LOCUS AF221993 2678 bp mRNA linear HUM 02-JUN-2000 DEFINITION Homo sapiens putative chaperonin MKKS (MKKS) mRNA, complete cds, alternatively spliced. ACCESSION AF221993 VERSION AF221993.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2678) AUTHORS Stone,D.L., Slavotinek,A., Bouffard,G.G., Banerjee-Basu,S., Baxevanis,A.D., Barr,M. and Biesecker,L.G. TITLE Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome JOURNAL Nat. Genet. 25 (1), 79-82 (2000) PUBMED 10802661 REFERENCE 2 (bases 1 to 2678) AUTHORS Biesecker,L.G., Slavotinek,A.M. and Stone,D.L. TITLE Direct Submission JOURNAL Submitted (07-JAN-2000) LGDR, NHGRI/NIH, 49 Convent Drive, Bethesda, MD 20892-4472, USA FEATURES Location/Qualifiers source 1..2678 /db_xref="H-InvDB:HIT000074380" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="20" /map="20p12" /note="corresponds to genomic sequence deposited in GenBank Accession Number AL034430" gene 1..2678 /gene="MKKS" /note="McKusick-Kaufman (hydrometrocoplos-polydactyly) syndrome" CDS 888..2600 /gene="MKKS" /note="transcript MKKSB; includes alternative exon 1B" /codon_start=1 /product="putative chaperonin MKKS" /protein_id="AAF73873.1" /translation="MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLK QLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNL IENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGI LIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQL LNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIG SLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQT ALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAF CSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEEL NWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVI EDKN" BASE COUNT 818 a 524 c 570 g 765 t ORIGIN 1 gggaaaacac tttaggttga gtgctgagag aaaggctctc tgagtaggtg acatctgaac 61 taagagctga agcagaagaa taagccatcc tctgtggacc aaaggggaca agattctcta 121 cttttctgct acgcactagg aatatagcag agaagacaag tggctgctac cttctgttat 181 cgtgggtggc agtgactagt ttttctagat cttgactccc tgccgtaact aaagatggag 241 tacactgatg ctgaagtact atgagccttc ggaacttgtg gagagactac aaagttttgg 301 ttgttatggt ccctttagtt gggctcatac atttggggtg gtacagaatc aaaagcagcc 361 ctgttttcca aatacctaaa aacgacgaca ttcctgagca agatagtctg ggactttcaa 421 atcttcagaa gagccaaatc caggggaagt agcaggcttg caatcttcag gtaaagaagc 481 agctttgaat ctgagcttca tatcgaaaga agagatgaaa aataccagtt ggattagaaa 541 gaactggctt cttgtagctg ggatatcttt cataggtgtc catcttggaa catacttttt 601 gcagaggtct gcaaagcagt ctgtaaaatt tcagtctcaa agcaaacaaa agagtattga 661 agagtgaagt aaaataaata tttggaatta ctaatttgtc attaaatcat tctatgctga 721 ttagcttcat aaacattgaa ctttttgatt ttatagccac aatgctgcat attcatactt 781 taattcctaa agaataattt ttaatgttaa aacgtgataa tgcaataaat agaaaaatgt 841 ggtttacaaa ataaaaacgg tcttcactag ttaccacctg aagtaagatg tctcgtttgg 901 aagctaagaa gccatcattg tgtaagagtg aaccactgac aactgagaga gtcaggacca 961 cactttctgt cttgaaaaga attgtaacat catgctatgg cccctcaggt aggctgaagc 1021 agctgcacaa tggctttgga ggttacgtgt gtacaacctc acagtcctca gctctgctca 1081 gtcacctttt ggtcacacat cccattttaa agatcctgac agcctccata cagaatcatg 1141 tgtcaagctt cagtgattgt ggcttattca cagctattct ttgctgcaac ctgattgaaa 1201 atgttcagag attaggcttg acacccacca ctgtcattag attaaataaa catcttttga 1261 gtctttgcat cagttatctc aagtctgaga cctgtggttg tcgaatccca gtggacttta 1321 gtagtactca gatcctcctt tgtttggtgc gtagtatatt aacaagtaaa cctgcctgta 1381 tgctcaccag aaaggaaaca gagcatgtca gtgctttgat cctgagagcc tttttgctta 1441 caattccaga aaatgctgaa ggccacatca ttttaggaaa gagtttaatt gtacctttaa 1501 aaggtcaaag agttatagat tccactgtat tacctgggat actcattgaa atgtcagaag 1561 ttcaattaat gaggctatta cctatcaaaa aatcaactgc cctcaaggtg gcactctttt 1621 gtacaacttt atccggagac acttctgaca ctggagaagg aactgtggtg gtcagttatg 1681 gggtttctct tgaaaatgca gtcttggacc agctgcttaa cctaggaagg cagctaatca 1741 gtgaccacgt agatcttgtc ctgtgccaaa aagttataca tccatctttg aagcagtttc 1801 tcaatatgca tcgtattatt gccatagaca gaattggagt gactctgatg gaacccctga 1861 ctaaaatgac aggaacacag cctattggat ccctaggctc aatatgtcct aatagttatg 1921 gaagtgtgaa agatgtgtgc actgcaaaat ttggctccaa acattttttt catcttattc 1981 ctaatgaagc gacaatctgc agcttgcttc tctgcaacag aaatgacact gcctgggatg 2041 agctgaagct cacgtgtcag acggcactgc atgtcctgca gttaacactc aaggaaccat 2101 gggctttgtt gggaggtggc tgtactgaaa ctcatttggc tgcatatatc agacacaaga 2161 ctcacaacga cccagaaagc attctcaaag atgatgaatg tactcaaaca gaacttcaat 2221 taattgctga agcattttgc agtgccctag aatctgttgt tggctcttta gaacatgatg 2281 gaggtgaaat tctcactgac atgaagtatg gacacctttg gtcagttcag gcagattctc 2341 cctgtgttgc taactggcca gatttgcttt cacagtgtgg ctgtggatta tacaatagcc 2401 aggaagaact caactggtct ttcttaagaa gcacacgtcg tccatttgtg ccacaaagct 2461 gccttccaca tgaagctgtg ggctcagcca gcaacctgac cttggactgt ttgactgcaa 2521 agcttagtgg cctacaggtg gctgtagaga cagccaattt gattttggat ctttcatatg 2581 ttattgaaga taaaaactaa gagaatagca tgttcgtatt acaagagaaa caaataaact 2641 agtctgttgg caattgaraa aaaaaaaaaa aaaaaaaa //