LOCUS AJ246001 3263 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for spastin protein (Spast gene).
ACCESSION AJ246001
VERSION AJ246001.1
KEYWORDS Spast gene; spastin protein; SPG4-linked hereditary spastic
paraplegia.
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 3263)
AUTHORS Genoscope.
JOURNAL Submitted (17-JUN-1999) to the INSDC. Genoscope, Genoscope - Centre
National de Sequencage, BP 191, EVRY 91006, FRANCE.
REFERENCE 2
AUTHORS Hazan J., Fonknechten N., Mavel D., Paternotte C., Samson D.,
Artiguenave F., Davoine C.S., Cruaud C., Durr A., Wincker P.,
Brottier P., Cattolico L., Barbe V., Burgunder J.M.,
Prud'homme J.F., Brice A., Fontaine B., Heilig B., Weissenbach J.
TITLE Spastin, a new AAA protein, is altered in the most frequent form of
autosomal dominant spastic paraplegia
JOURNAL Nat Genet 23(3), 296-303(1999).
PUBMED 10610178
REFERENCE 3
AUTHORS Fonknechten N., Mavel D., Byrne P., Davoine C., Cruaud C.,
Boentsch D., Samson D., Coutinho P., Hutchinson M., McMonagle P.,
Burgunder J., Tartaglione A., Heinzlef O., Feki I., Deufel T.,
Parfrey N., Brice A., Fontaine B., Prud'homme J., Weissenbach J.,
Durr A., Hazan J.
TITLE Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
JOURNAL Hum. Mol. Genet. 9(4), 637-644(2000).
PUBMED 10699187
COMMENT E-mail : seqref@genoscope.cns.fr - Web : www.genoscope.cns.fr.
FEATURES Location/Qualifiers
source 1..3263
/db_xref="H-InvDB:HIT000245911"
/organism="Homo sapiens"
/chromosome="2"
/map="2p21"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 126..1976
/gene="Spast"
/product="spastin protein"
/db_xref="GOA:Q9UBP0"
/db_xref="H-InvDB:HIT000245911.14"
/db_xref="HGNC:HGNC:11233"
/db_xref="InterPro:IPR003593"
/db_xref="InterPro:IPR003959"
/db_xref="InterPro:IPR003960"
/db_xref="InterPro:IPR007330"
/db_xref="InterPro:IPR015415"
/db_xref="InterPro:IPR017179"
/db_xref="InterPro:IPR027417"
/db_xref="InterPro:IPR035106"
/db_xref="InterPro:IPR041569"
/db_xref="PDB:3EAB"
/db_xref="PDB:3VFD"
/db_xref="PDB:5Z6Q"
/db_xref="PDB:5Z6R"
/db_xref="UniProtKB/Swiss-Prot:Q9UBP0"
/protein_id="CAB60141.1"
/translation="MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPES
PHKRNLYYFSYPLFVGFALLRLVAFHLGLLFVWLCQRFSRALMAAKRSSGAAPAPASA
SAPAPVPGGEAERVRVFHKQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGI
AVIVTGQGEQCERARRLQAKMMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNL
ACRNGHLQSESGAVPKRKDPLTHTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVS
GVKQGSGPAPTTHKGTPKTNRTNKPSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVD
NGTAVKFDDIAGQDLAKQALQEIVILPSLRPELFTGLRAPARGLLLFGPPGNGKTMLA
KAVAAESNATFFNISAASLTSKYVGEGEKLVRALFAVARELQPSIIFIDEVDSLLCER
REGEHDASRRLKTEFLIEFDGVQSAGDDRVLVMGATNRPQELDEAVLRRFIKRVYVSL
PNEETRLLLLKNLLCKQGSPLTQKELAQLARMTDGYSGSDLTALAKDAALGPIRELKP
EQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQTLEAYIRWNKDFGDTTV"
regulatory 3227..3232
/gene="Spast"
/regulatory_class="polyA_signal_sequence"
BASE COUNT 956 a 664 c 703 g 940 t
ORIGIN
1 gctcctgaga ccggcgggca cacgggggtc tgtggccccc gccgtagcag tggctgccgc
61 cgtcgcttgg ttcccgtcgg tctgcgggag gcgggttatg gcggcggcgg cagtgagagc
121 tgtgaatgaa ttctccgggt ggacgaggga agaagaaagg ctccggcggc gccagcaacc
181 cggtgcctcc caggcctccg cccccttgcc tggcccccgc ccctcccgcc gccgggccgg
241 cccctccgcc cgagtcgccg cataagcgga acctgtacta tttctcctac ccgctgtttg
301 taggcttcgc gctgctgcgt ttggtcgcct tccacctggg gctcctcttc gtgtggctct
361 gccagcgctt ctcccgcgcc ctcatggcag ccaagaggag ctccggggcc gcgccagcac
421 ctgcctcggc ctcggccccg gcgccggtgc cgggcggcga ggccgagcgc gtccgagtct
481 tccacaaaca ggccttcgag tacatctcca ttgccctgcg catcgatgag gatgagaaag
541 caggacagaa ggagcaagct gtggaatggt ataagaaagg tattgaagaa ctggaaaaag
601 gaatagctgt tatagttaca ggacaaggtg aacagtgtga aagagctaga cgccttcaag
661 ctaaaatgat gactaatttg gttatggcca aggaccgctt acaacttcta gagaagatgc
721 aaccagtttt gccattttcc aagtcacaaa cggacgtcta taatgacagt actaacttgg
781 catgccgcaa tggacatctc cagtcagaaa gtggagctgt tccaaaaaga aaagacccct
841 taacacacac tagtaattca ctgcctcgtt caaaaacagt tatgaaaact ggatctgcag
901 gcctttcagg ccaccataga gcacctagtt acagtggttt atccatggtt tctggagtga
961 aacagggatc tggtcctgct cctaccactc ataagggtac tccgaaaaca aataggacaa
1021 ataaaccttc tacccctaca actgctactc gtaagaaaaa agacttgaag aattttagga
1081 atgtggacag caaccttgct aaccttataa tgaatgaaat tgtggacaat ggaacagctg
1141 ttaaatttga tgatatagct ggtcaagact tggcaaaaca agcattgcaa gaaattgtta
1201 ttcttccttc tctgaggcct gagttgttca cagggcttag agctcctgcc agagggctgt
1261 tactctttgg tccacctggg aatgggaaga caatgctggc taaagcagta gctgcagaat
1321 cgaatgcaac cttctttaat ataagtgctg caagtttaac ttcaaaatac gtgggagaag
1381 gagagaaatt ggtgagggct ctttttgctg tggctcgaga acttcaacct tctataattt
1441 ttatagatga agttgatagc cttttgtgtg aaagaagaga aggggagcac gatgctagta
1501 gacgcctaaa aactgaattt ctaatagaat ttgatggtgt acagtctgct ggagatgaca
1561 gagtacttgt aatgggtgca actaataggc cacaagagct tgatgaggct gttctcaggc
1621 gtttcatcaa acgggtatat gtgtctttac caaatgagga gacaagacta cttttgctta
1681 aaaatctgtt atgtaaacaa ggaagtccat tgacccaaaa agaactagca caacttgcta
1741 gaatgactga tggatactca ggaagtgacc taacagcttt ggcaaaagat gcagcactgg
1801 gtcctatccg agaactaaaa ccagaacagg tgaagaatat gtctgccagt gagatgagaa
1861 atattcgatt atctgacttc actgaatcct tgaaaaaaat aaaacgcagc gtcagccctc
1921 aaactttaga agcgtacata cgttggaaca aggactttgg agataccact gtttaaggaa
1981 atacctttgt aaacctgcag aacattttac ttaaaagagg aaacacaaga tcttcaatga
2041 acgtcatcgg ctacagaaac agcctaagtt tacaggactt tttagagtct tacatatttg
2101 tgcaccaaac ttgaagatga accagaaaac agacttaaac aaaatataca atgcaaatgt
2161 aattttttgt tgtttaaggc cttgccttga tggtcacagt tatcccaatg gacactaagt
2221 tagagcacaa caaaacctga ttctggtctt ctttaccaat ataatcataa tgtaaataat
2281 aatttgtata ttgtgttgca gatgaaagta ttccaggaac agtgaatggt agaagacaca
2341 agaacatttg tttgtttgtc ttctgatgtt ttttcttaaa atagtaattt ctcctacttt
2401 tcttttctac tgttgtctta actacaggtg attggaatgc caaacactct taagtttatt
2461 ttcttttttc gttttataaa ttcagtgtgc caaatgaaac ttttttccta agtaactgta
2521 ataggaaaaa gtttattttg agagtttctt cttcataaat ctacagacat taaacaattg
2581 ttgtgttctt tttacctttt atttttctat taccttgcta ccaaacagtt tagatagcaa
2641 tataatagca aaaaagcaaa tatggtaaaa tagagaaggt ttgaaggttt gagttactct
2701 gtcatataac atgtagatca gtcttcatgt gacctgcagt attttttttt ctaatgtatt
2761 tgtcagaaat ctgttgtaga ctgttaactt cttcctgatg gaatttattt tctgcaagaa
2821 ttattctgat atttaagaga gccaatttta actgctgtga aaatgtttcc agtgcaagag
2881 aagggaaata ctaggaacta agacatttct aatttattgc ttattacttt cttaatttta
2941 caggataatt ataagcaagt ggaactacca tcttttattc ttaataatta ttaatccctt
3001 caatgaaact ttaaaaaaac tgaattttta tacatggcat acatttttct agttccttct
3061 gcttgcttta ttaactcaaa agttctagtt ctagtctgtt gatctgcctt ttgttctccc
3121 aaaatgtaca gtaattccat ttgtttgtat aaatatgcct ggattttcat tataaaaatg
3181 tcattgtagg gagtagagac tcatatcatg gccttttaaa tattgtaata aaggcaaata
3241 gatatttgcc cttagtttac tgg
//