LOCUS HUMNF1AAA 2621 bp mRNA linear HUM 27-DEC-2006
DEFINITION Homo sapiens mRNA for NF1 N-isoform-exon11, complete cds.
ACCESSION D42072
VERSION D42072.1
KEYWORDS neurofibromin.
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 2621)
AUTHORS Shibahara,S.
TITLE Direct Submission
JOURNAL Submitted (09-NOV-1994) to the DDBJ/EMBL/GenBank databases.
Contact:Shigeki Shibahara
Tohoku University School of Medicine, Dept. of Applied Physiol.
and Mol. Biol.; 2-1 Seiryomachi, Aoba-ku, Sendai, Miyagi 980, Japan
REFERENCE 2
AUTHORS Suzuki,H., Takahashi,K., Kubota,Y. and Shibahara,S.
TITLE Molecular cloning of a cDNA coding for neurofibromatosis type 1
protein isoform lacking the domain related to ras
GTPase-activating protein
JOURNAL Biochem. Biophys. Res. Commun. 187, 984-990 (1992)
REFERENCE 3
AUTHORS Suzuki,H., Takahashi,K. and Shibahara,S.
TITLE Evidence for the presence of two amino-terminal isoforms of
neurofibromin, a gene product responsible for neurofibromatosis
type 1
JOURNAL Tohoku J. Exp. Med. 175, 225-233 (1995)
COMMENT
FEATURES Location/Qualifiers
source 1..2621
/chromosome="17"
/clone="pHN-1"
/db_xref="H-InvDB:HIT000101463"
/db_xref="taxon:9606"
/map="17q11.2"
/mol_type="mRNA"
/organism="Homo sapiens"
/tissue_type="kidney"
CDS 66..1847
/codon_start=1
/gene="NF1"
/note="A novel neurofibromin isoform lacking a domain
related to GTPase-activating protein"
/product="NF1 N-isoform-exon11"
/protein_id="BAA07669.1"
/translation="MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLI
NISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTM
RLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTR
LQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEK
AFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLIL
CPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYI
NWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQ
HFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKA
VQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLL
CNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAP
VETFWEIRYMYFYFLNSTFKFYFVFLS"
variation 767
/replace="g"
BASE COUNT 824 a 489 c 493 g 815 t
ORIGIN
1 ccctcttccc ggcccagggc gccggcccac ccttccctcc gccgcccccc ggccgcgggg
61 aggacatggc cgcgcacagg ccggtggaat gggtccaggc cgtggtcagc cgcttcgacg
121 agcagcttcc aataaaaaca ggacagcaga acacacatac caaagtcagt actgagcaca
181 acaaggaatg tctaatcaat atttccaaat acaagttttc tttggttata agcggcctca
241 ctactatttt aaagaatgtt aacaatatga gaatatttgg agaagctgct gaaaaaaatt
301 tatatctctc tcagttgatt atattggata cactggaaaa atgtcttgct gggcaaccaa
361 aggacacaat gagattagat gaaacgatgc tggtcaaaca gttgctgcca gaaatctgcc
421 attttcttca cacctgtcgt gaaggaaacc agcatgcagc tgaacttcgg aattctgcct
481 ctggggtttt attttctctc agctgcaaca acttcaatgc agtctttagt cgcatttcta
541 ccaggttaca ggaattaact gtttgttcag aagacaatgt tgatgttcat gatatagaat
601 tgttacagta tatcaatgtg gattgtgcaa aattaaaacg actcctgaag gaaacagcat
661 ttaaatttaa agccctaaag aaggttgcgc agttagcagt tataaatagc ctggaaaagg
721 cattttggaa ctgggtagaa aattatccag atgaatttac aaaactatac cagatcccac
781 agactgatat ggctgaatgt gcagaaaagc tatttgactt ggtggatggt tttgctgaaa
841 gcaccaaacg taaagcagca gtttggccac tacaaatcat tctccttatc ttgtgtccag
901 aaataatcca ggatatatcc aaagacgtgg ttgatgaaaa caacatgaat aagaagttat
961 ttctggacag tctacgaaaa gctcttgctg gccatggagg aagtaggcag ctgacagaaa
1021 gtgctgcaat tgcctgtgtc aaactgtgta aagcaagtac ttacatcaat tgggaagata
1081 actctgtcat tttcctactt gttcagtcca tggtggttga tcttaagaac ctgcttttta
1141 atccaagtaa gccattctca agaggcagtc agcctgcaga tgtggatcta atgattgact
1201 gccttgtttc ttgctttcgt ataagccctc acaacaacca acactttaag atctgcctgg
1261 ctcagaattc accttctaca tttcactatg tgctggtaaa ttcactccat cgaatcatca
1321 ccaattccgc attggattgg tggcctaaga ttgatgctgt gtattgtcac tcggttgaac
1381 ttcgaaatat gtttggtgaa acacttcata aagcagtgca aggttgtgga gcacacccag
1441 caatacgaat ggcaccgagt cttacattta aagaaaaagt aacaagcctt aaatttaaag
1501 aaaaacctac agacctggag acaagaagct ataagtatct tctcttgtcc atggtgaaac
1561 taattcatgc agatccaaag ctcttgcttt gtaatccaag aaaacagggg cccgaaaccc
1621 aaggcagtac agcagaatta attacagggc tcgtccaact ggtccctcag tcacacatgc
1681 cagagattgc tcaggaagca atggaggctc tgctggttct tcatcagtta gatagcattg
1741 atttgtggaa tcctgatgct cctgtagaaa cattttggga gattaggtat atgtactttt
1801 attttttaaa ttcaactttt aaattttatt ttgtattttt gtcttgaaat attaactctg
1861 tagtacttag tacattgtaa aacttacact tccaaaggtt ttatggtttt gtattttatt
1921 tgacttcaaa ttattagaat ttcttgtttt aactgtaaga aaagtatcac agcaatttag
1981 aaaataaatt ttaagaatag tgctaaattt tgtcacccta acataagtac tgttgtttgg
2041 tatattactt ttttcagatt tcaatgtggt tactactgta tttttaatag attttcatag
2101 ttataagcct agaatgataa aattttgtaa caatactgtt ttttcagttt tttgaactat
2161 gatctttcat aaactttctg taataccaat gctttcgatg aatgaattaa taatggacac
2221 ctgcttagaa gaaaaaaatg tatgcagaat tttgtggtct gcttcctaga ttatacaaat
2281 cattacattt taatgagcat gaagtcacca cacggaggaa aatgtaaatg tgtaaacctc
2341 aagtttgcca ttatcttata agaatgggtg tgctaagtta cttggcagct gaattaaacc
2401 ttactctaga gtagtgctgt ccactagtaa tataatgaga accccatatg ttaaaaactt
2461 ttttacttac tacattaaag agtaaaaaga agcaggtaaa attaattgta attatgtttt
2521 gtttaacccg gtgtatatta tctataattt caacatgtaa tcaatataaa agttattaat
2581 gacatttcat tctctttttt ttaataaagt cttcaaactt t
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