RTF2_HUMAN
ID RTF2_HUMAN Reviewed; 306 AA.
AC Q9BY42; E1P5Z9; Q9BYL7; Q9HCV9; Q9NX29; Q9NZZ8; Q9P002; Q9UHW3;
DT 10-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Replication termination factor 2 {ECO:0000305};
DE Short=RTF2 {ECO:0000305};
DE AltName: Full=Replication termination factor 2 domain-containing protein 1 {ECO:0000305};
GN Name=RTF2 {ECO:0000312|HGNC:HGNC:15890};
GN Synonyms=C20orf43, RTFDC1 {ECO:0000312|HGNC:HGNC:15890};
GN ORFNames=AD-007, CDA05, HSPC164, HSPC169;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-171.
RC TISSUE=Adrenal gland;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-171.
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-171.
RC TISSUE=Pheochromocytoma;
RA Li Y., Huang Q., Peng Y., Song H., Yu Y., Xu S., Ren S., Chen Z., Han Z.;
RT "A novel gene expressed in human pheochromocytoma.";
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-171.
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT VAL-171.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-171.
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH DDI2, DNA-BINDING, AND
RP PROTEASOME-MEDIATED DEGRADATION.
RX PubMed=29290612; DOI=10.1016/j.molcel.2017.11.035;
RA Kottemann M.C., Conti B.A., Lach F.P., Smogorzewska A.;
RT "Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome
RT Integrity.";
RL Mol. Cell 69:24-35.E5(2018).
CC -!- FUNCTION: Replication termination factor which is a component of the
CC elongating replisome (Probable). Required for ATR pathway signaling
CC upon DNA damage and has a positive activity during DNA replication.
CC Might function to facilitate fork pausing at replication fork barriers
CC like the rDNA. May be globally required to stimulate ATR signaling
CC after the fork stalls or encounters a lesion (Probable). Interacts with
CC nascent DNA (PubMed:29290612). {ECO:0000269|PubMed:29290612,
CC ECO:0000305|PubMed:29290612}.
CC -!- SUBUNIT: Interacts with DDI2; probably also interacts with DDI1.
CC {ECO:0000269|PubMed:29290612}.
CC -!- SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:29290612}.
CC Note=Localizes at the replication fork. {ECO:0000269|PubMed:29290612}.
CC -!- PTM: Undergoes proteasomal degradation, via DDI1 and DDI2. Removal from
CC stalled replisomes and degradation are required for genome stability.
CC {ECO:0000269|PubMed:29290612}.
CC -!- SIMILARITY: Belongs to the rtf2 family. {ECO:0000305}.
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DR EMBL; AF117231; AAF17212.1; -; mRNA.
DR EMBL; AF161513; AAF29128.1; -; mRNA.
DR EMBL; AF161518; AAF29133.1; -; mRNA.
DR EMBL; AF212244; AAK14929.1; -; mRNA.
DR EMBL; AK000481; BAA91193.1; -; mRNA.
DR EMBL; AL109806; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75539.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75540.1; -; Genomic_DNA.
DR EMBL; BC003359; AAH03359.1; -; mRNA.
DR CCDS; CCDS13453.1; -.
DR RefSeq; NP_001269964.1; NM_001283035.1.
DR RefSeq; NP_001269965.1; NM_001283036.1.
DR RefSeq; NP_001269966.1; NM_001283037.1.
DR RefSeq; NP_057491.2; NM_016407.4.
DR AlphaFoldDB; Q9BY42; -.
DR BioGRID; 119578; 65.
DR IntAct; Q9BY42; 14.
DR MINT; Q9BY42; -.
DR STRING; 9606.ENSP00000023939; -.
DR GlyGen; Q9BY42; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BY42; -.
DR PhosphoSitePlus; Q9BY42; -.
DR BioMuta; RTFDC1; -.
DR DMDM; 313104242; -.
DR EPD; Q9BY42; -.
DR jPOST; Q9BY42; -.
DR MassIVE; Q9BY42; -.
DR MaxQB; Q9BY42; -.
DR PaxDb; Q9BY42; -.
DR PeptideAtlas; Q9BY42; -.
DR PRIDE; Q9BY42; -.
DR ProteomicsDB; 79579; -.
DR Antibodypedia; 28888; 163 antibodies from 18 providers.
DR DNASU; 51507; -.
DR Ensembl; ENST00000357348.10; ENSP00000349906.6; ENSG00000022277.13.
DR GeneID; 51507; -.
DR KEGG; hsa:51507; -.
DR MANE-Select; ENST00000357348.10; ENSP00000349906.6; NM_016407.5; NP_057491.2.
DR UCSC; uc002xxt.4; human.
DR CTD; 51507; -.
DR GeneCards; RTF2; -.
DR HGNC; HGNC:15890; RTF2.
DR HPA; ENSG00000022277; Low tissue specificity.
DR neXtProt; NX_Q9BY42; -.
DR OpenTargets; ENSG00000022277; -.
DR PharmGKB; PA25756; -.
DR VEuPathDB; HostDB:ENSG00000022277; -.
DR eggNOG; KOG3113; Eukaryota.
DR GeneTree; ENSGT00390000010923; -.
DR InParanoid; Q9BY42; -.
DR OMA; EVCHKCG; -.
DR OrthoDB; 1385322at2759; -.
DR PhylomeDB; Q9BY42; -.
DR TreeFam; TF314621; -.
DR PathwayCommons; Q9BY42; -.
DR SignaLink; Q9BY42; -.
DR BioGRID-ORCS; 51507; 720 hits in 1088 CRISPR screens.
DR ChiTaRS; RTFDC1; human.
DR GeneWiki; C20orf43; -.
DR GenomeRNAi; 51507; -.
DR Pharos; Q9BY42; Tbio.
DR PRO; PR:Q9BY42; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9BY42; protein.
DR Bgee; ENSG00000022277; Expressed in C1 segment of cervical spinal cord and 203 other tissues.
DR ExpressionAtlas; Q9BY42; baseline and differential.
DR Genevisible; Q9BY42; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005657; C:replication fork; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0072711; P:cellular response to hydroxyurea; IMP:UniProtKB.
DR GO; GO:1902979; P:mitotic DNA replication termination; IEA:InterPro.
DR GO; GO:0097752; P:regulation of DNA stability; IMP:UniProtKB.
DR CDD; cd16653; RING-like_Rtf2; 1.
DR InterPro; IPR006735; Rtf2.
DR InterPro; IPR027799; Rtf2_RING-finger.
DR PANTHER; PTHR12775; PTHR12775; 1.
PE 1: Evidence at protein level;
KW Chromosome; Phosphoprotein; Reference proteome.
FT CHAIN 1..306
FT /note="Replication termination factor 2"
FT /id="PRO_0000079427"
FT REGION 193..276
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 193..210
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 227..241
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 287
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 159
FT /note="T -> A (in dbSNP:rs6024909)"
FT /id="VAR_028134"
FT VARIANT 171
FT /note="M -> V (in dbSNP:rs1059768)"
FT /evidence="ECO:0000269|PubMed:10931946,
FT ECO:0000269|PubMed:11042152, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3,
FT ECO:0000269|Ref.6"
FT /id="VAR_028135"
FT CONFLICT 189
FT /note="R -> G (in Ref. 4; BAA91193)"
FT /evidence="ECO:0000305"
FT CONFLICT 194
FT /note="K -> N (in Ref. 1; AAF17212 and 3; AAK14929)"
FT /evidence="ECO:0000305"
FT CONFLICT 195
FT /note="L -> R (in Ref. 1; AAF17212)"
FT /evidence="ECO:0000305"
FT CONFLICT 195
FT /note="L -> W (in Ref. 3; AAK14929)"
FT /evidence="ECO:0000305"
FT CONFLICT 199
FT /note="T -> P (in Ref. 2; AAF29128)"
FT /evidence="ECO:0000305"
FT CONFLICT 208
FT /note="V -> A (in Ref. 2; AAF29128)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 306 AA; 33887 MW; 41EBAB29F7D535BF CRC64;
MGCDGGTIPK RHELVKGPKK VEKVDKDAEL VAQWNYCTLS QEILRRPIVA CELGRLYNKD
AVIEFLLDKS AEKALGKAAS HIKSIKNVTE LKLSDNPAWE GDKGNTKGDK HDDLQRARFI
CPVVGLEMNG RHRFCFLRCC GCVFSERALK EIKAEVCHTC GAAFQEDDVI MLNGTKEDVD
VLKTRMEERR LRAKLEKKTK KPKAAESVSK PDVSEEAPGP SKVKTGKPEE ASLDSREKKT
NLAPKSTAMN ESSSGKAGKP PCGATKRSIA DSEESEAYKS LFTTHSSAKR SKEESAHWVT
HTSYCF