PIRC1_HUMAN
ID PIRC1_HUMAN Reviewed; 136 AA.
AC Q5BN46; Q5T897; Q8WU44;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Piercer of microtubule wall 1 protein {ECO:0000305};
DE Short=Pierce1;
DE AltName: Full=UPF0691 protein C9orf116;
DE AltName: Full=p53-induced expression in RB-null cells protein 1;
GN Name=PIERCE1 {ECO:0000312|HGNC:HGNC:28435};
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] (ISOFORM 1), 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].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
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, which is required for motile cilia beating. Functions at
CC the initial step of left-right asymmetry specification of the visceral
CC organs. {ECO:0000250|UniProtKB:Q5BN45}.
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 -!- INTERACTION:
CC Q5BN46; Q13643: FHL3; NbExp=3; IntAct=EBI-10243636, EBI-741101;
CC Q5BN46-2; Q13643: FHL3; NbExp=3; IntAct=EBI-12305735, EBI-741101;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q32P67}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5BN46-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5BN46-2; Sequence=VSP_014466, VSP_014467;
CC -!- DEVELOPMENTAL STAGE: May be up-regulated during progression from G1 to
CC S phase of the cell cycle. Maximal expression in S or G2 phase.
CC {ECO:0000269|PubMed:18182857}.
CC -!- SIMILARITY: Belongs to the PIERCE1 family. {ECO:0000305}.
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DR EMBL; AY927868; AAX22217.1; -; mRNA.
DR EMBL; AL161452; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021261; AAH21261.1; -; mRNA.
DR CCDS; CCDS43899.1; -. [Q5BN46-1]
DR CCDS; CCDS6989.1; -. [Q5BN46-2]
DR RefSeq; NP_001041730.1; NM_001048265.1. [Q5BN46-1]
DR RefSeq; NP_653255.1; NM_144654.2. [Q5BN46-2]
DR AlphaFoldDB; Q5BN46; -.
DR BioGRID; 126503; 2.
DR IntAct; Q5BN46; 2.
DR STRING; 9606.ENSP00000395281; -.
DR iPTMnet; Q5BN46; -.
DR PhosphoSitePlus; Q5BN46; -.
DR BioMuta; C9orf116; -.
DR MassIVE; Q5BN46; -.
DR PaxDb; Q5BN46; -.
DR PeptideAtlas; Q5BN46; -.
DR PRIDE; Q5BN46; -.
DR ProteomicsDB; 62718; -. [Q5BN46-1]
DR ProteomicsDB; 62719; -. [Q5BN46-2]
DR Antibodypedia; 18585; 56 antibodies from 19 providers.
DR DNASU; 138162; -.
DR Ensembl; ENST00000371789.7; ENSP00000360854.3; ENSG00000160345.13. [Q5BN46-2]
DR Ensembl; ENST00000371791.5; ENSP00000360856.1; ENSG00000160345.13. [Q5BN46-2]
DR Ensembl; ENST00000429260.7; ENSP00000395281.2; ENSG00000160345.13. [Q5BN46-1]
DR GeneID; 138162; -.
DR KEGG; hsa:138162; -.
DR MANE-Select; ENST00000429260.7; ENSP00000395281.2; NM_001048265.2; NP_001041730.1.
DR UCSC; uc004cfs.2; human. [Q5BN46-1]
DR CTD; 138162; -.
DR DisGeNET; 138162; -.
DR GeneCards; C9orf116; -.
DR HGNC; HGNC:28435; PIERCE1.
DR HPA; ENSG00000160345; Tissue enhanced (fallopian tube, testis).
DR MIM; 614502; gene.
DR neXtProt; NX_Q5BN46; -.
DR OpenTargets; ENSG00000160345; -.
DR VEuPathDB; HostDB:ENSG00000160345; -.
DR eggNOG; ENOG502S22V; Eukaryota.
DR GeneTree; ENSGT00940000154745; -.
DR HOGENOM; CLU_135708_0_0_1; -.
DR InParanoid; Q5BN46; -.
DR OMA; DYYRVSE; -.
DR OrthoDB; 1574929at2759; -.
DR PhylomeDB; Q5BN46; -.
DR TreeFam; TF323876; -.
DR PathwayCommons; Q5BN46; -.
DR SignaLink; Q5BN46; -.
DR BioGRID-ORCS; 138162; 5 hits in 1068 CRISPR screens.
DR ChiTaRS; C9orf116; human.
DR GenomeRNAi; 138162; -.
DR Pharos; Q5BN46; Tdark.
DR PRO; PR:Q5BN46; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5BN46; protein.
DR Bgee; ENSG00000160345; Expressed in bronchial epithelial cell and 109 other tissues.
DR ExpressionAtlas; Q5BN46; baseline and differential.
DR Genevisible; Q5BN46; HS.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; ISS:UniProtKB.
DR GO; GO:0006974; P:cellular response to DNA damage stimulus; IEA:Ensembl.
DR GO; GO:0071494; P:cellular response to UV-C; IEA:Ensembl.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; ISS:UniProtKB.
DR GO; GO:0061966; P:establishment of left/right asymmetry; ISS:UniProtKB.
DR GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
DR InterPro; IPR026507; UPF0691.
DR PANTHER; PTHR20899; PTHR20899; 1.
DR Pfam; PF14892; DUF4490; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..136
FT /note="Piercer of microtubule wall 1 protein"
FT /id="PRO_0000089728"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 75..92
FT /note="KVFYPNSNKFSQQLAAGG -> RVECSGTILSMFTWRKAS (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014466"
FT VAR_SEQ 93..136
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014467"
SQ SEQUENCE 136 AA; 15260 MW; 40EF2889FC52E775 CRC64;
MAEECPRACA EPVAPKATAP PERTSDYYRV SADLPGRFNN PGWFRGYRTQ KAVSVYRTSN
QAYGSRAPTV HEMPKVFYPN SNKFSQQLAA GGMFRNNTLN VYLEKSIVTG PDNCITSCDR
LNFHPSYNIN RPSICD
