PRP39_HUMAN
ID PRP39_HUMAN Reviewed; 669 AA.
AC Q86UA1; Q08AL1; Q08AL2; Q9NUU5;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 3.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Pre-mRNA-processing factor 39;
DE AltName: Full=PRP39 homolog;
GN Name=PRPF39;
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] (ISOFORM 2).
RC TISSUE=Placenta;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Uterus;
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 [4]
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 [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-44, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Involved in pre-mRNA splicing. {ECO:0000250}.
CC -!- INTERACTION:
CC Q86UA1; Q86V38: ATN1; NbExp=3; IntAct=EBI-2803203, EBI-11954292;
CC Q86UA1; P28329-3: CHAT; NbExp=3; IntAct=EBI-2803203, EBI-25837549;
CC Q86UA1; P22607: FGFR3; NbExp=3; IntAct=EBI-2803203, EBI-348399;
CC Q86UA1; Q92876: KLK6; NbExp=3; IntAct=EBI-2803203, EBI-2432309;
CC Q86UA1; Q16637: SMN2; NbExp=3; IntAct=EBI-2803203, EBI-395421;
CC Q86UA1; Q9H0E2: TOLLIP; NbExp=3; IntAct=EBI-2803203, EBI-74615;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86UA1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86UA1-2; Sequence=VSP_021496, VSP_021497;
CC -!- SIMILARITY: Belongs to the PRP39 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI25127.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI25128.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK001990; BAA92024.1; -; mRNA.
DR EMBL; AL121809; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC051886; AAH51886.1; -; mRNA.
DR EMBL; BC125126; AAI25127.1; ALT_INIT; mRNA.
DR EMBL; BC125127; AAI25128.1; ALT_INIT; mRNA.
DR CCDS; CCDS9682.2; -. [Q86UA1-1]
DR RefSeq; NP_060392.3; NM_017922.3. [Q86UA1-1]
DR AlphaFoldDB; Q86UA1; -.
DR SMR; Q86UA1; -.
DR BioGRID; 120347; 41.
DR IntAct; Q86UA1; 31.
DR MINT; Q86UA1; -.
DR STRING; 9606.ENSP00000348010; -.
DR GlyGen; Q86UA1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q86UA1; -.
DR PhosphoSitePlus; Q86UA1; -.
DR BioMuta; PRPF39; -.
DR DMDM; 223590245; -.
DR EPD; Q86UA1; -.
DR jPOST; Q86UA1; -.
DR MassIVE; Q86UA1; -.
DR MaxQB; Q86UA1; -.
DR PaxDb; Q86UA1; -.
DR PeptideAtlas; Q86UA1; -.
DR PRIDE; Q86UA1; -.
DR ProteomicsDB; 69784; -. [Q86UA1-1]
DR ProteomicsDB; 69785; -. [Q86UA1-2]
DR Antibodypedia; 101; 144 antibodies from 26 providers.
DR DNASU; 55015; -.
DR Ensembl; ENST00000355765.11; ENSP00000348010.6; ENSG00000185246.18. [Q86UA1-1]
DR GeneID; 55015; -.
DR KEGG; hsa:55015; -.
DR MANE-Select; ENST00000355765.11; ENSP00000348010.6; NM_017922.4; NP_060392.3.
DR UCSC; uc001wvz.4; human. [Q86UA1-1]
DR CTD; 55015; -.
DR GeneCards; PRPF39; -.
DR HGNC; HGNC:20314; PRPF39.
DR HPA; ENSG00000185246; Low tissue specificity.
DR MIM; 614907; gene.
DR neXtProt; NX_Q86UA1; -.
DR OpenTargets; ENSG00000185246; -.
DR PharmGKB; PA142671127; -.
DR VEuPathDB; HostDB:ENSG00000185246; -.
DR eggNOG; KOG1258; Eukaryota.
DR GeneTree; ENSGT00390000005033; -.
DR HOGENOM; CLU_007434_2_0_1; -.
DR InParanoid; Q86UA1; -.
DR OMA; NYCAFKV; -.
DR OrthoDB; 887474at2759; -.
DR PhylomeDB; Q86UA1; -.
DR TreeFam; TF314746; -.
DR PathwayCommons; Q86UA1; -.
DR SignaLink; Q86UA1; -.
DR BioGRID-ORCS; 55015; 291 hits in 1099 CRISPR screens.
DR ChiTaRS; PRPF39; human.
DR GenomeRNAi; 55015; -.
DR Pharos; Q86UA1; Tbio.
DR PRO; PR:Q86UA1; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q86UA1; protein.
DR Bgee; ENSG00000185246; Expressed in cerebellar hemisphere and 191 other tissues.
DR ExpressionAtlas; Q86UA1; baseline and differential.
DR Genevisible; Q86UA1; HS.
DR GO; GO:0000243; C:commitment complex; IBA:GO_Central.
DR GO; GO:0005685; C:U1 snRNP; IBA:GO_Central.
DR GO; GO:0071004; C:U2-type prespliceosome; IBA:GO_Central.
DR GO; GO:0000395; P:mRNA 5'-splice site recognition; IBA:GO_Central.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR003107; HAT.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR SMART; SM00386; HAT; 7.
DR SUPFAM; SSF48452; SSF48452; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; mRNA processing; mRNA splicing; Nucleus;
KW Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..669
FT /note="Pre-mRNA-processing factor 39"
FT /id="PRO_0000259648"
FT REPEAT 109..141
FT /note="HAT 1"
FT REPEAT 143..175
FT /note="HAT 2"
FT REPEAT 183..218
FT /note="HAT 3"
FT REPEAT 220..253
FT /note="HAT 4"
FT REPEAT 333..365
FT /note="HAT 5"
FT REPEAT 367..399
FT /note="HAT 6"
FT REPEAT 404..436
FT /note="HAT 7"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 599..634
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 599..624
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 44
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT VAR_SEQ 1..396
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021496"
FT VAR_SEQ 652..669
FT /note="YNYQNPWNYGQYYPPPPT -> VSLHNYNSLFIDVISIN (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021497"
FT CONFLICT 312
FT /note="R -> G (in Ref. 3; AAI25128)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 669 AA; 78430 MW; 6213DEF58C536744 CRC64;
MQNSHMDEYR NSSNGSTGNS SEVVVEHPTD FSTEIMNVTE MEQSPDDSPN VNASTEETEM
ASAVDLPVTL TETEANFPPE YEKFWKTVEN NPQDFTGWVY LLQYVEQENH LMAARKAFDR
FFIHYPYCYG YWKKYADLEK RHDNIKPSDE VYRRGLQAIP LSVDLWIHYI NFLKETLDPG
DPETNNTIRG TFEHAVLAAG TDFRSDRLWE MYINWENEQG NLREVTAIYD RILGIPTQLY
SHHFQRFKEH VQNNLPRDLL TGEQFIQLRR ELASVNGHSG DDGPPGDDLP SGIEDITDPA
KLITEIENMR HRIIEIHQEM FNYNEHEVSK RWTFEEGIKR PYFHVKPLEK AQLKNWKEYL
EFEIENGTHE RVVVLFERCV ISCALYEEFW IKYAKYMENH SIEGVRHVFS RACTIHLPKK
PMVHMLWAAF EEQQGNINEA RNILKTFEEC VLGLAMVRLR RVSLERRHGN LEEAEHLLQD
AIKNAKSNNE SSFYAVKLAR HLFKIQKNLP KSRKVLLEAI ERDKENTKLY LNLLEMEYSG
DLKQNEENIL NCFDKAVHGS LPIKMRITFS QRKVEFLEDF GSDVNKLLNA YDEHQTLLKE
QDSLKRKAEN GSEEPEEKKA HTEDTTSSST QMIDGDLQAN QAVYNYSAWY QYNYQNPWNY
GQYYPPPPT
