171136.1  telomere-associated protein RIF1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Transcript variant 2, 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AC009497, AY584066, AY727912
      Consensus CDS
      CCDS54406.1
      UniProtKB/Swiss-Prot
      Q5UIP0
      Related
      ENSP00000416123, OTTHUMP00000207210, ENST00000430328, OTTHUMT00000338307
      Conserved Domains (1) summary
      pfam12231
      Location:168 – 301
      Blast Score: 378
      Rif1_N; Rap1-interacting factor 1 N terminal

    4. NM_018151.4 → NP_060621.3  telomere-associated protein RIF1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC009497, AY584066, AY727913
      Consensus CDS
      CCDS2194.1
      UniProtKB/Swiss-Prot
      Q5UIP0
      Related
      ENSP00000390181, OTTHUMP00000207207, ENST00000444746, OTTHUMT00000338303
      Conserved Domains (1) summary
      pfam12231
      Location:168 – 301
      Blast Score: 378
      Rif1_N; Rap1-interacting factor 1 N terminal

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      152266397..152333860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      144162934..144230323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009311.3 (148720..160424) None
    genomic AC009497.3 None
    genomic CH471058.2 EAX11507.1
      EAX11508.1
      EAX11509.1
      EAX11510.1
    mRNA AK000323.1 None
    mRNA AK001461.1 BAA91705.1
    mRNA AK022932.1 BAB14313.1
    mRNA AK024033.1 BAB14792.1
    mRNA AK074349.1 BAB85058.1
    mRNA AK299291.1 BAG61306.1
    mRNA AK299572.1 BAG61511.1
    mRNA AL080129.1 CAB45727.1
    mRNA AL137363.1 None
    mRNA AY584066.1 AAS94233.1
    mRNA AY585745.1 AAT40745.1
    mRNA AY727910.1 AAV51401.1
    mRNA AY727911.1 AAV51402.1
    mRNA AY727912.1 AAV51403.1
    mRNA AY727913.1 AAV51404.1
    mRNA BC072675.1 None
    mRNA BX648324.1 None
    mRNA CR933663.1 CAI45961.1
    mRNA U79263.1 AAB50209.1
    other-genetic BC172393.1 AAI72393.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5UIP0.2 GenPept UniProtKB/Swiss-Prot:Q5UIP0
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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