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Entry version 148 (18 Sep 2019)
Sequence version 2 (05 Jul 2005)
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Protein

Telomere-associated protein RIF1

Gene

RIF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs (PubMed:15342490, PubMed:28241136). In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 (PubMed:23333306, PubMed:28241136). Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs (PubMed:28241136). Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs (PubMed:23333306). In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase (PubMed:23333306). Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell cycle, DNA damage, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)

SIGNOR Signaling Network Open Resource

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SIGNORi
Q5UIP0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Telomere-associated protein RIF1Curated
Alternative name(s):
Rap1-interacting factor 1 homolog1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RIF11 PublicationImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23207 RIF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608952 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5UIP0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Cytoskeleton, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
55183

Open Targets

More...
OpenTargetsi
ENSG00000080345

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134933858

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RIF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
68565701

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000973331 – 2472Telomere-associated protein RIF1Add BLAST2472

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei402PhosphoserineCombined sources1
Modified residuei409PhosphothreonineCombined sources1
Modified residuei782PhosphoserineCombined sources1
Modified residuei979PhosphoserineCombined sources1
Modified residuei1008PhosphoserineCombined sources1
Modified residuei1047PhosphothreonineCombined sources1
Modified residuei1162PhosphoserineCombined sources1
Modified residuei1220PhosphothreonineCombined sources1
Modified residuei1236PhosphoserineCombined sources1
Modified residuei1238PhosphoserineCombined sources1
Modified residuei1422PhosphoserineCombined sources1
Modified residuei1454PhosphoserineCombined sources1
Modified residuei1513PhosphoserineCombined sources1
Modified residuei1518PhosphothreonineCombined sources1
Modified residuei1542PhosphoserineCombined sources1
Modified residuei1552PhosphoserineCombined sources1
Modified residuei1554PhosphoserineCombined sources1
Modified residuei1556PhosphoserineCombined sources1
Modified residuei1564PhosphoserineBy similarity1
Modified residuei1576PhosphoserineCombined sources1
Modified residuei1579PhosphoserineCombined sources1
Modified residuei1613PhosphoserineCombined sources1
Modified residuei1616PhosphoserineCombined sources1
Modified residuei1688PhosphoserineCombined sources1
Modified residuei1693PhosphoserineCombined sources1
Modified residuei1706PhosphoserineCombined sources1
Modified residuei1709PhosphoserineCombined sources1
Modified residuei1806PhosphothreonineCombined sources1
Modified residuei1810PhosphoserineCombined sources1
Modified residuei1873PhosphoserineCombined sources1
Modified residuei1876PhosphoserineCombined sources1
Modified residuei1926PhosphoserineCombined sources1
Modified residuei1971PhosphoserineCombined sources1
Modified residuei2144PhosphoserineCombined sources1
Modified residuei2161PhosphoserineCombined sources1
Modified residuei2167PhosphothreonineCombined sources1
Modified residuei2172PhosphoserineCombined sources1
Modified residuei2176PhosphoserineCombined sources1
Modified residuei2195PhosphoserineBy similarity1
Modified residuei2196PhosphoserineCombined sources1
Modified residuei2205PhosphoserineCombined sources1
Modified residuei2260PhosphoserineCombined sources1
Modified residuei2339PhosphoserineCombined sources1
Modified residuei2391PhosphoserineCombined sources1
Modified residuei2393PhosphoserineCombined sources1
Modified residuei2465PhosphoserineCombined sources1
Modified residuei2471PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-3254

Encyclopedia of Proteome Dynamics

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EPDi
Q5UIP0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5UIP0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q5UIP0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5UIP0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5UIP0

PeptideAtlas

More...
PeptideAtlasi
Q5UIP0

PRoteomics IDEntifications database

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PRIDEi
Q5UIP0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
65248 [Q5UIP0-1]
65249 [Q5UIP0-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1791

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5UIP0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q5UIP0

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q5UIP0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in testis.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expression peaks in late G2/S phase of the cell cycle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000080345 Expressed in 226 organ(s), highest expression level in gastrocnemius

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5UIP0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5UIP0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036887
HPA036888

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TP53BP1 (when phosphorylated by ATM) (PubMed:23333306, PubMed:28241136). May interact with TRF2 (By similarity).

Interacts with SHLD2 (PubMed:29789392).

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PPP1CAP621364EBI-711331,EBI-357253

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120482, 76 interactors

Protein interaction database and analysis system

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IntActi
Q5UIP0, 154 interactors

Molecular INTeraction database

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MINTi
Q5UIP0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000243326

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1924 – 2472Interaction with condensed chromosomes in telophaseAdd BLAST549

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RIF1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJ7R Eukaryota
ENOG410YNMC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012204

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5UIP0

KEGG Orthology (KO)

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KOi
K11138

Identification of Orthologs from Complete Genome Data

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OMAi
GNNLHEK

Database of Orthologous Groups

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OrthoDBi
10400at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5UIP0

TreeFam database of animal gene trees

More...
TreeFami
TF323789

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR022031 Rif1_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF12231 Rif1_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5UIP0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTARGQSPLA PLLETLEDPS ASHGGQTDAY LTLTSRMTGE EGKEVITEIE
60 70 80 90 100
KKLPRLYKVL KTHISSQNSE LSSAALQALG FCLYNPKITS ELSEANALEL
110 120 130 140 150
LSKLNDTIKN SDKNVRTRAL WVISKQTFPS EVVGKMVSSI IDSLEILFNK
160 170 180 190 200
GETHSAVVDF EALNVIVRLI EQAPIQMGEE AVRWAKLVIP LVVHSAQKVH
210 220 230 240 250
LRGATALEMG MPLLLQKQQE IASITEQLMT TKLISELQKL FMSKNETYVL
260 270 280 290 300
KLWPLFVKLL GRTLHRSGSF INSLLQLEEL GFRSGAPMIK KIAFIAWKSL
310 320 330 340 350
IDNFALNPDI LCSAKRLKLL MQPLSSIHVR TETLALTKLE VWWYLLMRLG
360 370 380 390 400
PHLPANFEQV CVPLIQSTIS IDSNASPQGN SCHVATSPGL NPMTPVHKGA
410 420 430 440 450
SSPYGAPGTP RMNLSSNLGG MATIPSIQLL GLEMLLHFLL GPEALSFAKQ
460 470 480 490 500
NKLVLSLEPL EHPLISSPSF FSKHANTLIT AVHDSFVAVG KDAPDVVVSA
510 520 530 540 550
IWKELISLVK SVTESGNKKE KPGSEVLTLL LKSLESIVKS EVFPVSKTLV
560 570 580 590 600
LMEITIKGLP QKVLGSPAYQ VANMDILNGT PALFLIQLIF NNFLECGVSD
610 620 630 640 650
ERFFLSLESL VGCVLSGPTS PLAFSDSVLN VINQNAKQLE NKEHLWKMWS
660 670 680 690 700
VIVTPLTELI NQTNEVNQGD ALEHNFSAIY GALTLPVNHI FSEQRFPVAT
710 720 730 740 750
MKTLLRTWSE LYRAFARCAA LVATAEENLC CEELSSKIMS SLEDEGFSNL
760 770 780 790 800
LFVDRIIYII TVMVDCIDFS PYNIKYQPKV KSPQRPSDWS KKKNEPLGKL
810 820 830 840 850
TSLFKLIVKV IYSFHTLSFK EAHSDTLFTI GNSITGIISS VLGHISLPSM
860 870 880 890 900
IRKIFATLTR PLALFYENSK LDEVPKVYSC LNNKLEKLLG EIIACLQFSY
910 920 930 940 950
TGTYDSELLE QLSPLLCIIF LHKNKQIRKQ SAQFWNATFA KVMMLVYPEE
960 970 980 990 1000
LKPVLTQAKQ KFLLLLPGLE TVEMMEESSG PYSDGTENSQ LNVKISGMER
1010 1020 1030 1040 1050
KSNGKRDSFL AQTKNKKENM KPAAKLKLES SSLKVKGEIL LEEEKSTDFV
1060 1070 1080 1090 1100
FIPPEGKDAK ERILTDHQKE VLKTKRCDIP AMYNNLDVSQ DTLFTQYSQE
1110 1120 1130 1140 1150
EPMEIPTLTR KPKEDSKMMI TEEQMDSDIV IPQDVTEDCG MAEHLEKSSL
1160 1170 1180 1190 1200
SNNECGSLDK TSPEMSNSNN DERKKALISS RKTSTECASS TENSFVVSSS
1210 1220 1230 1240 1250
SVSNTTVAGT PPYPTSRRQT FITLEKFDGS ENRPFSPSPL NNISSTVTVK
1260 1270 1280 1290 1300
NNQETMIKTD FLPKAKQREG TFSKSDSEKI VNGTKRSSRR AGKAEQTGNK
1310 1320 1330 1340 1350
RSKPLMRSEP EKNTEESVEG IVVLENNPPG LLNQTECVSD NQVHLSESTM
1360 1370 1380 1390 1400
EHDNTKLKAA TVENAVLLET NTVEEKNVEI NLESKENTPP VVISADQMVN
1410 1420 1430 1440 1450
EDSQVQITPN QKTLRRSSRR RSEVVESTTE SQDKENSHQK KERRKEEEKP
1460 1470 1480 1490 1500
LQKSPLHIKD DVLPKQKLIA EQTLQENLIE KGSNLHEKTL GETSANAETE
1510 1520 1530 1540 1550
QNKKKADPEN IKSEGDGTQD IVDKSSEKLV RGRTRYQTRR ASQGLLSSIE
1560 1570 1580 1590 1600
NSESDSSEAK EEGSRKKRSG KWKNKSNESV DIQDQEEKVV KQECIKAENQ
1610 1620 1630 1640 1650
SHDYKATSEE DVSIKSPICE KQDESNTVIC QDSTVTSDLL QVPDDLPNVC
1660 1670 1680 1690 1700
EEKNETSKYA EYSFTSLPVP ESNLRTRNAI KRLHKRDSFD NCSLGESSKI
1710 1720 1730 1740 1750
GISDISSLSE KTFQTLECQH KRSRRVRRSK GCDCCGEKSQ PQEKSLIGLK
1760 1770 1780 1790 1800
NTENNDVEIS ETKKADVQAP VSPSETSQAN PYSEGQFLDE HHSVNFHLGL
1810 1820 1830 1840 1850
KEDNDTINDS LIVSETKSKE NTMQESLPSG IVNFREEICD MDSSEAMSLE
1860 1870 1880 1890 1900
SQESPNENFK TVGPCLGDSK NVSQESLETK EEKPEETPKM ELSLENVTVE
1910 1920 1930 1940 1950
GNACKVTESN LEKAKTMELN VGNEASFHGQ ERTKTGISEE AAIEENKRND
1960 1970 1980 1990 2000
DSEADTAKLN AKEVATEEFN SDISLSDNTT PVKLNAQTEI SEQTAAGELD
2010 2020 2030 2040 2050
GGNDVSDLHS SEETNTKMKN NEEMMIGEAM AETGHDGETE NEGITTKTSK
2060 2070 2080 2090 2100
PDEAETNMLT AEMDNFVCDT VEMSTEEGII DANKTETNTE YSKSEEKLDN
2110 2120 2130 2140 2150
NQMVMESDIL QEDHHTSQKV EEPSQCLASG TAISELIIED NNASPQKLRE
2160 2170 2180 2190 2200
LDPSLVSAND SPSGMQTRCV WSPLASPSTS ILKRGLKRSQ EDEISSPVNK
2210 2220 2230 2240 2250
VRRVSFADPI YQAGLADDID RRCSIVRSHS SNSSPIGKSV KTSPTTQSKH
2260 2270 2280 2290 2300
NTTSAKGFLS PGSRSPKFKS SKKCLISEMA KESIPCPTES VYPPLVNCVA
2310 2320 2330 2340 2350
PVDIILPQIT SNMWARGLGQ LIRAKNIKTI GDLSTLTASE IKTLPIRSPK
2360 2370 2380 2390 2400
VSNVKKALRI YHEQQVKTRG LEEIPVFDIS EKTVNGIENK SLSPDEERLV
2410 2420 2430 2440 2450
SDIIDPVALE IPLSKNLLAQ ISALALQLDS EDLHNYSGSQ LFEMHEKLSC
2460 2470
MANSVIKNLQ SRWRSPSHEN SI
Length:2,472
Mass (Da):274,466
Last modified:July 5, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA45DCE3C5F9E052D
GO
Isoform 2 (identifier: Q5UIP0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2250-2275: Missing.

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Length:2,446
Mass (Da):271,689
Checksum:i44D755C85EF23042
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2B5H7C2B5_HUMAN
Telomere-associated protein RIF1
RIF1
746Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZN3H7BZN3_HUMAN
Telomere-associated protein RIF1
RIF1
845Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91705 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14313 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14792 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB85058 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI45961 differs from that shown. Reason: Frameshift at position 470.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti96N → D in AAT40745 (PubMed:15342490).Curated1
Sequence conflicti699A → P in BAA91705 (PubMed:14702039).Curated1
Sequence conflicti1256M → V in BAA91705 (PubMed:14702039).Curated1
Sequence conflicti2316R → G in BAB85058 (PubMed:14702039).Curated1
Sequence conflicti2392L → F in BAB85058 (PubMed:14702039).Curated1
Sequence conflicti2445 – 2446HE → RV in BAB85058 (PubMed:14702039).Curated2
Sequence conflicti2464R → G in BAB85058 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_022788836G → S2 PublicationsCorresponds to variant dbSNP:rs2444263Ensembl.1
Natural variantiVAR_0227891362V → M2 PublicationsCorresponds to variant dbSNP:rs2123465Ensembl.1
Natural variantiVAR_0227901686R → G. Corresponds to variant dbSNP:rs3732305Ensembl.1
Natural variantiVAR_0359831784E → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0227911862V → I. Corresponds to variant dbSNP:rs2444258Ensembl.1
Natural variantiVAR_0359841955D → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0227922021N → Y3 PublicationsCorresponds to variant dbSNP:rs2444257Ensembl.1
Natural variantiVAR_0227932165M → R. Corresponds to variant dbSNP:rs16830057Ensembl.1
Natural variantiVAR_0227942418L → V5 PublicationsCorresponds to variant dbSNP:rs1065177Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0144312250 – 2275Missing in isoform 2. 2 PublicationsAdd BLAST26

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY585745 mRNA Translation: AAT40745.1
AY727910 mRNA Translation: AAV51401.1
AY727911 mRNA Translation: AAV51402.1
AY727912 mRNA Translation: AAV51403.1
AY727913 mRNA Translation: AAV51404.1
AY584066 mRNA Translation: AAS94233.1
AC009311 Genomic DNA No translation available.
AC009497 Genomic DNA No translation available.
AL080129 mRNA Translation: CAB45727.1
CR933663 mRNA Translation: CAI45961.1 Sequence problems.
AK001461 mRNA Translation: BAA91705.1 Different initiation.
AK022932 mRNA Translation: BAB14313.1 Different initiation.
AK024033 mRNA Translation: BAB14792.1 Different initiation.
AK074349 mRNA Translation: BAB85058.1 Different initiation.
U79263 mRNA Translation: AAB50209.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2194.1 [Q5UIP0-1]
CCDS54406.1 [Q5UIP0-2]

Protein sequence database of the Protein Information Resource

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PIRi
T12518

NCBI Reference Sequences

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RefSeqi
NP_001171134.1, NM_001177663.1 [Q5UIP0-2]
NP_001171135.1, NM_001177664.1 [Q5UIP0-2]
NP_001171136.1, NM_001177665.1 [Q5UIP0-2]
NP_060621.3, NM_018151.4 [Q5UIP0-1]
XP_005246722.1, XM_005246665.3 [Q5UIP0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000243326; ENSP00000243326; ENSG00000080345 [Q5UIP0-1]
ENST00000428287; ENSP00000415691; ENSG00000080345 [Q5UIP0-2]
ENST00000430328; ENSP00000416123; ENSG00000080345 [Q5UIP0-2]
ENST00000444746; ENSP00000390181; ENSG00000080345 [Q5UIP0-1]
ENST00000453091; ENSP00000414615; ENSG00000080345 [Q5UIP0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55183

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55183

UCSC genome browser

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UCSCi
uc002txl.4 human [Q5UIP0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY585745 mRNA Translation: AAT40745.1
AY727910 mRNA Translation: AAV51401.1
AY727911 mRNA Translation: AAV51402.1
AY727912 mRNA Translation: AAV51403.1
AY727913 mRNA Translation: AAV51404.1
AY584066 mRNA Translation: AAS94233.1
AC009311 Genomic DNA No translation available.
AC009497 Genomic DNA No translation available.
AL080129 mRNA Translation: CAB45727.1
CR933663 mRNA Translation: CAI45961.1 Sequence problems.
AK001461 mRNA Translation: BAA91705.1 Different initiation.
AK022932 mRNA Translation: BAB14313.1 Different initiation.
AK024033 mRNA Translation: BAB14792.1 Different initiation.
AK074349 mRNA Translation: BAB85058.1 Different initiation.
U79263 mRNA Translation: AAB50209.1
CCDSiCCDS2194.1 [Q5UIP0-1]
CCDS54406.1 [Q5UIP0-2]
PIRiT12518
RefSeqiNP_001171134.1, NM_001177663.1 [Q5UIP0-2]
NP_001171135.1, NM_001177664.1 [Q5UIP0-2]
NP_001171136.1, NM_001177665.1 [Q5UIP0-2]
NP_060621.3, NM_018151.4 [Q5UIP0-1]
XP_005246722.1, XM_005246665.3 [Q5UIP0-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120482, 76 interactors
IntActiQ5UIP0, 154 interactors
MINTiQ5UIP0
STRINGi9606.ENSP00000243326

PTM databases

GlyConnecti1791
iPTMnetiQ5UIP0
PhosphoSitePlusiQ5UIP0
SwissPalmiQ5UIP0

Polymorphism and mutation databases

BioMutaiRIF1
DMDMi68565701

Proteomic databases

CPTACiCPTAC-3254
EPDiQ5UIP0
jPOSTiQ5UIP0
MassIVEiQ5UIP0
MaxQBiQ5UIP0
PaxDbiQ5UIP0
PeptideAtlasiQ5UIP0
PRIDEiQ5UIP0
ProteomicsDBi65248 [Q5UIP0-1]
65249 [Q5UIP0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243326; ENSP00000243326; ENSG00000080345 [Q5UIP0-1]
ENST00000428287; ENSP00000415691; ENSG00000080345 [Q5UIP0-2]
ENST00000430328; ENSP00000416123; ENSG00000080345 [Q5UIP0-2]
ENST00000444746; ENSP00000390181; ENSG00000080345 [Q5UIP0-1]
ENST00000453091; ENSP00000414615; ENSG00000080345 [Q5UIP0-2]
GeneIDi55183
KEGGihsa:55183
UCSCiuc002txl.4 human [Q5UIP0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55183
DisGeNETi55183

GeneCards: human genes, protein and diseases

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GeneCardsi
RIF1
HGNCiHGNC:23207 RIF1
HPAiHPA036887
HPA036888
MIMi608952 gene
neXtProtiNX_Q5UIP0
OpenTargetsiENSG00000080345
PharmGKBiPA134933858

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJ7R Eukaryota
ENOG410YNMC LUCA
GeneTreeiENSGT00390000012204
InParanoidiQ5UIP0
KOiK11138
OMAiGNNLHEK
OrthoDBi10400at2759
PhylomeDBiQ5UIP0
TreeFamiTF323789

Enzyme and pathway databases

ReactomeiR-HSA-5693571 Nonhomologous End-Joining (NHEJ)
SIGNORiQ5UIP0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
RIF1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RIF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55183

Pharos

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Pharosi
Q5UIP0

Protein Ontology

More...
PROi
PR:Q5UIP0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000080345 Expressed in 226 organ(s), highest expression level in gastrocnemius
ExpressionAtlasiQ5UIP0 baseline and differential
GenevisibleiQ5UIP0 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR022031 Rif1_N
PfamiView protein in Pfam
PF12231 Rif1_N, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRIF1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5UIP0
Secondary accession number(s): A6NC27
, C9JBR1, Q5H9R3, Q5UIP2, Q66YK6, Q6PRU2, Q8TE94, Q99772, Q9H830, Q9H9B9, Q9NVP5, Q9Y4R4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: September 18, 2019
This is version 148 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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