ID CI116_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 02-DEC-2020, entry version 106. DE RecName: Full=UPF0691 protein C9orf116; DE AltName: Full=p53-induced expression in RB-null cells protein 1; DE Short=Pierce1; GN Name=C9orf116; 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 -!- 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 -!- 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 UPF0691 family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 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; 53 antibodies. DR DNASU; 138162; -. DR Ensembl; ENST00000371789; ENSP00000360854; ENSG00000160345. [Q5BN46-2] DR Ensembl; ENST00000371791; ENSP00000360856; ENSG00000160345. [Q5BN46-2] DR Ensembl; ENST00000429260; ENSP00000395281; ENSG00000160345. [Q5BN46-1] DR GeneID; 138162; -. DR KEGG; hsa:138162; -. DR UCSC; uc004cfs.2; human. [Q5BN46-1] DR CTD; 138162; -. DR DisGeNET; 138162; -. DR EuPathDB; HostDB:ENSG00000160345.12; -. DR GeneCards; C9orf116; -. DR HGNC; HGNC:28435; C9orf116. DR HPA; ENSG00000160345; Tissue enhanced (fallopian tube, testis). DR MIM; 614502; gene. DR neXtProt; NX_Q5BN46; -. DR OpenTargets; ENSG00000160345; -. DR PharmGKB; PA134878696; -. DR eggNOG; ENOG502S22V; Eukaryota. DR GeneTree; ENSGT00940000154745; -. DR HOGENOM; CLU_135708_0_0_1; -. DR InParanoid; Q5BN46; -. DR OMA; HPSYNVN; -. DR OrthoDB; 1574929at2759; -. DR PhylomeDB; Q5BN46; -. DR TreeFam; TF323876; -. DR PathwayCommons; Q5BN46; -. DR BioGRID-ORCS; 138162; 4 hits in 848 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 137 other tissues. DR ExpressionAtlas; Q5BN46; baseline and differential. DR Genevisible; Q5BN46; HS. DR GO; GO:0005634; C:nucleus; IEA:Ensembl. 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:0007368; P:determination of left/right symmetry; IEA:Ensembl. 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; Reference proteome. FT CHAIN 1..136 FT /note="UPF0691 protein C9orf116" FT /id="PRO_0000089728" 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 //