PRP17_MOUSE
ID PRP17_MOUSE Reviewed; 579 AA.
AC Q9DC48; B2RY33;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Pre-mRNA-processing factor 17;
DE AltName: Full=Cell division cycle 40 homolog;
DE AltName: Full=PRP17 homolog;
GN Name=Cdc40; Synonyms=Prp17, Prpf17;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Lung;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [3]
RP FUNCTION, AND MUTAGENESIS OF PRO-95.
RX PubMed=33220177; DOI=10.1016/j.neuron.2020.10.035;
RA Chai G., Webb A., Li C., Antaki D., Lee S., Breuss M.W., Lang N.,
RA Stanley V., Anzenberg P., Yang X., Marshall T., Gaffney P., Wierenga K.J.,
RA Chung B.H., Tsang M.H., Pais L.S., Lovgren A.K., VanNoy G.E., Rehm H.L.,
RA Mirzaa G., Leon E., Diaz J., Neumann A., Kalverda A.P., Manfield I.W.,
RA Parry D.A., Logan C.V., Johnson C.A., Bonthron D.T., Valleley E.M.A.,
RA Issa M.Y., Abdel-Ghafar S.F., Abdel-Hamid M.S., Jennings P., Zaki M.S.,
RA Sheridan E., Gleeson J.G.;
RT "Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative
RT Pontocerebellar Hypoplasia with Microcephaly.";
RL Neuron 109:241-256(2021).
CC -!- FUNCTION: Required for pre-mRNA splicing as component of the activated
CC spliceosome (By similarity). Plays an important role in embryonic brain
CC development; this function does not require proline peptide bond
CC isomerization (PubMed:33220177). {ECO:0000250|UniProtKB:O60508,
CC ECO:0000269|PubMed:33220177}.
CC -!- SUBUNIT: Component of the catalytic spliceosome C complexes. Component
CC of the postcatalytic spliceosome P complex (By similarity). Interacts
CC with PPIL1; this interaction leads to CDC40 isomerization (By
CC similarity). {ECO:0000250|UniProtKB:O60508}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O60508}. Nucleus
CC speckle {ECO:0000250|UniProtKB:O60508}.
CC -!- PTM: Undergoes isomerization of the peptide bond between Gly-94 and
CC Pro-95. The reaction is catalyzed by PPIL1.
CC {ECO:0000269|PubMed:33220177}.
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DR EMBL; AK004569; BAB23380.1; -; mRNA.
DR EMBL; BC147503; AAI47504.1; -; mRNA.
DR EMBL; BC158078; AAI58079.1; -; mRNA.
DR CCDS; CCDS48546.1; -.
DR RefSeq; NP_082155.1; NM_027879.2.
DR AlphaFoldDB; Q9DC48; -.
DR SMR; Q9DC48; -.
DR BioGRID; 214875; 2.
DR STRING; 10090.ENSMUSP00000044305; -.
DR PhosphoSitePlus; Q9DC48; -.
DR CPTAC; non-CPTAC-3855; -.
DR EPD; Q9DC48; -.
DR MaxQB; Q9DC48; -.
DR PaxDb; Q9DC48; -.
DR PeptideAtlas; Q9DC48; -.
DR PRIDE; Q9DC48; -.
DR ProteomicsDB; 291663; -.
DR Antibodypedia; 32306; 151 antibodies from 27 providers.
DR Ensembl; ENSMUST00000044166; ENSMUSP00000044305; ENSMUSG00000038446.
DR GeneID; 71713; -.
DR KEGG; mmu:71713; -.
DR UCSC; uc007exe.3; mouse.
DR CTD; 51362; -.
DR MGI; MGI:1918963; Cdc40.
DR VEuPathDB; HostDB:ENSMUSG00000038446; -.
DR eggNOG; KOG0282; Eukaryota.
DR GeneTree; ENSGT00530000063583; -.
DR HOGENOM; CLU_022571_2_1_1; -.
DR InParanoid; Q9DC48; -.
DR OMA; HKIQAGG; -.
DR OrthoDB; 967109at2759; -.
DR PhylomeDB; Q9DC48; -.
DR TreeFam; TF101064; -.
DR Reactome; R-MMU-159236; Transport of Mature mRNA derived from an Intron-Containing Transcript.
DR Reactome; R-MMU-72163; mRNA Splicing - Major Pathway.
DR Reactome; R-MMU-72187; mRNA 3'-end processing.
DR Reactome; R-MMU-73856; RNA Polymerase II Transcription Termination.
DR BioGRID-ORCS; 71713; 17 hits in 72 CRISPR screens.
DR ChiTaRS; Cdc40; mouse.
DR PRO; PR:Q9DC48; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q9DC48; protein.
DR Bgee; ENSMUSG00000038446; Expressed in manus and 231 other tissues.
DR Genevisible; Q9DC48; MM.
DR GO; GO:0071013; C:catalytic step 2 spliceosome; ISO:MGI.
DR GO; GO:0016607; C:nuclear speck; ISS:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0071007; C:U2-type catalytic step 2 spliceosome; ISS:UniProtKB.
DR GO; GO:0003729; F:mRNA binding; IBA:GO_Central.
DR GO; GO:1990403; P:embryonic brain development; ISS:UniProtKB.
DR GO; GO:0000398; P:mRNA splicing, via spliceosome; ISS:UniProtKB.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR032847; PRPF17.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR43979; PTHR43979; 1.
DR Pfam; PF00400; WD40; 5.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW mRNA processing; mRNA splicing; Nucleus; Reference proteome; Repeat;
KW Spliceosome; WD repeat.
FT CHAIN 1..579
FT /note="Pre-mRNA-processing factor 17"
FT /id="PRO_0000051143"
FT REPEAT 286..326
FT /note="WD 1"
FT REPEAT 330..369
FT /note="WD 2"
FT REPEAT 371..413
FT /note="WD 3"
FT REPEAT 416..455
FT /note="WD 4"
FT REPEAT 459..498
FT /note="WD 5"
FT REPEAT 504..545
FT /note="WD 6"
FT REPEAT 548..578
FT /note="WD 7"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 204..237
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 95
FT /note="P->A: Loss of proline isomerization; no phenotype
FT when introduced in mice, animals are viable and fertile
FT with no microcephaly or defective cortical lamination; no
FT splicing defect."
FT /evidence="ECO:0000269|PubMed:33220177"
SQ SEQUENCE 579 AA; 65461 MW; 422A5FEB8D9CE2C7 CRC64;
MSAAIAALAA SYGSGSGSES DSDSEGSRCP LPAADSLMHL TKSPSAKLSL TVAVDSAPEV
AVKEDLETGV HLDPAVKEVQ YNPTYETMFA PEFGPENPFR TQQMAAPRNM LSGYAEPAHI
NDFMFEQQRR TFATYGYALD PSLDNHQVSA KYIGSVEEAE KNQGLTVFET GQKKTEKRKK
FKENDASNID GFLGPWAKYV DEKDVAKPSE EEQKELDEIT AKRQKKGKQE EEKPGEEKTI
LHVKEMYDYQ GRSYLHIPQD VGVNLRSSVP PEKCYLPKKQ IHVWSGHTKG VSAVRLFPLS
GHLLLSCSMD CKIKLWEVYG DRRCLRTFIG HSKAVRDICF NTAGTQFLSA AYDRYLKLWD
TETGQCISRF TNRKVPYCVK FNPDEDKQNL FVAGMSDKKI VQWDIRSGEI VQEYDRHLGA
VNTIVFVDEN RRFVSTSDDK SLRVWEWDIP VDFKYIAEPS MHSMPAVTLS PNGKWLACQS
MDNQILIFGA QNRFRLNKKK IFKGHMVAGY ACQVDFSPDM SYVISGDGNG KLNIWDWKTT
KLYSRFKAHD KVCIGAVWHP HETSKVITCG WDGLIKLWD
