LOCUS Z83067 968 bp DNA linear HUM 14-NOV-2006
DEFINITION H.sapiens Fanconi anaemia group A gene, exon 1 and joined CDS.
ACCESSION Z83067
VERSION Z83067.1
KEYWORDS FAA gene; Fanconi anaemia.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1
AUTHORS Ianzano L., D'Apolito M., Centra M., Savino M., Levran O.,
Auerbach A.D., Cleton-Jansen A.M., Doggett N.A., Pronk J.C.,
Tipping A.J., Gibson R.A., Mathew C.G., Whitmore S.A.,
Apostolou S., Callen D.F., Zelante L., Savoia A.
TITLE The genomic organization of the Fanconi anemia group A (FAA) gene
JOURNAL Genomics 41(3), 309-314(1997).
PUBMED 9169126
REFERENCE 2 (bases 1 to 968)
AUTHORS Savoia A.
JOURNAL Submitted (08-NOV-1996) to the INSDC. Savoia A., Servizio di
Genetica Medica, I.R.C.C.S. - Ospedale CSS, Viale Cappuccini,
I-71013 San Giovanni Rotondo, Foggia, ITALY
COMMENT Related sequences: Nature Genet. 14:320-323(1996), 14:324-328(1996)
FEATURES Location/Qualifiers
source 1..968
/organism="Homo sapiens"
/chromosome="16"
/map="16q24.3"
/mol_type="genomic DNA"
/clone_lib="chromosome 16 cosmid library"
/clone="c444B9"
/db_xref="taxon:9606"
repeat_region 1..342
/rpt_family="Alu"
exon 43..865
/gene="FAA"
/number=1
CDS join(787..865,Z83068.1:205..314,Z83069.1:174..267,
Z83070.1:126..268,Z83070.1:395..490,Z83151.1:341..414,
Z83071.1:204..316,Z83072.1:254..336,Z83073.1:235..268,
Z83073.1:641..707,Z83074.1:143..255,Z83075.1:259..335,
Z83075.1:738..879,Z83075.1:1270..1403,Z83076.1:150..260,
Z83077.1:207..302,Z83077.1:391..450,Z83078.1:265..353,
Z83079.1:240..300,Z83079.1:393..442,Z83080.1:339..412,
Z83081.1:265..378,Z83082.1:332..468,Z83083.1:282..352,
Z83083.1:657..750,Z83083.1:892..1079,Z83084.1:232..328,
Z83085.1:324..500,Z83086.1:424..497,Z83087.1:234..362,
Z83088.1:196..280,Z83089.1:222..394,Z83090.1:308..416,
Z83091.1:100..159,Z83091.1:302..406,Z83092.1:273..385,
Z83093.1:251..389,Z83094.1:330..392,Z83095.1:164..269,
Z83095.1:710..785,Z83095.1:974..1130,Z83095.1:1290..1382,
Z83095.1:1556..1663)
/gene="FAA"
/db_xref="GOA:O15360"
/db_xref="HGNC:HGNC:3582"
/db_xref="InterPro:IPR003516"
/db_xref="InterPro:IPR031729"
/db_xref="UniProtKB/Swiss-Prot:O15360"
/protein_id="CAB05445.1"
/translation="MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLK
ESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQA
SRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSM
FSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLC
EQMEASCQHADVARAMLSDFVQMFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIF
ALDALAAGVQEESSTHKIVRCWFGVFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVL
KASDAVQMQREWSFARTHPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSF
VSALVVCFPEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYAD
WFKASFGSTRGYHGCSKKALVFLFTFLSELVPFESPRYLQVHILHPPLVPSKYRSLLT
DYISLAKTRLADLKVSIENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEHTGNIPV
TVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSRVAFIESLKRADKIPPSLYSTYCQA
CSAAEEKPEDAALGVRAEPNSAEEPLGQLTAALGELRASMTDPSQRDVISAQVAVISE
RLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVDLLLTSFCQNLMAASSVAPPE
RQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSAL
PEVDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAAISYSLCKFSSQSRDTL
CSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPSADWQRAALSLWTHR
TFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIHEHFLPESSASGG
CDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLEL
QQDLIVPLGHTPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSS
VLCGSSFQAEQPITARCEQFFHLVNSEMRNFCSHGGALTQDITAHFFRGLLNACLRSR
DPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKLQEGR
QFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFLFF
FSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLL
RVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSP
PAGRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAAL
QSRQQAAPDADLSQEPHLF"
intron 866..>968
/number=1
BASE COUNT 191 a 327 c 325 g 124 t
ORIGIN
1 ctgggccaac atggcgaaac gctgtctcta ctaaaaataa caaaaaatca tccaggcgtg
61 gtggcgcgca cctgcaatcc cagctactcg ggaggctgag gcaggagaat cacctgaacc
121 caggaggcag acgttgcagt gagccgagat cgcgccactg cactccagcc tgggcgacag
181 agggagactc cgtctcaaaa aaaggaaaaa aaaaaaaaag aaaagaaana aaagtgatgg
241 ggtctcgctc tgttgcccag gctagtctgg aattcctggg ctcaagcgac cctccagcct
301 cggcctccca aagcgctggg aatacaggcg cggctaccgc gcggtctccg gctgccgaaa
361 caccgccctg cgcgcggacc gttcggccgc cgggaggaac agcggctgcc cggagctcag
421 aggcgcgcgc ggctttgcgc tccccgcggc gctctgagcc tgcctcggct tggttggcca
481 ggtggtctct tcaggaccaa ccccagtcat ttcccggcag gaaccacgct tgaggggcgg
541 cagtctgccc gcgcgagacg cccccgcgga ctacaccgcg gcggcaaagc caaaacgcag
601 aaacgtacct caccgcgcgc aggcgcatcc cccaggacca acatggccac gacgcaaggc
661 ctcgacatga ggggcgtggc ctggccgccg ccagccaacg ggtgtgcgcg cctggccgca
721 gccaatagga aggcagcgcg ggctcgggcg cagggagccg ccgccggggc tgtaggcgcc
781 aaggccatgt ccgactcgtg ggtcccgaac tccgcctcgg gccaggaccc agggggccgc
841 cggagggcct gggccgagct gctgggtagg tgggcgcggc aggccgcggg agtgggcggc
901 gtccggcccg ggacggtttc gccggttccc cgatcccttc ccgccagagc ctccgccggt
961 cggatccc
//