UTP4_MOUSE
ID UTP4_MOUSE Reviewed; 686 AA.
AC Q8R2N2; Q62306; Q62307; Q69Z48; Q6NVG9; Q8VEL5;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2005, sequence version 3.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=U3 small nucleolar RNA-associated protein 4 homolog;
DE AltName: Full=Cirhin;
DE AltName: Full=Testis-expressed gene 292 protein;
GN Name=Utp4; Synonyms=Cirh1a, Kiaa1988, Tex292;
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 TISSUE=Spleen;
RX PubMed=15368895; DOI=10.1093/dnares/11.3.205;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
RA Saga Y., Seino S., Nishimura M., Kaisho T., Hoshino K., Kitamura H.,
RA Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: IV.
RT The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 11:205-218(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Mammary tumor;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 1-19 AND 643-686, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC STRAIN=SWR/J; TISSUE=Testis;
RX PubMed=8703127; DOI=10.1007/s003359900210;
RA Lopez-Fernandez L.A., del Mazo J.;
RT "Characterization of genes expressed early in mouse spermatogenesis,
RT isolated from a subtractive cDNA library.";
RL Mamm. Genome 7:698-700(1996).
RN [4]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=12417987; DOI=10.1086/344580;
RA Chagnon P., Michaud J., Mitchell G., Mercier J., Marion J.-F., Drouin E.,
RA Rasquin-Weber A., Hudson T.J., Richter A.;
RT "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian
RT childhood cirrhosis.";
RL Am. J. Hum. Genet. 71:1443-1449(2002).
CC -!- FUNCTION: Ribosome biogenesis factor. Involved in nucleolar processing
CC of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA
CC processing at sites A', A0, 1 and 2b. Required for optimal pre-
CC ribosomal RNA transcription by RNA polymerase. May be a transcriptional
CC regulator. Acts as a positive regulator of HIVEP1.
CC {ECO:0000250|UniProtKB:Q969X6}.
CC -!- SUBUNIT: Interacts with HIVEP1. Interacts with NOL11. Interacts
CC directly with UTP15 and WDR43. May be a component of the proposed t-UTP
CC subcomplex of the ribosomal small subunit (SSU) processome containing
CC at least UTP4, WDR43, HEATR1, UTP15, WDR75.
CC {ECO:0000250|UniProtKB:Q969X6}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus
CC {ECO:0000250|UniProtKB:Q969X6}. Chromosome
CC {ECO:0000250|UniProtKB:Q969X6}. Note=Found predominantly at the
CC fibrillar center. {ECO:0000250|UniProtKB:Q969X6}.
CC -!- TISSUE SPECIFICITY: Expressed in liver. {ECO:0000269|PubMed:12417987,
CC ECO:0000269|PubMed:8703127}.
CC -!- DEVELOPMENTAL STAGE: In 11.5 day embryos, highly and predominantly
CC expressed in liver, with lower expression in somites, brain and
CC craniofacial structures. Expression significantly decreases in 12.5 day
CC embryos and in the newborn. {ECO:0000269|PubMed:12417987,
CC ECO:0000269|PubMed:8703127}.
CC -!- PTM: May be phosphorylated during mitosis; may control the association
CC of this protein with WRD43 and UTP15. {ECO:0000250|UniProtKB:Q969X6}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH27399.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAD32596.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAA56628.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAA56629.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAA56629.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK173318; BAD32596.1; ALT_INIT; mRNA.
DR EMBL; BC018262; AAH18262.1; -; mRNA.
DR EMBL; BC027399; AAH27399.1; ALT_INIT; mRNA.
DR EMBL; BC068113; AAH68113.1; -; mRNA.
DR EMBL; X80433; CAA56628.1; ALT_FRAME; mRNA.
DR EMBL; X80434; CAA56629.1; ALT_SEQ; mRNA.
DR CCDS; CCDS52664.1; -.
DR PIR; S46930; S46930.
DR RefSeq; NP_035704.2; NM_011574.2.
DR RefSeq; XP_006530905.1; XM_006530842.3.
DR AlphaFoldDB; Q8R2N2; -.
DR SMR; Q8R2N2; -.
DR BioGRID; 204134; 1.
DR IntAct; Q8R2N2; 1.
DR STRING; 10090.ENSMUSP00000048377; -.
DR iPTMnet; Q8R2N2; -.
DR PhosphoSitePlus; Q8R2N2; -.
DR SwissPalm; Q8R2N2; -.
DR EPD; Q8R2N2; -.
DR MaxQB; Q8R2N2; -.
DR PaxDb; Q8R2N2; -.
DR PeptideAtlas; Q8R2N2; -.
DR PRIDE; Q8R2N2; -.
DR ProteomicsDB; 275399; -.
DR Antibodypedia; 29826; 123 antibodies from 21 providers.
DR DNASU; 21771; -.
DR Ensembl; ENSMUST00000047629; ENSMUSP00000048377; ENSMUSG00000041438.
DR GeneID; 21771; -.
DR KEGG; mmu:21771; -.
DR UCSC; uc009ngr.2; mouse.
DR CTD; 84916; -.
DR MGI; MGI:1096573; Utp4.
DR VEuPathDB; HostDB:ENSMUSG00000041438; -.
DR eggNOG; KOG2048; Eukaryota.
DR GeneTree; ENSGT00940000153533; -.
DR HOGENOM; CLU_002392_3_0_1; -.
DR InParanoid; Q8R2N2; -.
DR OMA; PDANWIC; -.
DR OrthoDB; 376282at2759; -.
DR PhylomeDB; Q8R2N2; -.
DR TreeFam; TF313159; -.
DR Reactome; R-MMU-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR BioGRID-ORCS; 21771; 27 hits in 72 CRISPR screens.
DR ChiTaRS; Cirh1a; mouse.
DR PRO; PR:Q8R2N2; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q8R2N2; protein.
DR Bgee; ENSMUSG00000041438; Expressed in primary oocyte and 259 other tissues.
DR ExpressionAtlas; Q8R2N2; baseline and differential.
DR Genevisible; Q8R2N2; MM.
DR GO; GO:0030686; C:90S preribosome; IBA:GO_Central.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0001650; C:fibrillar center; ISS:UniProtKB.
DR GO; GO:0005730; C:nucleolus; ISS:UniProtKB.
DR GO; GO:0032040; C:small-subunit processome; IBA:GO_Central.
DR GO; GO:0034455; C:t-UTP complex; ISS:UniProtKB.
DR GO; GO:0030490; P:maturation of SSU-rRNA; ISS:UniProtKB.
DR GO; GO:0000462; P:maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; ISO:MGI.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR046351; UTP4.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR44163; PTHR44163; 1.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 10.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Chromosome; Isopeptide bond; Nucleus; Phosphoprotein; Reference proteome;
KW Repeat; Ribosome biogenesis; rRNA processing; Transcription;
KW Transcription regulation; Ubl conjugation; WD repeat.
FT CHAIN 1..686
FT /note="U3 small nucleolar RNA-associated protein 4 homolog"
FT /id="PRO_0000050909"
FT REPEAT 14..53
FT /note="WD 1"
FT REPEAT 57..96
FT /note="WD 2"
FT REPEAT 99..138
FT /note="WD 3"
FT REPEAT 143..181
FT /note="WD 4"
FT REPEAT 193..231
FT /note="WD 5"
FT REPEAT 234..273
FT /note="WD 6"
FT REPEAT 285..322
FT /note="WD 7"
FT REPEAT 324..359
FT /note="WD 8"
FT REPEAT 435..474
FT /note="WD 9"
FT REPEAT 482..521
FT /note="WD 10"
FT REPEAT 524..563
FT /note="WD 11"
FT CROSSLNK 321
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0000250|UniProtKB:Q969X6"
SQ SEQUENCE 686 AA; 76909 MW; E927C1338E948BD7 CRC64;
MGEFKVHRVR FFNYVPSGIR CVAYNNQSNR LAVSRTDGTV EIYNLSANYF QEKFFPGHES
RGTEALCWAG GQRLFSAGLN GEILEYDLQA LNIKYTLDAF GGPIWSMTAS PSGSQLLVGC
EDGSVKLFEV TPEKIQFARN FDRQKSRILS LCWHPAGTHV AAGSLDYISV FDVKSGSIIR
KMVLDRQHLG VTKSRCIVWG VAFLSDGTVI SVDSVGKVQL WDSATGTLVK SHLVANADVQ
SIAVADQEDS FVVGTAEGTV FHFQLVSMTS NSSEKQWVRT KPFQHHTHDV RAVAHSPTAL
ISGGTDTHLV IRPLMERVEV KNYDAALRKI TFPHRRLISC SKRRQLLLFQ FAHHLELWRL
GSTSATGKNG DTLPLSKNAD HLLHLKTKGP ENIICSCVSP CGSWIAYSTA SRFFLYRLKY
ERDNISLQRV SKLPSFLRSA LHILFSEDST KLLVASNQGS LHIVHLSEGS FKHLHTFQPQ
SGTVEAMCLL AVSPDGNWLA ASGTSAGVHV YDLHHLKLHC TVPAYNFPVT ALAIAPNTNN
LVIAHSDQQV FEFSIPEKQY TEWSRSLQKQ GFHQLWLQRD TPITHISFHP KRPMHILLHD
AYMFCIIDKS LPLPNEKTVL YNPLPPKNES DVFLRRTTHG FKMSKIYKPL LFMDLLDERT
LVAVERPLDD IIAQLPPPIK KKKFGT
