LOCUS HUMNF1ISO 2265 bp mRNA linear HUM 13-FEB-2003
DEFINITION Homo sapiens NF1 mRNA for NF1 protein isoform, complete cds.
ACCESSION D12625
VERSION D12625.1
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 2265)
AUTHORS Shibahara,S.
TITLE Direct Submission
JOURNAL Submitted (13-JUL-1992) 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 Xu,G., O'Connell,P., Viskochil,D., Robertson,M., Culver,M.,
Dunn,D., Stevens,J., Gesteland,R., White,R. and Weiss,R.
TITLE The Neurofibromatosis type 1 gene encodes a protein related to GAP
JOURNAL Cell 62, 599-608 (1990)
REFERENCE 3
AUTHORS Marchuk,D., Saulino,A., Tavakkol,R., Swaroop,M., Wallace,M.,
Andersen,L., Mitchell,A., Gutmann,D., Boguski,M.S. and Collins,F.
TITLE cDNA cloning of the type 1 Neurofibromatosis gene: Complete
sequence of the NF1 gene product
JOURNAL Genomics 11, 931-940 (1991)
REFERENCE 4
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)
COMMENT
FEATURES Location/Qualifiers
source 1..2265
/clone="pHN-3"
/db_xref="H-InvDB:HIT000100455"
/db_xref="taxon:9606"
/mol_type="mRNA"
/organism="Homo sapiens"
/tissue_type="placenta"
CDS 384..2039
/codon_start=1
/gene="NF1"
/note="lacking a domain related to ras GTPase-activating
protein"
/note="nuerofibromatosis type 1"
/product="NF1 protein isoform"
/protein_id="BAA02150.1"
/translation="MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLI
NISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTM
RLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTR
LQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEK
AFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLIL
CPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYI
NWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQ
HFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKA
VQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLL
CNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEVRGK"
variation 1085
/citation=[2]
/citation=[3]
/replace="g"
variation 1772
/citation=[2]
/citation=[3]
/replace="c"
variation 1871
/citation=[2]
/citation=[3]
/note="amino acid substitution (M to I)"
/replace="a"
regulatory 2244..2249
/regulatory_class="polyA_signal_sequence"
polyA_site 2265
BASE COUNT 636 a 545 c 487 g 597 t
ORIGIN
1 aatctctagc tcgctcgcgc tccctctccc cgggccgtgg aaaggatccc acttccggtg
61 gggtgtcatg gcggcgtctc ggactgtgat ggctgtgggg agacggcgct agtggggaga
121 gcgaccaaga ggccccctcc cctccccggg tccccttccc ctatccccct ccccccagcc
181 tccttgccaa cgcccccttt ccctctcccc ctcccgctcg gcgctgaccc cccatcccca
241 cccccgtggg aacactggga gcctgcactc cacagaccct ctccttgcct cttccctcac
301 ctcagcctcc gctccccgcc ctcttcccgg cccagggcgc cggcccaccc ttccctccgc
361 cgccccccgg ccgcggggag gacatggccg cgcacaggcc ggtggaatgg gtccaggccg
421 tggtcagccg cttcgacgag cagcttccaa taaaaacagg acagcagaac acacatacca
481 aagtcagtac tgagcacaac aaggaatgtc taatcaatat ttccaaatac aagttttctt
541 tggttataag cggcctcact actattttaa agaatgttaa caatatgaga atatttggag
601 aagctgctga aaaaaattta tatctctctc agttgattat attggataca ctggaaaaat
661 gtcttgctgg gcaaccaaag gacacaatga gattagatga aacgatgctg gtcaaacagt
721 tgctgccaga aatctgccat tttcttcaca cctgtcgtga aggaaaccag catgcagctg
781 aacttcggaa ttctgcctct ggggttttat tttctctcag ctgcaacaac ttcaatgcag
841 tctttagtcg catttctacc aggttacagg aattaactgt ttgttcagaa gacaatgttg
901 atgttcatga tatagaattg ttacagtata tcaatgtgga ttgtgcaaaa ttaaaacgac
961 tcctgaagga aacagcattt aaatttaaag ccctaaagaa ggttgcgcag ttagcagtta
1021 taaatagcct ggaaaaggca ttttggaact gggtagaaaa ttatccagat gaatttacaa
1081 aactatacca gatcccacag actgatatgg ctgaatgtgc agaaaagcta tttgacttgg
1141 tggatggttt tgctgaaagc accaaacgta aagcagcagt ttggccacta caaatcattc
1201 tccttatctt gtgtccagaa ataatccagg atatatccaa agacgtggtt gatgaaaaca
1261 acatgaataa gaagttattt ctggacagtc tacgaaaagc tcttgctggc catggaggaa
1321 gtaggcagct gacagaaagt gctgcaattg cctgtgtcaa actgtgtaaa gcaagtactt
1381 acatcaattg ggaagataac tctgtcattt tcctacttgt tcagtccatg gtggttgatc
1441 ttaagaacct gctttttaat ccaagtaagc cattctcaag aggcagtcag cctgcagatg
1501 tggatctaat gattgactgc cttgtttctt gctttcgtat aagccctcac aacaaccaac
1561 actttaagat ctgcctggct cagaattcac cttctacatt tcactatgtg ctggtaaatt
1621 cactccatcg aatcatcacc aattccgcat tggattggtg gcctaagatt gatgctgtgt
1681 attgtcactc ggttgaactt cgaaatatgt ttggtgaaac acttcataaa gcagtgcaag
1741 gttgtggagc acacccagca atacgaatgg caccgagtct tacatttaaa gaaaaagtaa
1801 caagccttaa atttaaagaa aaacctacag acctggagac aagaagctat aagtatcttc
1861 tcttgtccat ggtgaaacta attcatgcag atccaaagct cttgctttgt aatccaagaa
1921 aacaggggcc cgaaacccaa ggcagtacag cagaattaat tacagggctc gtccaactgg
1981 tccctcagtc acacatgcca gagattgctc aggaagcaat ggaggtaagg ggaaaatgaa
2041 ttccatgttc ttgaaggaaa gactgtaact atgtacattc atgatgttcc tttggtgtgt
2101 ggtttctgtg agtaacaggt agatgtcatt tctggaaatg gtatgtttat gtctatacat
2161 tgttttataa aactccatgg agaaagaagg ggtttacttg ctttgtatca catagcaata
2221 acattgtaca aattctgatg cttaataaaa tagttcgaga ttttc
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