LOCUS AF221992 2516 bp mRNA linear HUM 02-JUN-2000
DEFINITION Homo sapiens putative chaperonin MKKS (MKKS) mRNA, complete cds,
alternatively spliced.
ACCESSION AF221992
VERSION AF221992.1
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 2516)
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 2516)
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..2516
/db_xref="H-InvDB:HIT000074379"
/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..2516
/gene="MKKS"
/note="McKusick-Kaufman (hydrometrocoplos-polydactyly)
syndrome"
CDS 736..2448
/gene="MKKS"
/note="transcript MKKSA; includes alternative exon 1A"
/codon_start=1
/product="putative chaperonin MKKS"
/protein_id="AAF73872.1"
/translation="MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLK
QLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNL
IENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS
KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGI
LIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQL
LNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIG
SLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQT
ALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAF
CSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEEL
NWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVI
EDKN"
BASE COUNT 747 a 502 c 547 g 720 t
ORIGIN
1 ggatccgcgg cagcagcggc tgcttgagat ctgtttctgg ggcctctggc ggtggcggcc
61 tggggcggcg cgacggctgg tgcgcaggta cactgatgct gaagtactat gagccttcgg
121 aacttgtgga gagactacaa agttttggtt gttatggtcc ctttagttgg gctcatacat
181 ttggggtggt acagaatcaa aagcagccct gttttccaaa tacctaaaaa cgacgacatt
241 cctgagcaag atagtctggg actttcaaat cttcagaaga gccaaatcca ggggaagtag
301 caggcttgca atcttcaggt aaagaagcag ctttgaatct gagcttcata tcgaaagaag
361 agatgaaaaa taccagttgg attagaaaga actggcttct tgtagctggg atatctttca
421 taggtgtcca tcttggaaca tactttttgc agaggtctgc aaagcagtct gtaaaatttc
481 agtctcaaag caaacaaaag agtattgaag agtgaagtaa aataaatatt tggaattact
541 aatttgtcat taaatcattc tatgctgatt agcttcataa acattgaact ttttgatttt
601 atagccacaa tgctgcatat tcatacttta attcctaaag aataattttt aatgttaaaa
661 cgtgataatg caataaatag aaaaatgtgg tttacaaaat aaaaacggtc ttcactagtt
721 accacctgaa gtaagatgtc tcgtttggaa gctaagaagc catcattgtg taagagtgaa
781 ccactgacaa ctgagagagt caggaccaca ctttctgtct tgaaaagaat tgtaacatca
841 tgctatggcc cctcaggtag gctgaagcag ctgcacaatg gctttggagg ttacgtgtgt
901 acaacctcac agtcctcagc tctgctcagt caccttttgg tcacacatcc cattttaaag
961 atcctgacag cctccataca gaatcatgtg tcaagcttca gtgattgtgg cttattcaca
1021 gctattcttt gctgcaacct gattgaaaat gttcagagat taggcttgac acccaccact
1081 gtcattagat taaataaaca tcttttgagt ctttgcatca gttatctcaa gtctgagacc
1141 tgtggttgtc gaatcccagt ggactttagt agtactcaga tcctcctttg tttggtgcgt
1201 agtatattaa caagtaaacc tgcctgtatg ctcaccagaa aggaaacaga gcatgtcagt
1261 gctttgatcc tgagagcctt tttgcttaca attccagaaa atgctgaagg ccacatcatt
1321 ttaggaaaga gtttaattgt acctttaaaa ggtcaaagag ttatagattc cactgtatta
1381 cctgggatac tcattgaaat gtcagaagtt caattaatga ggctattacc tatcaaaaaa
1441 tcaactgccc tcaaggtggc actcttttgt acaactttat ccggagacac ttctgacact
1501 ggagaaggaa ctgtggtggt cagttatggg gtttctcttg aaaatgcagt cttggaccag
1561 ctgcttaacc taggaaggca gctaatcagt gaccacgtag atcttgtcct gtgccaaaaa
1621 gttatacatc catctttgaa gcagtttctc aatatgcatc gtattattgc catagacaga
1681 attggagtga ctctgatgga acccctgact aaaatgacag gaacacagcc tattggatcc
1741 ctaggctcaa tatgtcctaa tagttatgga agtgtgaaag atgtgtgcac tgcaaaattt
1801 ggctccaaac atttttttca tcttattcct aatgaagcga caatctgcag cttgcttctc
1861 tgcaacagaa atgacactgc ctgggatgag ctgaagctca cgtgtcagac ggcactgcat
1921 gtcctgcagt taacactcaa ggaaccatgg gctttgttgg gaggtggctg tactgaaact
1981 catttggctg catatatcag acacaagact cacaacgacc cagaaagcat tctcaaagat
2041 gatgaatgta ctcaaacaga acttcaatta attgctgaag cattttgcag tgccctagaa
2101 tctgttgttg gctctttaga acatgatgga ggtgaaattc tcactgacat gaagtatgga
2161 cacctttggt cagttcaggc agattctccc tgtgttgcta actggccaga tttgctttca
2221 cagtgtggct gtggattata caatagccag gaagaactca actggtcttt cttaagaagc
2281 acacgtcgtc catttgtgcc acaaagctgc cttccacatg aagctgtggg ctcagccagc
2341 aacctgacct tggactgttt gactgcaaag cttagtggcc tacaggtggc tgtagagaca
2401 gccaatttga ttttggatct ttcatatgtt attgaagata aaaactaaga gaatagcatg
2461 ttcgtattac aagagaaaca aataaactag tctgttggca attgaaaaaa aaaaaa
//