LOCUS EF469766 3987 bp mRNA linear HUM 28-APR-2007
DEFINITION Homo sapiens Fanconi anemia complementation group I isoform 3
(FANCI) mRNA, complete cds, alternatively spliced.
ACCESSION EF469766
VERSION EF469766.1
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 3987)
AUTHORS Smogorzewska,A., Matsuoka,S., Vinciguerra,P., McDonald,E.R.,
Hurov,K.E., Luo,J., Ballif,B.A., Gygi,S.P., Hofmann,K.,
D'Andrea,A.D. and Elledge,S.J.
TITLE Identification of the FANCI protein, a monoubiquitinated FANCD2
paralog required for DNA repair
JOURNAL Cell 129 (2), 289-301 (2007)
PUBMED 17412408
REFERENCE 2 (bases 1 to 3987)
AUTHORS Smogorzewska,A., Matsuoka,S. and Elledge,S.J.
TITLE Direct Submission
JOURNAL Submitted (05-MAR-2007) Genetics, Harvard Medical School, 77 Avenue
Louis Pasteur, Boston, MA 02215, USA
FEATURES Location/Qualifiers
source 1..3987
/db_xref="H-InvDB:HIT000395498"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q25-q26"
gene 1..3987
/gene="FANCI"
CDS 1..3987
/gene="FANCI"
/note="alternatively spliced; spice variant of KIAA1794;
mutation of this gene results in Fanconi anemia"
/codon_start=1
/product="Fanconi anemia complementation group I isoform
3"
/protein_id="ABP88002.1"
/translation="MDQKILSLAAEKTADKLQEFLQTLREGDLTNLLQNQAVKGKVAG
ALLRAIFKGSPCSEEAGTLRRRKIYTCCIQLVESGDLQKEIVSEIIGLLMLEAHHFPG
PLLVELANEFISAVREGSLVNGKSLELLPIILTALATKKENLAYGKGVLSGEECKKQL
INTLCSGRWDQQYVIQLTSMFKDVPLTAEEVEFVVEKALSMFSKMNLQEIPPLVYQLL
VLSSKGSRKSVLEGIIAFFSALDKQHNEEQSGDELLDVVTVPSGELRHVEGTIILHIV
FAIKLDYELGRELVKHLKVGQQGDSNNNLSPFSIALLLSVTRIQRFQDQVLDLLKTSV
VKSFKDLQLLQGSKFLQNLVPHRSYVSTMILEVVKNSVHSWDHVTQGLVELGFILMDS
YGPKKVLDGKTIETSPSLSRMPNQHACKLGANILLETFKIHEMIRQEILEQVLNRVVT
RASSPISHFLDLLSNIVMYAPLVLQSCSSKVTEAFDYLSFLPLQTVQRLLKAVQPLLK
VSMSMRDCLILVLRKAMFANQLDARKSAVAGFLLLLKNFKVLGSLSSSQCSQSLSVSQ
VHVDVHSHYNSVANETFCLEIMDSLRRCLSQQADVRLMLYEGFYDVLRRNSQLANSVM
QTLLSQLKQFYEPKPDLLPPLKLEACILTQGDKISLQEPLDYLLCCIQHCLAWYKNTV
IPLQQGEEEEEEEEAFYEDLDDILESITNRMIKSELEDFELDKSADFSQSTSIGIKNN
ISAFLVMGVCEVLIEYNFSISSFSKNRFEDILSLFMCYKKLSDILNEKAGKAKTKMAN
KTSDSLLSMKFVSSLLTALFRDSIQSHQESLSVLRSSNEFMRYAVNVALQKVQQLKET
GHVSGPDGQNPEKIFQNLCDLTRVLLWRYTSIPTSVEESGKKEKGKSISLLCLEGLQK
IFSAVQQFYQPKIQQFLRALDVTDKEGEEREDADVSVTQRTAFQIRQFQRSLLNLLSS
QEEDFNSKEALLLVTVLTSLSKLLEPSSPQFVQMLSWTSKICKENSREDALFCKSLMN
LLFSLHVSYKSPVILLRDLSQDIHGHLGDIDQDVEVEKTNHFAIVNLRTAAPTVCLLV
LSQAEKVLEEVDWLITKLKGQVSQETLSEEASSQATLPNQPVEKAIIMQLGTLLTFFH
ELVQTALPSGSCVDTLLKDLCKMYTTLTALVRYYLQVCQSSGGIPKNMEKLVKLSGSH
LTPLCYSFISYVQNKSKSLNYTGEKKEKPAAVATAMARVLRETKPIPNLIFAIEQYEK
FLIHLSKKSKVNLMQHMKLSTSRDFKIKGNILDMVLREDGEDENEEGTASEHGGQNKE
PAKKKRKK"
BASE COUNT 1183 a 819 c 910 g 1075 t
ORIGIN
1 atggaccaga agattttatc tctagcagca gaaaaaacag cagacaaact gcaagaattt
61 cttcaaaccc tgagagaagg tgatttgact aatctccttc agaatcaagc agtgaaagga
121 aaagttgctg gagcactcct gagagccatc ttcaaaggtt ccccctgctc tgaggaagct
181 ggaacactta ggagacgtaa gatatacact tgttgtatcc agttggtgga atcgggggat
241 ttgcagaaag aaatagtgtc tgagatcata ggattactga tgctggaggc tcaccatttt
301 ccaggaccat tattggttga attagccaat gagtttatta gtgctgtcag agaaggcagc
361 ctagtgaatg gaaaatcttt ggagttacta cctatcattc tcactgccct ggctacgaaa
421 aaggaaaatc tggcttatgg aaaaggtgta ctgagtgggg aagaatgtaa gaaacagttg
481 attaacaccc tgtgttctgg caggtgggat cagcaatatg taatccaact cacctccatg
541 ttcaaggatg tccctctgac tgcagaagag gtggaatttg tggtggaaaa agcattgagc
601 atgttctcca agatgaatct tcaagaaata ccacctttgg tctatcagct tctggttctc
661 tcctccaagg gaagcagaaa gagtgttttg gaaggaatca tagccttctt cagtgcacta
721 gataagcagc acaatgagga acagagtggt gacgagctat tggatgttgt cactgtgcca
781 tcaggtgaac ttcgtcatgt ggaaggcacc attattctac acattgtgtt tgccatcaaa
841 ttggactatg aactaggcag agaactcgtg aaacacttaa aggtaggaca gcaaggagat
901 tccaataata acttaagtcc cttcagcatt gctcttcttc tgtctgtaac aagaatacaa
961 agatttcagg accaggtgct tgatctttta aagacttcgg ttgtaaagag ctttaaggat
1021 cttcaactcc tccaaggctc aaaatttctt cagaatctag ttcctcatag atcttatgtt
1081 tcaaccatga tcttggaagt agtgaagaat agcgttcata gctgggacca tgttactcag
1141 ggcctcgtag aacttggttt cattttgatg gattcatatg ggccaaagaa ggttcttgat
1201 ggaaaaacta ttgaaaccag cccaagtctt tctagaatgc caaaccagca tgcatgtaag
1261 ctcggagcta atatcctgtt ggaaactttt aagatccatg agatgatcag acaagaaatt
1321 ttggagcagg tcctcaacag ggttgttacc agagcatctt ctcccatcag tcatttctta
1381 gacctgcttt caaatatcgt catgtatgca cccttagttc ttcaaagttg ttcttctaaa
1441 gtcacagaag cttttgacta tttgtccttt ctgccccttc agactgtaca aaggctgctt
1501 aaggcagtgc agccccttct caaagtcagc atgtcaatga gagactgctt gatacttgtc
1561 cttcggaaag ctatgtttgc caaccagctt gatgcccgaa aatctgcagt tgctgggttt
1621 ttgctgctcc tgaagaactt taaagtttta ggcagcctgt catcctctca gtgcagtcag
1681 tctctcagtg tcagtcaggt tcatgtggat gttcacagcc attacaattc tgtcgccaat
1741 gaaacttttt gccttgagat catggatagt ttgaggagat gcttaagcca gcaagctgat
1801 gttcgactca tgctttatga ggggttttat gatgttcttc gaaggaactc tcagctggct
1861 aattcagtca tgcaaactct gctctcacag ttaaaacagt tctatgagcc aaaacctgat
1921 ctgctgcctc ctctgaaatt agaagcttgt attctgaccc aaggagataa gatctctcta
1981 caagaaccac tggattatct gctgtgttgt attcagcatt gtttggcctg gtataagaat
2041 acagtcatac ccttacagca gggagaggag gaagaggagg aggaagaggc attctacgaa
2101 gacctagatg atatattgga gtccattact aatagaatga ttaagagtga gctggaagac
2161 tttgaactgg ataaatcagc agatttttct cagagcacca gtattggcat aaaaaataat
2221 atctctgctt ttcttgtgat gggagtttgt gaggttttaa tagaatacaa tttctccata
2281 agtagtttca gtaagaatag gtttgaggac attctgagct tatttatgtg ttacaaaaaa
2341 ctctctgaca ttcttaatga aaaagcgggt aaagccaaaa ctaaaatggc caacaagaca
2401 agtgatagtc ttttgtccat gaaatttgtg tccagtcttc tcactgctct tttcagggat
2461 agtatccaaa gccaccaaga aagcctttct gttctcaggt ccagcaatga gtttatgcgc
2521 tatgcagtga atgtagctct gcagaaagta cagcagctaa aggaaacagg gcatgtgagt
2581 ggccctgatg gccaaaaccc agaaaagatc tttcagaacc tctgtgactt aactcgagtc
2641 ttgctatgga gatacacttc aattcctact tcagtggaag agtcgggaaa gaaagagaaa
2701 ggaaagagca tctcactgct gtgcttggag ggtttacaga aaatattcag tgctgtgcaa
2761 cagttctatc agcccaagat tcagcagttt ctcagagctc tggatgtcac agataaggaa
2821 ggagaagaga gagaagatgc agatgtcagt gtcactcaga gaacagcatt ccagatccgg
2881 caatttcaga ggtccttgtt gaatttactt agcagtcaag aggaagattt taatagcaaa
2941 gaagccctcc tgctagtcac ggttcttacc agtttgtcca agttactgga gccctcctct
3001 cctcagtttg tgcagatgtt atcctggaca tcaaagattt gcaaggaaaa cagccgggag
3061 gatgccttgt tttgcaagag cttgatgaac ttgctcttca gcctgcatgt ttcgtataag
3121 agtcctgtca ttctgctgcg tgacttgtcc caggatatcc acgggcatct gggagatata
3181 gaccaggatg tagaggtgga gaaaacaaac cactttgcaa tagtgaattt gagaacggct
3241 gcccccactg tctgtttact tgttctgagt caggccgaga aggttctaga agaagtggac
3301 tggctaatca ccaagcttaa gggacaagtg agccaagaaa ccttatcaga agaggcctct
3361 tctcaggcaa ccctaccaaa tcagcctgtt gagaaagcta tcatcatgca actgggaact
3421 ctgcttacat ttttccacga gctggtgcag acagctctgc catcaggcag ctgtgtggac
3481 accttgttaa aggacttgtg caaaatgtac accacactta cagcccttgt cagatattat
3541 ctccaggtgt gtcagagctc cggaggaatt ccaaaaaata tggaaaagct ggtgaagctg
3601 tctggttctc atctgacccc cctgtgttat tctttcattt cttacgtaca gaataagagt
3661 aagagcctga actatacggg agagaaaaag gagaaacctg ctgccgttgc cacagccatg
3721 gccagagttc ttcgggaaac caagccaatc cctaacctca tctttgccat agaacagtat
3781 gaaaaatttc tcatccacct ttctaagaag tccaaggtga acctgatgca gcacatgaag
3841 ctcagcacct cacgagactt caagatcaaa ggaaacatcc tagacatggt tcttcgagag
3901 gatggcgaag atgaaaatga agagggcact gcatcagagc atgggggaca gaacaaagaa
3961 ccagccaaga agaaaaggaa aaaataa
//