ID CK095_HUMAN Reviewed; 678 AA. AC C9JLR9; A6NLS7; Q3C1V4; DT 18-MAY-2010, integrated into UniProtKB/Swiss-Prot. DT 03-NOV-2009, sequence version 1. DT 27-MAY-2015, entry version 41. DE RecName: Full=Uncharacterized protein C11orf95; GN Name=C11orf95; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16554811; DOI=10.1038/nature04632; RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., RA Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., RA FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S., RA Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., RA Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., RA Sakaki Y.; RT "Human chromosome 11 DNA sequence and analysis including novel gene RT identification."; RL Nature 440:497-500(2006). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] OF 162-538. RA Totoki Y., Yada T., Sakaki Y., Takeda T.; RT "Identification of novel human genes predicted by combining multiple RT gene-finders."; RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases. RN [3] RP CHROMOSOMAL TRANSLOCATION WITH MKL2. RX PubMed=20607705; DOI=10.1002/gcc.20788; RA Huang D., Sumegi J., Dal Cin P., Reith J.D., Yasuda T., Nelson M., RA Muirhead D., Bridge J.A.; RT "C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) RT in chondroid lipoma."; RL Genes Chromosomes Cancer 49:810-818(2010). RN [4] RP CHROMOSOMAL TRANSLOCATION WITH RELA. RX PubMed=24553141; DOI=10.1038/nature13109; RA Parker M., Mohankumar K.M., Punchihewa C., Weinlich R., Dalton J.D., RA Li Y., Lee R., Tatevossian R.G., Phoenix T.N., Thiruvenkatam R., RA White E., Tang B., Orisme W., Gupta K., Rusch M., Chen X., Li Y., RA Nagahawhatte P., Hedlund E., Finkelstein D., Wu G., Shurtleff S., RA Easton J., Boggs K., Yergeau D., Vadodaria B., Mulder H.L., RA Becksfort J., Becksford J., Gupta P., Huether R., Ma J., Song G., RA Gajjar A., Merchant T., Boop F., Smith A.A., Ding L., Lu C., Ochoa K., RA Zhao D., Fulton R.S., Fulton L.L., Mardis E.R., Wilson R.K., RA Downing J.R., Green D.R., Zhang J., Ellison D.W., Gilbertson R.J.; RT "C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in RT ependymoma."; RL Nature 506:451-455(2014). CC -!- DISEASE: Note=A chromosomal aberration involving MKL2 is found in CC 3 chondroid lipomas. Translocation t(11;16)(q13;p13) with MKL2 CC produces a C11orf95-MKL2 fusion protein (PubMed:20607705). CC {ECO:0000269|PubMed:20607705}. CC -!- DISEASE: Note=A chromosomal aberration involving RELA is found in CC more than two-thirds of supratentorial ependymomas. Translocation CC with RELA produces a C11orf95-RELA fusion protein. C11orf95-RELA CC translocations are potent oncogenes that probably transform neural CC stem cells by driving an aberrant NF-kappa-B transcription program CC (PubMed:24553141). {ECO:0000269|PubMed:24553141}. CC -!- SEQUENCE CAUTION: CC Sequence=BAE46893.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={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; AP006289; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AB231751; BAE46893.1; ALT_SEQ; mRNA. DR RefSeq; NP_001138408.1; NM_001144936.1. DR UniGene; Hs.191073; -. DR ProteinModelPortal; C9JLR9; -. DR STRING; 9606.ENSP00000413719; -. DR PhosphoSite; C9JLR9; -. DR BioMuta; C11orf95; -. DR MaxQB; C9JLR9; -. DR PaxDb; C9JLR9; -. DR PRIDE; C9JLR9; -. DR Ensembl; ENST00000433688; ENSP00000482180; ENSG00000188070. DR GeneID; 65998; -. DR KEGG; hsa:65998; -. DR UCSC; uc010rmv.2; human. DR CTD; 65998; -. DR GeneCards; GC11M063527; -. DR HGNC; HGNC:28449; C11orf95. DR MIM; 615699; gene. DR neXtProt; NX_C9JLR9; -. DR Orphanet; 251636; Ependymoma. DR PharmGKB; PA165543266; -. DR eggNOG; NOG74949; -. DR GeneTree; ENSGT00600000084617; -. DR HOGENOM; HOG000143422; -. DR InParanoid; C9JLR9; -. DR PhylomeDB; C9JLR9; -. DR GenomeRNAi; 65998; -. DR NextBio; 67496; -. DR PRO; PR:C9JLR9; -. DR Proteomes; UP000005640; Chromosome 11. DR ExpressionAtlas; C9JLR9; baseline and differential. DR InterPro; IPR015880; Znf_C2H2-like. DR SMART; SM00355; ZnF_C2H2; 4. PE 2: Evidence at transcript level; KW Chromosomal rearrangement; Complete proteome; Reference proteome. FT CHAIN 1 678 Uncharacterized protein C11orf95. FT /FTId=PRO_0000393909. FT COMPBIAS 178 200 Glu-rich. FT COMPBIAS 222 259 Arg-rich. FT COMPBIAS 389 400 Poly-Glu. FT COMPBIAS 492 572 Pro-rich. FT COMPBIAS 512 554 Glu-rich. FT SITE 138 138 Breakpoint for translocation to form FT C11orf95-MLK2 fusion protein. SQ SEQUENCE 678 AA; 73197 MW; 5F6968486885F093 CRC64; MEPGGDHRSR SSGGRGGPGP AVASARGRRL PPAGSSGSAE PEEDEGGQDL QLEGGALGSW GSAPLPSSRA RGPASSGRKY SDHCEARASR PGKSRIPGRD HRRYYHDHWR LEYLMDFNPA RHGMVCMVCG SSLATLKLST IKRHIRQKHP YSLHWSPREK EVISNSWDAH LGLGACGEAE GLGVQGAEEE EEEEEEEEEE GAGVPACPPK GPGKAPAGGG CRRQRRGGPV APRARRLRLS ASRRAGGSRG LGARRLERRL KESLQNWFRA ECLMDYDPRG NRLVCMACGR ALPSLHLDDI RAHVLEVHPG SLGLSGPQRS ALLQAWGGQP EALSELTQSP PGDDLAPQDL TGKSRDSASA AGAPSSQDLS PPDVKEEAGW VPERPGPAEE EEELEEGEGE RAGVPGRSPR GRAHRRHPQE RWRLEYLMEL DGGRRGLVCG VCGGALASLK MSTIERHIRR RHPGSTRLGG PVQALIAREW SEKAAHLLAL GPPRPESPQG PIPPGTAAAS DEGGGDEEEE PEEEEEEWGD VPLSPGAPLE RPAEEEEDEE DGQEPGGLAL PPPPPPPPPP PPRSREQRRN YQPRWRGEYL MDYDGSRRGL VCMVCGGALA TLKVSTIKRH ILQVHPFSMD FTPEERQTIL EAYEEAALRC YGHEGFGPPA PAPRDGGADL KSGAVCRA //