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
//