LOCUS       AF291673                4677 bp    mRNA    linear   HUM 14-DEC-2000
DEFINITION  Homo sapiens gigaxonin mRNA, complete cds.
ACCESSION   AF291673
VERSION     AF291673.1
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 4677)
  AUTHORS   Bomont,P., Cavalier,L., Blondeau,F., Ben Hamida,C., Belal,S.,
            Tazir,M., Demir,E., Topaloglu,H., Korinthenberg,R., Tuysuz,B.,
            Landrieu,P., Hentati,F. and Koenig,M.
  TITLE     The gene encoding gigaxonin, a new member of the cytoskeletal
            BTB/kelch repeat family, is mutated in giant axonal neuropathy
  JOURNAL   Nat. Genet. 26 (3), 370-374 (2000)
   PUBMED   11062483
REFERENCE   2  (bases 1 to 4677)
  AUTHORS   Bomont,P., Cavalier,L., Blondeau,F., Ben Hamida,C., Belal,S.,
            Tazir,M., Demir,E., Topaloglu,H., Korinthenberg,R., Tuysuz,B.,
            Landrieu,P., Hentati,F. and Koenig,M.
  TITLE     Direct Submission
  JOURNAL   Submitted (31-JUL-2000) Human Genetics, IGBMC, 1 Rue L.Fries,
            Illkirch, CEDEX 67404, France
FEATURES             Location/Qualifiers
     source          1..4677
                     /db_xref="H-InvDB:HIT000076472"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
                     /tissue_type="brain"
                     /dev_stage="21-26 weeks embryo"
     CDS             145..1938
                     /note="member of BTB Kelch repeat family; mutated in giant
                     axonal neuropathy"
                     /codon_start=1
                     /product="gigaxonin"
                     /protein_id="AAG35311.1"
                     /translation="MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQ
                     KNILAAASPYIRTKLNYNPPKDDGSTYKIELEGISVMVMREILDYIFSGQIRLNEDTI
                     QDVVQAADLLLLTDLKTLCCEFLEGCIAAENCIGIRDFALHYCLHHVHYLATEYLETH
                     FRDVSSTEEFLELSPQKLKEVISLEKLNVGNERYVFEAVIRWIAHDTEIRKVHMKDVM
                     SALWVSGLDSSYLREQMLNEPLVREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIV
                     TVGGEERVSRKPTAAMRCMCPLYDPNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQ
                     DENKQTLSSGEKYDPDANTWTALPPMNEARHNFGIVEIDGMLYILGGEDGEKELISME
                     CYDIYSKTWTKQPDLTMVRKIGCYAAMKKKIYAMGGGSYGKLFESVECYDPRTQQWTA
                     ICPLKERRFGAVACGVAMELYVFGGVRSREDAQGSEMVTCKSEFYHDEFKRWIYLNDQ
                     NLCIPASSSFVYGAVPIGASIYVIGDLDTGTNYDYVREFKRSTGTWHHTKPLLPSDLR
                     RTGCAALRIANCKLFRLQLQQGLFRIRVHSP"
BASE COUNT         1339 a          901 c         1059 g         1376 t
ORIGIN      
        1 caggcacgtc ccgggggctc cagcttctgc tcagagcgcg gagagccggg ccgggcgggc
       61 gcgcgcgcag gactcgggcc gctcgagggg tccggccgga cggtgtcggg agccggaccc
      121 gtcggcagag gagcgggcgc cgcgatggct gagggcagtg ccgtgtctga ccctcagcac
      181 gccgcgcgtc tgctgcgagc gctcagctct ttccgcgagg agtctcgctt ctgcgacgcg
      241 cacctggtcc tcgacgggga ggagatcccg gtgcagaaga acatcctggc ggcggccagc
      301 ccgtacatca ggacaaagtt aaactataat cctccaaaag atgatggatc aacttataag
      361 attgaacttg aagggatatc ggtaatggtt atgagagaga tcctggatta catcttcagt
      421 gggcagatca ggctaaatga agatacaatc caagatgttg ttcaggcagc tgacctgctg
      481 ctactgacgg accttaaaac cctgtgctgt gagtttttgg aaggctgcat tgctgctgag
      541 aactgtattg gtatccgtga ctttgcacta cattactgcc tccatcacgt tcattacctt
      601 gccacagaat acctggagac tcatttccga gacgtcagca gcacggaaga attcttagag
      661 ctgagtcctc aaaagcttaa agaagtgatt tctcttgaga agttaaacgt tggcaatgaa
      721 agatatgtct ttgaagcagt aattcgatgg atagcacatg atacagaaat aagaaaggtc
      781 cacatgaagg atgttatgtc agctctgtgg gtttcagggt tggactccag ttatttacgg
      841 gaacagatgc tgaatgaacc attagtacga gaaattgtca aagagtgtag caatataccg
      901 ctcagccagc cgcagcaagg ggaggcgatg ctggccaact tcaaaccccg gggctactct
      961 gagtgcatcg tgactgttgg tggagaagag agagtttcac ggaaacccac agcagcgatg
     1021 cgatgcatgt gccctctcta tgaccctaac aggcagcttt ggatcgaact ggccccttta
     1081 agcatgccga gaattaacca tggagttctc tcagcagaag gatttttgtt tgtattcggg
     1141 ggccaagatg aaaataagca gactcttagc tcaggagaaa agtatgatcc agatgcaaat
     1201 acatggacag cattgccacc tatgaacgag gcaagacata acttcggaat tgtggagata
     1261 gatgggatgc tgtacatttt gggaggagag gatggtgaaa aggagctgat ttccatggag
     1321 tgttacgata tttattctaa aacctggaca aagcaacctg atttgaccat ggtcagaaag
     1381 atcggctgct atgcagctat gaaaaagaaa atctacgcca tgggtggagg ctcctatgga
     1441 aagctttttg agtctgtaga gtgttatgat cccaggaccc agcagtggac tgccatatgt
     1501 ccactaaaag agaggaggtt tggagcggtg gcctgtggag ttgctatgga gctgtatgtg
     1561 tttgggggag tccgaagtcg tgaggacgcc cagggtagcg agatggtaac ttgcaagtcc
     1621 gagttctacc atgatgagtt taaaaggtgg atctatctta acgaccagaa tttatgcatc
     1681 cccgccagtt cctcttttgt ttatggagct gtacctatag gagccagtat ttatgttatt
     1741 ggagatcttg atacaggtac caattacgac tacgtgcgtg agtttaaaag aagcacagga
     1801 acctggcacc acactaaacc actccttcca tccgaccttc gccgtacagg atgtgcagcc
     1861 ttacgcattg cgaattgcaa gcttttccgc ctgcagcttc agcaaggctt attccgtatt
     1921 cgtgttcatt ccccttgagg aggaagcaga gcagagtgcg agatcctgac ccaagagcac
     1981 cataacatag ctccgaaagg gagagcagag atggcagctg aaactcactc tgtgctgggc
     2041 tttggtatgg taactctttg gtggttttat gatgcttaca aacttgagct ttagctcttg
     2101 tttgggagaa cacgtaactg ttgaaaaact acctgggagg agtgagttcc tccagttaaa
     2161 tgtggctgta gatgttggag gctagggagg ctagtaaata tcaaaaggaa aagggagtgg
     2221 gaattgctat catgtaaaat atcaaagtta aaatactaag gtgcattttc cctgaaggga
     2281 actcatgtct gactgctgta ttcaaatacg tagctttggt aacaaacaaa atccgtatat
     2341 gcaaatcaac atatccaaac atgccaagac tgcttttcca ctgcacttgg aaggatatat
     2401 tatgcctaac cctgcccaac aaattaaggt ttgtgcctaa aatgttagat tggactgtat
     2461 gccagttagt ctccatttat tcctagtact ctgtcctaag aatcttttta aaactatatc
     2521 atgatgaatt gaaatgaaga taaaattgct cttttgtaac tttatcttag taatgtaaag
     2581 attcagtaaa ttgatgagtc aggttgcagc cctcatgtga actgaaagaa gttgctcgct
     2641 tctgtgttga cttagatcaa gacacgtcac gcatcctttc tggggtagta cctgtggagc
     2701 cgggaagggt ctcctgcagt gccattctgc cttctcaatg agcaaaacca ttttctaagt
     2761 atgaggatat tagtgagtag gagattttat aaaagaaaga cctgagtcag acaaataata
     2821 aaggtctgct gtggctaaaa aagcaaaaac aaaaaagcta tccagacaaa atacataggg
     2881 atcagaaact ttttcatata acctgtctga aagcacacaa agtcttgttt actactgttt
     2941 agggtttgaa aacttgtctt agaatgcgaa tctgtgttaa gaatctagtc tttgtaatag
     3001 aagtttccca gtggcattca ctagtgagag ttttagacaa attatgttac gagtaaagtt
     3061 tggctggtag aataaactac ctcaacttaa tttcattctg ttcatagtag agcaaattaa
     3121 tcttttcctc cttccctcct ttcctatctc tcattctcac ctcaacccac tttaccccac
     3181 ttctcattgg gggaaaaatg tctttcgttc gtggaacgta tcttgtaaga tattttgttt
     3241 tccacttgaa ttacaccacc ctagtgtgaa atcggggact tcaaagtgct tgattccttc
     3301 ctaaattgaa ttttatgcaa tgtcaaattt ctaatcaatt taatatacag tacttcattt
     3361 ttaattgttt tctaaaaaaa aggttttttt tttccttttg gaatatggct gtaagaagca
     3421 gcattttgtc ttattaacac atgtataaag gtatcctttg gttttaagtc gagaacagga
     3481 atttcttcta gaaacttcct gtatggaacg tttatatgca attaacatgc atatgaaaaa
     3541 catcacttac gttctcccac ccatagacat aaaaaagggt gacctgtgat tttttttctt
     3601 atacctgctg gaagtcagta caatgcgtca aaagttgctg aaagatgctg tgcctatggg
     3661 gttctagaga gtgttgagtg tggtacatta actctccatt ttagccagaa gatacctgat
     3721 aagagaaggt gtaaggtttt tatcttatat gccagaggca ccaggccaga tgtgccgcac
     3781 agtcatgtaa ttcaatcatg tttaatatgt cagtcaaaac caaattcaga attgttttgt
     3841 gtaccagtca gctgttgtct gcacattttc gtagtgacag tgtggagatc tttttaatga
     3901 aagcaaacta tgtggcctct gcaaagaaag gaagattttt ctttttacaa ctagatatta
     3961 gttttagagg aaggaaatag ctgaaaaact aaatttgctt tggtgaaatg tcctgtacag
     4021 ancagttcct tggcattcag cagctgtaat tggggaacat taaaacagta actgacatcc
     4081 agttaaagcc acgatcgtca gcaattctcc ttttttaatt tctgatattt aaagtttttt
     4141 ttccagtcta caccaggcct ctccaaggag acagttcatt atttaggagt gaatgtgttc
     4201 ctcttgcaat attatcagta cctgcatgac ttggtaaatt cattttataa aaatagtgtt
     4261 tttttttttt aatttcagtt cattgactct ataactgcag aaattagata atgttttata
     4321 aaataaattt gccacataat atgggatgca ataaccaaca aagctgctaa gtgccaaact
     4381 gttattttac tatatataaa tattaaaata ttgtgttgaa gtatagggat gtatttaatt
     4441 ttactatgct ccaacattaa tcatgactct tttgtaaatt acagttattt cagtattgta
     4501 aaataaatgt tgactcattt catgcaggtt tgtgttttaa cattccactt atgccttgaa
     4561 acatcatttc ttgataactt tttgatactt ctttcttgat aaggcacttt taccaggtgt
     4621 gtgttggaat tgntggctca ggataggtct taaattttaa atacaaatat ctttggg
//