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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-Experimental evidence at protein leveli

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).HMP:3 Publications

GO - Biological processi

Keywordsi

Biological processCell cycle, DNA damage, DNA repair

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Telomere-associated protein RIF1IKR:
Alternative name(s):
Rap1-interacting factor 1 homologIKR:
Gene namesi
Name:RIF1TAS:IBD:
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000080345.17.
HGNCiHGNC:23207. RIF1.

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Cytoskeleton, Nucleus, Telomere

Pathology & Biotechi

Organism-specific databases

DisGeNETi55183.
OpenTargetsiENSG00000080345.
PharmGKBiPA134933858.

Polymorphism and mutation databases

BioMutaiRIF1.
DMDMi68565701.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000973331 – 2472Telomere-associated protein RIF1Add BLAST2472

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei402PhosphoserineND:1
Modified residuei409PhosphothreonineND:1
Modified residuei782PhosphoserineND:1
Modified residuei979PhosphoserineND:1
Modified residuei1008PhosphoserineND:1
Modified residuei1047PhosphothreonineND:1
Modified residuei1162PhosphoserineND:1
Modified residuei1220PhosphothreonineND:1
Modified residuei1236PhosphoserineND:1
Modified residuei1238PhosphoserineND:1
Modified residuei1422PhosphoserineND:1
Modified residuei1454PhosphoserineND:1
Modified residuei1513PhosphoserineND:1
Modified residuei1518PhosphothreonineND:1
Modified residuei1542PhosphoserineND:1
Modified residuei1552PhosphoserineND:1
Modified residuei1554PhosphoserineND:1
Modified residuei1556PhosphoserineND:1
Modified residuei1564PhosphoserineHMP:1
Modified residuei1576PhosphoserineND:1
Modified residuei1579PhosphoserineND:1
Modified residuei1613PhosphoserineND:1
Modified residuei1616PhosphoserineND:1
Modified residuei1688PhosphoserineND:1
Modified residuei1693PhosphoserineND:1
Modified residuei1706PhosphoserineND:1
Modified residuei1709PhosphoserineND:1
Modified residuei1806PhosphothreonineND:1
Modified residuei1810PhosphoserineND:1
Modified residuei1873PhosphoserineND:1
Modified residuei1876PhosphoserineND:1
Modified residuei1926PhosphoserineND:1
Modified residuei1971PhosphoserineND:1
Modified residuei2144PhosphoserineND:1
Modified residuei2161PhosphoserineND:1
Modified residuei2167PhosphothreonineND:1
Modified residuei2172PhosphoserineND:1
Modified residuei2176PhosphoserineND:1
Modified residuei2195PhosphoserineHMP:1
Modified residuei2196PhosphoserineND:1
Modified residuei2205PhosphoserineND:1
Modified residuei2260PhosphoserineND:1
Modified residuei2339PhosphoserineND:1
Modified residuei2391PhosphoserineND:1
Modified residuei2393PhosphoserineND:1
Modified residuei2465PhosphoserineND:1
Modified residuei2471PhosphoserineND:1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5UIP0.
MaxQBiQ5UIP0.
PaxDbiQ5UIP0.
PeptideAtlasiQ5UIP0.
PRIDEiQ5UIP0.

PTM databases

iPTMnetiQ5UIP0.
PhosphoSitePlusiQ5UIP0.

Expressioni

Tissue specificityi

Highly expressed in testis.1 Publication

Developmental stagei

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

Gene expression databases

BgeeiENSG00000080345.
CleanExiHS_RIF1.
ExpressionAtlasiQ5UIP0. baseline and differential.
GenevisibleiQ5UIP0. HS.

Organism-specific databases

HPAiHPA036887.
HPA036888.

Interactioni

Subunit structurei

Interacts with TP53BP1 (when phosphorylated by ATM) (PubMed:23333306, PubMed:28241136). May interact with TRF2 (By similarity).HMP:2 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi120482. 58 interactors.
IntActiQ5UIP0. 135 interactors.
MINTiMINT-3974483.
STRINGi9606.ENSP00000243326.

Structurei

3D structure databases

ProteinModelPortaliQ5UIP0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1924 – 2472Interaction with condensed chromosomes in telophaseAdd BLAST549

Sequence similaritiesi

Belongs to the RIF1 family.IKR:

Phylogenomic databases

eggNOGiENOG410IJ7R. Eukaryota.
ENOG410YNMC. LUCA.
GeneTreeiENSGT00390000012204.
HOVERGENiHBG080431.
InParanoidiQ5UIP0.
KOiK11138.
OMAiPTESVYP.
OrthoDBiEOG091G01D4.
PhylomeDBiQ5UIP0.
TreeFamiTF323789.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiView protein in InterPro
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR028566. Rif1.
IPR022031. Rif1_N.
PANTHERiPTHR22928. PTHR22928. 3 hits.
PfamiView protein in Pfam
PF12231. Rif1_N. 1 hit.
SUPFAMiSSF48371. SSF48371. 4 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti96N → D in AAT40745 (PubMed:15342490).IKR:1
Sequence conflicti699A → P in BAA91705 (PubMed:14702039).IKR:1
Sequence conflicti1256M → V in BAA91705 (PubMed:14702039).IKR:1
Sequence conflicti2316R → G in BAB85058 (PubMed:14702039).IKR:1
Sequence conflicti2392L → F in BAB85058 (PubMed:14702039).IKR:1
Sequence conflicti2445 – 2446HE → RV in BAB85058 (PubMed:14702039).IKR:2
Sequence conflicti2464R → G in BAB85058 (PubMed:14702039).IKR:1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Alternative sequenceiVSP_0144312250 – 2275Missing in isoform 2. IBD:Add BLAST26

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]
UniGeneiHs.536537.
Hs.655671.
Hs.735592.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRIF1_HUMAN
AccessioniPrimary (citable) accession number: Q5UIP0
Secondary accession number(s): A6NC27
, C9JBR1, Q5H9R3, Q5UIP2, Q66YK6, Q6PRU2, Q8TE94, Q99772, Q9H830, Q9H9B9, Q9NVP5, Q9Y4R4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: October 25, 2017
This is version 132 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families