RPF1_HUMAN
ID RPF1_HUMAN Reviewed; 349 AA.
AC Q9H9Y2; Q5VSK7; Q6AHX1; Q8WXZ8;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Ribosome production factor 1;
DE AltName: Full=Brix domain-containing protein 5;
DE AltName: Full=Ribosome biogenesis protein RPF1;
GN Name=RPF1; Synonyms=BXDC5;
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 [MRNA], AND FUNCTION.
RX PubMed=11864606; DOI=10.1016/s1097-2765(02)00438-0;
RA Wehner K.A., Baserga S.J.;
RT "The sigma(70)-like motif: a eukaryotic RNA binding domain unique to a
RT superfamily of proteins required for ribosome biogenesis.";
RL Mol. Cell 9:329-339(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLY-9.
RC TISSUE=Teratocarcinoma;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLY-9.
RC TISSUE=B-cell;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 94-349.
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=12429849; DOI=10.1091/mbc.e02-05-0271;
RA Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA Greco A., Hochstrasser D.F., Diaz J.-J.;
RT "Functional proteomic analysis of human nucleolus.";
RL Mol. Biol. Cell 13:4100-4109(2002).
CC -!- FUNCTION: May be required for ribosome biogenesis.
CC {ECO:0000269|PubMed:11864606}.
CC -!- INTERACTION:
CC Q9H9Y2; P60409: KRTAP10-7; NbExp=4; IntAct=EBI-9996007, EBI-10172290;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
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DR EMBL; AF322053; AAL37236.1; -; mRNA.
DR EMBL; AK022537; BAB14086.1; -; mRNA.
DR EMBL; AL359762; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL844170; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC016051; AAH16051.1; -; mRNA.
DR EMBL; CR627468; CAH10670.1; -; mRNA.
DR EMBL; AL359584; CAH10671.1; -; mRNA.
DR CCDS; CCDS695.1; -.
DR PIR; T50616; T50616.
DR RefSeq; NP_079341.2; NM_025065.6.
DR AlphaFoldDB; Q9H9Y2; -.
DR SMR; Q9H9Y2; -.
DR BioGRID; 123133; 152.
DR IntAct; Q9H9Y2; 43.
DR STRING; 9606.ENSP00000359688; -.
DR iPTMnet; Q9H9Y2; -.
DR PhosphoSitePlus; Q9H9Y2; -.
DR BioMuta; RPF1; -.
DR DMDM; 71153718; -.
DR SWISS-2DPAGE; Q9H9Y2; -.
DR EPD; Q9H9Y2; -.
DR jPOST; Q9H9Y2; -.
DR MassIVE; Q9H9Y2; -.
DR MaxQB; Q9H9Y2; -.
DR PaxDb; Q9H9Y2; -.
DR PeptideAtlas; Q9H9Y2; -.
DR PRIDE; Q9H9Y2; -.
DR ProteomicsDB; 81367; -.
DR Antibodypedia; 19767; 42 antibodies from 18 providers.
DR DNASU; 80135; -.
DR Ensembl; ENST00000370654.6; ENSP00000359688.5; ENSG00000117133.11.
DR GeneID; 80135; -.
DR KEGG; hsa:80135; -.
DR MANE-Select; ENST00000370654.6; ENSP00000359688.5; NM_025065.7; NP_079341.2.
DR UCSC; uc001djv.5; human.
DR CTD; 80135; -.
DR DisGeNET; 80135; -.
DR GeneCards; RPF1; -.
DR HGNC; HGNC:30350; RPF1.
DR HPA; ENSG00000117133; Low tissue specificity.
DR neXtProt; NX_Q9H9Y2; -.
DR OpenTargets; ENSG00000117133; -.
DR PharmGKB; PA165752348; -.
DR VEuPathDB; HostDB:ENSG00000117133; -.
DR eggNOG; KOG2780; Eukaryota.
DR GeneTree; ENSGT00940000153231; -.
DR HOGENOM; CLU_040063_1_0_1; -.
DR InParanoid; Q9H9Y2; -.
DR OMA; WIISNKR; -.
DR OrthoDB; 768872at2759; -.
DR PhylomeDB; Q9H9Y2; -.
DR TreeFam; TF105897; -.
DR PathwayCommons; Q9H9Y2; -.
DR SignaLink; Q9H9Y2; -.
DR BioGRID-ORCS; 80135; 668 hits in 1080 CRISPR screens.
DR ChiTaRS; RPF1; human.
DR GenomeRNAi; 80135; -.
DR Pharos; Q9H9Y2; Tdark.
DR PRO; PR:Q9H9Y2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9H9Y2; protein.
DR Bgee; ENSG00000117133; Expressed in mucosa of sigmoid colon and 207 other tissues.
DR ExpressionAtlas; Q9H9Y2; baseline and differential.
DR Genevisible; Q9H9Y2; HS.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0030687; C:preribosome, large subunit precursor; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; IDA:UniProtKB.
DR GO; GO:0042134; F:rRNA primary transcript binding; IEA:InterPro.
DR GO; GO:0000460; P:maturation of 5.8S rRNA; IBA:GO_Central.
DR GO; GO:0000470; P:maturation of LSU-rRNA; IBA:GO_Central.
DR GO; GO:0006364; P:rRNA processing; IBA:GO_Central.
DR InterPro; IPR007109; Brix.
DR InterPro; IPR044281; IMP4/RPF1.
DR PANTHER; PTHR22734; PTHR22734; 1.
DR Pfam; PF04427; Brix; 1.
DR SMART; SM00879; Brix; 1.
DR PROSITE; PS50833; BRIX; 1.
PE 1: Evidence at protein level;
KW Nucleus; Reference proteome; Ribosome biogenesis; RNA-binding;
KW rRNA processing; rRNA-binding.
FT CHAIN 1..349
FT /note="Ribosome production factor 1"
FT /id="PRO_0000120248"
FT DOMAIN 142..325
FT /note="Brix"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00034"
FT REGION 1..105
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 303..320
FT /note="RNA-binding"
FT /evidence="ECO:0000250"
FT COMPBIAS 10..24
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 9
FT /note="S -> G (in dbSNP:rs2292191)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022871"
FT VARIANT 223
FT /note="M -> I (in dbSNP:rs7528067)"
FT /id="VAR_048421"
SQ SEQUENCE 349 AA; 40111 MW; F939904B3AB79890 CRC64;
MAKAGDKSSS SGKKSLKRKA AAEELQEAAG AGDGATENGV QPPKAAAFPP GFSISEIKNK
QRRHLMFTRW KQQQRKEKLA AKKKLKKERE ALGDKAPPKP VPKTIDNQRV YDETTVDPND
EEVAYDEATD EFASYFNKQT SPKILITTSD RPHGRTVRLC EQLSTVIPNS HVYYRRGLAL
KKIIPQCIAR DFTDLIVINE DRKTPNGLIL SHLPNGPTAH FKMSSVRLRK EIKRRGKDPT
EHIPEIILNN FTTRLGHSIG RMFASLFPHN PQFIGRQVAT FHNQRDYIFF RFHRYIFRSE
KKVGIQELGP RFTLKLRSLQ KGTFDSKYGE YEWVHKPREM DTSRRKFHL
