Homo sapiens (human): 11190 Help Entry 11190             CDS       T01001                                  Symbol CEP250, C-NAP1, CEP2, CNAP1, CRDHL2 Name (RefSeq) centrosomal protein 250   KO K16464   centrosomal protein CEP250 Organism hsa  Homo sapiens (human) Disease H02135   Cone-rod dystrophy and hearing loss Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03036 Chromosome and associated proteins [BR:hsa03036]     11190 (CEP250)   09183 Protein families: signaling and cellular processes    03037 Cilium and associated proteins [BR:hsa03037]     11190 (CEP250) Chromosome and associated proteins [BR:hsa03036]  Eukaryotic type   Centrosome formation proteins    Centriole proteins     11190 (CEP250) Cilium and associated proteins [BR:hsa03037]  Other cilia and associated proteins   Other cilium assembly proteins    11190 (CEP250) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Rootletin Motif Other DBs NCBI-GeneID:  11190 NCBI-ProteinID:  NP_009117 OMIM:  609689 HGNC:  1859 Ensembl:  ENSG00000126001 UniProt:  Q9BV73 Structure PDBPDBj LinkDB All DBs Position 20:35455165..35519280 Genome browser AA seq 2442 aa AA seqDB search METRSPGLNNMKPQSLQLVLEEQVLALQQQMAENQAASWRKLKNSQEAQQRQATLVRKLQ AKVLQYRSWCQELEKRLEATGGPIPQRWENVEEPNLDELLVRLEEEQQRCESLAEVNTQL RLHMEKADVVNKALREDVEKLTVDWSRARDELMRKESQWQMEQEFFKGYLKGEHGRLLSL WREVVTFRRHFLEMKSATDRDLMELKAEHVRLSGSLLTCCLRLTVGAQSREPNGSGRMDG REPAQLLLLLAKTQELEKEAHERSQELIQLKSQGDLEKAELQDRVTELSALLTQSQKQNE DYEKMIKALRETVEILETNHTELMEHEASLSRNAQEEKLSLQQVIKDITQVMVEEGDNIA QGSGHENSLELDSSIFSQFDYQDADKALTLVRSVLTRRRQAVQDLRQQLAGCQEAVNLLQ QQHDQWEEEGKALRQRLQKLTGERDTLAGQTVDLQGEVDSLSKERELLQKAREELRQQLE VLEQEAWRLRRVNVELQLQGDSAQGQKEEQQEELHLAVRERERLQEMLMGLEAKQSESLS ELITLREALESSHLEGELLRQEQTEVTAALARAEQSIAELSSSENTLKTEVADLRAAAVK LSALNEALALDKVGLNQQLLQLEEENQSVCSRMEAAEQARNALQVDLAEAEKRREALWEK NTHLEAQLQKAEEAGAELQADLRDIQEEKEEIQKKLSESRHQQEAATTQLEQLHQEAKRQ EEVLARAVQEKEALVREKAALEVRLQAVERDRQDLAEQLQGLSSAKELLESSLFEAQQQN SVIEVTKGQLEVQIQTVTQAKEVIQGEVRCLKLELDTERSQAEQERDAAARQLAQAEQEG KTALEQQKAAHEKEVNQLREKWEKERSWHQQELAKALESLEREKMELEMRLKEQQTEMEA IQAQREEERTQAESALCQMQLETEKERVSLLETLLQTQKELADASQQLERLRQDMKVQKL KEQETTGILQTQLQEAQRELKEAARQHRDDLAALQEESSSLLQDKMDLQKQVEDLKSQLV AQDDSQRLVEQEVQEKLRETQEYNRIQKELEREKASLTLSLMEKEQRLLVLQEADSIRQQ ELSALRQDMQEAQGEQKELSAQMELLRQEVKEKEADFLAQEAQLLEELEASHITEQQLRA SLWAQEAKAAQLQLRLRSTESQLEALAAEQQPGNQAQAQAQLASLYSALQQALGSVCESR PELSGGGDSAPSVWGLEPDQNGARSLFKRGPLLTALSAEAVASALHKLHQDLWKTQQTRD VLRDQVQKLEERLTDTEAEKSQVHTELQDLQRQLSQNQEEKSKWEGKQNSLESELMELHE TMASLQSRLRRAELQRMEAQGERELLQAAKENLTAQVEHLQAAVVEARAQASAAGILEED LRTARSALKLKNEEVESERERAQALQEQGELKVAQGKALQENLALLTQTLAEREEEVETL RGQIQELEKQREMQKAALELLSLDLKKRNQEVDLQQEQIQELEKCRSVLEHLPMAVQERE QKLTVQREQIRELEKDRETQRNVLEHQLLELEKKDQMIESQRGQVQDLKKQLVTLECLAL ELEENHHKMECQQKLIKELEGQRETQRVALTHLTLDLEERSQELQAQSSQIHDLESHSTV LARELQERDQEVKSQREQIEELQRQKEHLTQDLERRDQELMLQKERIQVLEDQRTRQTKI LEEDLEQIKLSLRERGRELTTQRQLMQERAEEGKGPSKAQRGSLEHMKLILRDKEKEVEC QQEHIHELQELKDQLEQQLQGLHRKVGETSLLLSQREQEIVVLQQQLQEAREQGELKEQS LQSQLDEAQRALAQRDQELEALQQEQQQAQGQEERVKEKADALQGALEQAHMTLKERHGE LQDHKEQARRLEEELAVEGRRVQALEEVLGDLRAESREQEKALLALQQQCAEQAQEHEVE TRALQDSWLQAQAVLKERDQELEALRAESQSSRHQEEAARARAEALQEALGKAHAALQGK EQHLLEQAELSRSLEASTATLQASLDACQAHSRQLEEALRIQEGEIQDQDLRYQEDVQQL QQALAQRDEELRHQQEREQLLEKSLAQRVQENMIQEKQNLGQEREEEEIRGLHQSVRELQ LTLAQKEQEILELRETQQRNNLEALPHSHKTSPMEEQSLKLDSLEPRLQRELERLQAALR QTEAREIEWREKAQDLALSLAQTKASVSSLQEVAMFLQASVLERDSEQQRLQDELELTRR ALEKERLHSPGATSTAELGSRGEQGVQLGEVSGVEAEPSPDGMEKQSWRQRLEHLQQAVA RLEIDRSRLQRHNVQLRSTLEQVERERRKLKREAMRAAQAGSLEISKATASSPTQQDGRG QKNSDAKCVAELQKEVVLLQAQLTLERKQKQDYITRSAQTSRELAGLHHSLSHSLLAVAQ APEATVLEAETRRLDESLTQSLTSPGPVLLHPSPSTTQAASR NT seq 7329 nt NT seq  +upstreamnt  +downstreamnt atggagacaagaagccctgggttgaacaacatgaagccccagtcactgcagctggtactg gaagagcaggtgctggcactacagcagcagatggcagagaatcaggcagcctcctggcgg aagctgaagaactcccaggaggcccagcagagacaagcaacccttgtgaggaagctgcag gccaaggtgctgcagtaccgaagctggtgccaagagctggagaagcggctagaagccact ggaggaccaatcccccagaggtgggaaaatgtggaggagccaaacctggatgagctgctg gtccgattggaggaggagcaacagaggtgtgagagtctagcagaggtgaacacccagctt cgactgcacatggaaaaagctgacgtggtgaataaagcccttagggaagatgtggaaaaa ctgacagtggactggagccgggcccgggatgagctaatgaggaaggagagccagtggcag atggagcaggagttcttcaagggctacctgaaaggggagcacggtcgccttctcagtcta tggcgggaggttgtgacattccgacgccacttcctggaaatgaagtcagctactgacaga gatctgatggagctaaaagctgagcatgtgaggctttcagggtctctgttgacctgttgt ctgcgcttgactgtgggagcacagtctcgggaacccaacggatctggaagaatggatggg cgggagccggcccagctgctgctgctactagccaagacccaggagctggagaaggaagcc catgaaaggagccaggagttaatacagctgaagagtcaaggggatctggagaaggctgaa cttcaggaccgggtgaccgagctctctgctctgttgacccagtctcagaagcaaaatgaa gattatgaaaagatgataaaggctctgagagagacagtggagatcctggagacaaatcac acagaattaatggaacatgaagcatctcttagtaggaatgcgcaagaggagaagttgtct ttacagcaggtgatcaaggatataacccaggtcatggtggaagaaggggacaatatagcc caaggctctggtcatgagaactctttggaattggactctagtatcttctcccagtttgat taccaggatgcagacaaggctcttactctggtgcgttcagtgctgactcggagacgccag gctgtgcaggacctaaggcagcagcttgcaggctgtcaagaggctgtgaacttgttgcaa cagcagcatgatcagtgggaggaagagggcaaagccttgagacagcggctgcagaagctc actggggagcgggacactctggcagggcagactgtggacctccagggagaggtggactct ctcagcaaggagcgagagctgctgcagaaggccagggaagagctgcggcagcagctggag gtgctagagcaggaggcatggcgcctgcgaagggtaaatgtggagcttcagctgcagggg gactctgcccagggccagaaggaggaacagcaggaggagctgcacctggctgtccgggag agggagcgtcttcaggagatgctgatgggcctggaagccaaacagtcagaatcactcagt gaactgatcactcttcgggaagccctggagtcaagtcacctggaaggggagttactgagg caagagcaaacggaagtgaccgcagcgctggctagggcagagcagtcaattgcagagctg tcgagttctgaaaacaccctgaagacagaagtagctgatcttcgggctgcagctgtcaag ctcagtgccttaaatgaggctttggcgttagataaagttgggctgaaccagcagcttctc cagttagaggaggagaaccagtctgtgtgcagcagaatggaggccgcagagcaggcgaga aatgctttgcaggtcgacctggcggaggcagagaagaggagggaagccctgtgggaaaag aacactcacctggaggctcagctgcagaaagctgaggaggctggggctgagctgcaggca gatctcagggacatccaagaagagaaggaagaaattcaaaagaaactaagtgagtcacgt caccagcaggaggcagccacgactcagctggagcagctacatcaggaggcaaagcgacag gaagaagtgcttgccagggcagtccaggagaaggaggccctagtacgagagaaagcggct ctagaggtgcggctgcaggccgtggagcgtgaccggcaggacctcgctgaacaactacag gggctcagctcagccaaggagctactggagagcagtctgtttgaagcccaacaacaaaat tctgtgatagaggtcaccaaggggcagctggaggtccagattcaaactgtcactcaagcc aaggaagtaatccaaggggaagtgaggtgcctgaagctggaactggacactgaacggagt caggcagagcaggagcgggatgctgcagccagacagctggcccaggctgagcaagaaggg aagactgccttggagcagcagaaggcagcccatgagaaagaggtgaaccagctccgggag aaatgggagaaggagcgctcctggcaccagcaggagctggcaaaggctctggagagctta gaaagggaaaaaatggagctggaaatgaggctaaaggagcagcagacagaaatggaggcc atccaggcccagagggaagaagaacggacccaggcagagagtgccctatgccagatgcag ctggaaacagagaaggagagagtatccctcctggagacactgctgcagacgcagaaggag ctagcagatgccagccaacaactggaacgactgaggcaggacatgaaagtccagaaatta aaggagcaggagaccactgggatactacagacccagctccaggaggctcaacgggagctg aaggaggcagcccggcagcacagagatgaccttgctgccctccaagaagagagcagctcc ctgctgcaggataagatggacctgcagaagcaggtggaggacttgaagtctcagctggtg gcccaggatgactcccagaggctggtggagcaggaggttcaggagaagctgagagagacc caggagtataaccgaattcagaaggagctggagagagagaaagccagcctgactctctca ctgatggaaaaggaacagagactccttgttttacaagaagctgactctattcgacaacaa gagctgagtgccctgcgccaggacatgcaggaggcccagggagaacagaaagagctcagt gctcagatggaattactaaggcaagaggtgaaggaaaaggaggctgactttctggcccag gaagcacagctgctggaggagctggaggcgtctcatatcacggagcagcagctgcgagcc tccttgtgggcccaggaagccaaggcagcccaactacagctgcgactgcgcagcacagag agccagctagaagcgctggccgcagagcagcagcccgggaaccaggcccaggcccaggcc cagctggccagcctctactctgccctgcagcaggccctggggtctgtttgtgagagcagg cctgagctgagtggtgggggagactctgctccttccgtctggggccttgagccagaccag aatggagctaggagcctctttaagagagggcccctgctgactgctctctccgctgaggca gtagcatctgccctccacaagcttcatcaagacctgtggaagactcaacagacccgggat gttctgagggatcaggtccagaaactggaagagcgtctaactgatactgaggctgagaag agccaggtccacacagagttgcaggatctgcagagacagctctcccagaatcaggaagag aaatctaagtgggaaggaaagcagaactccctagaatctgagctgatggaactacatgaa actatggcatccttacagagtcgcctgcggagagcagagctacagcgaatggaagcccag ggtgagcgagagttacttcaggcagccaaggagaacctgacagcccaggtggaacacctg caagcagctgtcgtagaagccagggctcaggcaagtgctgctggcatcctggaagaagac ctgagaacggctcgctcagcactgaagctgaaaaatgaggaagtagagagtgagcgtgag agagcccaggctctgcaagagcagggcgaactgaaggtggcccaagggaaggctctgcaa gagaatttggccctcctgacccagaccctagctgaaagagaagaggaggtggagactctg cggggacaaatccaggaactggagaagcaacgggaaatgcagaaggctgctttggaattg ctgtctctggacctgaagaagaggaaccaagaggtagatctgcagcaagaacagattcag gagctagagaagtgtaggtctgttttagagcatctgcccatggccgtccaggagcgagag cagaagctgactgtgcagagggagcagatcagagagctcgagaaggatcgggagactcag aggaacgtcttggagcatcagcttctagaacttgagaagaaagaccaaatgattgagtcc cagagaggacaggttcaggacctgaaaaagcagttggttactctggaatgcctggccctg gaactggaggaaaaccatcacaagatggagtgccagcaaaaactgatcaaggagctggag ggccagagggaaacccagagagtggctttgacccaccttacgctggacctagaagaaagg agccaggagctgcaggcacaaagcagccagatccatgacctggagagccacagcaccgtt ctggcaagagagctgcaggagagggaccaggaggtgaagtctcagcgagaacagatcgag gagctgcagaggcagaaagagcatctgactcaggatctcgagaggagagaccaggagctg atgctgcagaaggagaggattcaggttctcgaggatcagaggacccggcagaccaagatc ctggaggaggacctggaacagatcaagctgtccttgagagagcgaggccgggagctgacc actcagaggcagctgatgcaggaacgggcagaggaagggaagggcccaagtaaagcacag cgcgggagcctagagcacatgaagctgatcctgcgtgataaggagaaggaggtggaatgt cagcaggagcatatccatgaactccaggagctcaaagaccagctggagcagcagctccag ggcctgcacaggaaggtaggtgagaccagcctcctcctgtcccagcgagagcaggaaata gtggtcctgcagcagcaactgcaggaagccagggaacaaggggagctgaaggagcagtca cttcagagtcaactggatgaggcccagagagccctagcccagagggaccaggaactggag gctctgcagcaagaacagcagcaggcccagggacaggaggagagggtgaaggaaaaggca gacgccctccagggagctctggagcaagcccatatgacactgaaggagcgtcatggagag cttcaggaccacaaggaacaggcacgaaggctggaggaagagctggcagtggagggacgg cgggtccaggccctggaggaggtgctgggagacctaagggctgagtctcgggaacaggag aaagctctgttggccctccagcagcagtgtgctgagcaggcacaggagcatgaggtggag accagggccctgcaggacagctggctgcaggcccaggcagtgctcaaggaacgggaccag gagctggaagctctgcgggcagaaagtcagtcctcccggcatcaggaggaggctgcccgg gcccgggctgaggctctgcaggaggcccttggcaaggctcatgctgccctgcaggggaaa gagcagcatctcctcgagcaggcagaattgagccgcagtctggaggccagcactgcaacc ctgcaagcctccctggatgcctgccaggcacacagtcggcagctggaggaggctctgagg atacaagaaggtgagatccaggaccaggatctccgataccaggaggatgtgcagcagctg cagcaggcacttgcccagagggatgaagagctgagacatcagcaggaacgggagcagctg ctggagaagtctctggcccagagggtccaagagaatatgatccaagagaagcagaatctg gggcaagagagagaagaggaggagataaggggccttcatcagagtgtaagggagctacag ctgactctagcccaaaaggaacaggagattctggagctgagggagacccagcaaaggaac aacctggaagccttaccccacagccacaaaacctccccaatggaggaacaatctctaaaa cttgattctttagagcccaggctgcagcgggagctggagcggctacaggcagccctgaga cagacagaagccagggagattgagtggagggagaaggcccaggacttggcactctcccta gcgcagaccaaggccagtgtcagcagtctgcaggaggtagccatgttcctacaagcctct gtcctggagcgggactcagaacagcaaaggctgcaggatgaactggagctcaccagacgg gctctggagaaggagcggctacacagcccaggtgcaaccagcacagcagaactggggtcc agaggggagcagggtgtgcagctgggagaggtctcaggagtggaggctgagcctagtcct gatggaatggagaagcagtcatggagacaaaggcttgaacacctgcagcaagcagtggcc cggctggagattgacaggagcaggctgcagcgccacaatgtccagctgcggagtaccttg gagcaggtggagcgagaacggaggaagctgaagagggaggccatgcgtgcggcccaggca gggtccctagagatcagcaaggccacggcttcttcacccacacagcaggatgggagagga cagaagaactcagatgccaagtgtgtggctgaactgcagaaagaggtggtcctgctgcaa gctcagctgactttggagcggaagcagaagcaggactacatcacccgctcagcacagacc agccgtgagctagcaggcctgcaccacagcctctcacactcacttcttgccgtggcccag gcccctgaggccactgtcctggaggcagagacccgcaggctggatgagtccctgactcaa agtctgacatccccagggccagtcctgctacaccccagccccagcactacccaagccgcc tccaggtag

DBGET integrated database retrieval system