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 //