PIRC1_MOUSE
ID PIRC1_MOUSE Reviewed; 167 AA.
AC Q5BN45;
DT 20-JAN-2009, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 1.
DT 03-AUG-2022, entry version 92.
DE RecName: Full=Piercer of microtubule wall 1 protein;
DE Short=Pierce1;
DE AltName: Full=p53-induced expression in RB-null cells protein 1;
GN Name=Pierce1;
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 [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=18182857;
RA Sung Y.H., Kim H.J., Lee H.W.;
RT "Identification of a novel Rb-regulated gene associated with the cell
RT cycle.";
RL Mol. Cells 24:409-415(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 INDUCTION BY TP53.
RX PubMed=21159655; DOI=10.1158/0008-5472.can-10-0031;
RA Sung Y.H., Kim H.J., Devkota S., Roh J., Lee J., Rhee K., Bahk Y.Y.,
RA Lee H.W.;
RT "Pierce1, a novel p53 target gene contributing to the ultraviolet-induced
RT DNA damage response.";
RL Cancer Res. 70:10454-10463(2010).
RN [5]
RP FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
RX PubMed=27305836; DOI=10.1038/srep27932;
RA Sung Y.H., Baek I.J., Kim Y.H., Gho Y.S., Oh S.P., Lee Y.J., Lee H.W.;
RT "PIERCE1 is critical for specification of left-right asymmetry in mice.";
RL Sci. Rep. 6:27932-27932(2016).
RN [6]
RP DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=34715025; DOI=10.1016/j.cell.2021.10.007;
RA Gui M., Farley H., Anujan P., Anderson J.R., Maxwell D.W., Whitchurch J.B.,
RA Botsch J.J., Qiu T., Meleppattu S., Singh S.K., Zhang Q., Thompson J.,
RA Lucas J.S., Bingle C.D., Norris D.P., Roy S., Brown A.;
RT "De novo identification of mammalian ciliary motility proteins using cryo-
RT EM.";
RL Cell 184:5791-5806.e19(2021).
CC -!- FUNCTION: Microtubule inner protein involved in the attachment of outer
CC dynein arms (ODAs) to dynein-decorated doublet microtubules (DMTs) in
CC cilia axoneme (PubMed:34715025). Functions at the initial step of left-
CC right asymmetry specification of the visceral organs (PubMed:27305836).
CC {ECO:0000269|PubMed:27305836, ECO:0000269|PubMed:34715025}.
CC -!- SUBUNIT: Interacts with CFAP53, ODAD1 and ODAD3; the interactions link
CC the outer dynein arms docking complex (ODA-DC) to the internal
CC microtubule inner proteins (MIP) in cilium axoneme.
CC {ECO:0000250|UniProtKB:Q32P67}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q32P67}.
CC -!- TISSUE SPECIFICITY: Expressed in brain, lung, kidney and testis.
CC {ECO:0000269|PubMed:18182857, ECO:0000269|PubMed:27305836}.
CC -!- DEVELOPMENTAL STAGE: At 8 dpc, strongly expressed in the node area
CC (PubMed:27305836). May be up-regulated during progression from G1 to S
CC phase of the cell cycle. Maximal expression in S or G2 phase.
CC {ECO:0000269|PubMed:18182857, ECO:0000269|PubMed:27305836}.
CC -!- INDUCTION: By p53/TP53. Protein levels are stabilized following gamma-
CC irradiation. {ECO:0000269|PubMed:21159655}.
CC -!- DISRUPTION PHENOTYPE: Mutant mice exhibit severe laterality defects,
CC including situs inversus totalis and heterotaxy with randomized situs
CC and left and right isomerisms (PubMed:27305836, PubMed:34715025). They
CC show partial embryonic lethality associated with heterotaxia
CC (PubMed:27305836, PubMed:34715025). The motility of tracheal cilia in
CC adult mice is also affected (PubMed:34715025). At 8 dpc, they have a
CC reduced beat frequency of nodal cilia (PubMed:34715025). 50% of
CC tracheal cilia axonemes have missing dynein arms (PubMed:34715025).
CC Double PIERCE1 and PIERCE2 mutants show high levels of embryonic and
CC pre-weaning lethality. The few mice that survive birth display
CC hydrocephalus and laterality abnormalities, dying by 20 days of age
CC (PubMed:34715025). {ECO:0000269|PubMed:27305836,
CC ECO:0000269|PubMed:34715025}.
CC -!- SIMILARITY: Belongs to the PIERCE1 family. {ECO:0000305}.
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DR EMBL; AY927869; AAX22218.1; -; mRNA.
DR EMBL; AL772249; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC099566; AAH99566.1; -; mRNA.
DR CCDS; CCDS15837.1; -.
DR RefSeq; NP_081316.1; NM_027040.1.
DR AlphaFoldDB; Q5BN45; -.
DR STRING; 10090.ENSMUSP00000083557; -.
DR PhosphoSitePlus; Q5BN45; -.
DR PaxDb; Q5BN45; -.
DR PRIDE; Q5BN45; -.
DR Antibodypedia; 18585; 56 antibodies from 19 providers.
DR Ensembl; ENSMUST00000086370; ENSMUSP00000083557; ENSMUSG00000026831.
DR GeneID; 69327; -.
DR KEGG; mmu:69327; -.
DR UCSC; uc008iyf.1; mouse.
DR CTD; 138162; -.
DR MGI; MGI:1916577; 1700007K13Rik.
DR VEuPathDB; HostDB:ENSMUSG00000026831; -.
DR eggNOG; ENOG502S22V; Eukaryota.
DR GeneTree; ENSGT00940000154745; -.
DR HOGENOM; CLU_135708_0_0_1; -.
DR InParanoid; Q5BN45; -.
DR OMA; DYYRVSE; -.
DR OrthoDB; 1574929at2759; -.
DR PhylomeDB; Q5BN45; -.
DR TreeFam; TF323876; -.
DR BioGRID-ORCS; 69327; 2 hits in 74 CRISPR screens.
DR PRO; PR:Q5BN45; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q5BN45; protein.
DR Bgee; ENSMUSG00000026831; Expressed in seminiferous tubule of testis and 90 other tissues.
DR ExpressionAtlas; Q5BN45; baseline and differential.
DR Genevisible; Q5BN45; MM.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; IMP:UniProtKB.
DR GO; GO:0006974; P:cellular response to DNA damage stimulus; IMP:MGI.
DR GO; GO:0071494; P:cellular response to UV-C; IMP:MGI.
DR GO; GO:0003341; P:cilium movement; IMP:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:UniProtKB.
DR GO; GO:0061966; P:establishment of left/right asymmetry; IMP:UniProtKB.
DR GO; GO:0010468; P:regulation of gene expression; IMP:MGI.
DR InterPro; IPR026507; UPF0691.
DR PANTHER; PTHR20899; PTHR20899; 1.
DR Pfam; PF14892; DUF4490; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..167
FT /note="Piercer of microtubule wall 1 protein"
FT /id="PRO_0000359780"
FT REGION 1..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 167 AA; 18836 MW; F7E13916A1ACEC9B CRC64;
MSEEKPQQSA EEPEPGEPKA KPAPEEPEPG EPKAKPAPEE PEPGEPKAKP APEKTSDYYR
ISEKLPVRFN NPGWFHGYGT KEAVSMYRTS NQTYGSRAPT VHEMPKVFYP SSNKFSRQHA
AFGMFQSHNI NVTLEKSLVT GPDNHITHYD RLNFHPSYNV NRPSICD
