LOCUS AF533891 3042 bp mRNA linear HUM 25-MAR-2003
DEFINITION Homo sapiens grey-lethal osteopetrosis (GL) mRNA, complete cds.
ACCESSION AF533891
VERSION AF533891.1
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 3042)
AUTHORS Chalhoub,N., Benachenhou,N., Rajapurohitam,V., Pata,M., Ferron,M.,
Frattini,A., Villa,A. and Vacher,J.
TITLE Grey-lethal mutation induces severe malignant autosomal recessive
osteopetrosis in mouse and human
JOURNAL Nat. Med. 9 (4), 399-406 (2003)
PUBMED 12627228
REFERENCE 2 (bases 1 to 3042)
AUTHORS Chalhoub,N., Benachenhou,N., Rajapurohitam,V., Pata,M. and
Vacher,J.
TITLE Direct Submission
JOURNAL Submitted (02-AUG-2002) Cellular Interactions and Development,
Clinical Research Institute of Montreal, University of Montreal,
110 Pine Avenue West, Montreal, Quebec H2W 1R7, Canada
FEATURES Location/Qualifiers
source 1..3042
/db_xref="H-InvDB:HIT000081355"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="between NR2E1 and SEC63"
gene 1..3042
/gene="GL"
CDS 71..1075
/gene="GL"
/note="similar to HSPC019"
/codon_start=1
/product="grey-lethal osteopetrosis"
/protein_id="AAO72749.1"
/translation="MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFH
DLLSEQQLLEVEDLSLSLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCL
VRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSE
FFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYS
EVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCS
VPCSDTVPVIAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN
"
BASE COUNT 901 a 542 c 618 g 981 t
ORIGIN
1 gcggctgtcc gcggtgccgg ctgggggcgg agaggcggcg gtgggctccc tggggtgtgt
61 gagcccggtg atggagccgg gcccgacagc cgcgcagcgg aggtgttcgt tgccgccgtg
121 gctgccgctg gggctgctgc tgtggtcggg gctggccctg ggcgcgctcc ccttcggcag
181 cagtccgcac agggtcttcc acgacctcct gtcggagcag cagttgctgg aggtggagga
241 cttgtccctg tccctcctgc agggtggagg gctggggcct ctgtcgctgc ccccggacct
301 gccggatctg gatcctgagt gccgggagct cctgctggac ttcgccaaca gcagcgcaga
361 gctgacaggg tgtctggtgc gcagcgcccg gcccgtgcgc ctctgtcaga cctgctaccc
421 cctcttccaa caggtcgtca gcaagatgga caacatcagc cgagccgcgg ggaatacttc
481 agagagtcag agttgtgcca gaagtctctt aatggcagat agaatgcaaa tagttgtgat
541 tctctcagaa ttttttaata ccacatggca ggaggcaaat tgtgcaaatt gtttaacaaa
601 caacagtgaa gaattatcaa acagcacagt atatttcctt aatctattta atcacaccct
661 gacctgcttt gaacataacc ttcaggggaa tgcacatagt cttttacaga caaaaaatta
721 ttcagaagta tgcaaaaact gccgtgaagc atacaaaact ctgagtagtc tgtacagtga
781 aatgcaaaaa atgaatgaac ttgagaataa ggctgaacct ggaacacatt tatgcattga
841 tgtggaagat gcaatgaaca tcactcgaaa actatggagt cgaactttca actgttcagt
901 cccttgcagt gacacagtgc ctgtaattgc tgtttctgtg ttcattctct ttctacctgt
961 tgtcttctac cttagtagct ttcttcactc agagcaaaag aaacgcaaac tcattctgcc
1021 caaacgtctc aagtccagta ccagttttgc aaatattcag gaaaattcaa actgagacct
1081 acaaaatgga gaattgacat atcacgtgaa tgaatggtgg aagacacaac ttggtttcag
1141 aaagaagata aactgtgatt tgacaagtca agctcttaag aaatacaagg acttcagatc
1201 catttttaaa taagaatttt cgatttttct ttccttttcc acttctttct aacagatttg
1261 gatattttta atttccaggc atagcaatgt tatctatttt aatgtgtatt tgtcacaata
1321 acagaacatg caagaacaat cattatttta ttttataggc atttgattac tattctagac
1381 ttctggtatc ttcttactaa cataaatatc tcaagtagaa aagtttttga aaactaacat
1441 ttaaaaatta atcagttaca gtaaagactt tgaaaaagaa atgtacttgt taggaagtag
1501 cttaattacc ccccattgca gtattattgt tatatatata gttaatatgt tgtacatcac
1561 aataatatat aattcagtct ctagtttccc tagagtcatt tttgaaacca ctgattgcaa
1621 acctccctga caatttttaa aagtagtaag ccacattaca tttatctttg taaaaagatt
1681 tatggtaact ggtttcttac ttgactttta taaatagtat tttacatctt atttttgcct
1741 ttatttcata agtaatttaa aaatcactgg attgctttat tatattcagg gcaatatgga
1801 ttatttttat accaaggatt tgcatcgtga attacattaa gttatttggc aatttataat
1861 ttattactac tttaaatcaa atgtagcatt atcacactgt atttaaattg tcatttttta
1921 aaggaatatt ttcttcttaa gatatataga ggattttgga gaagagagac aggaggggta
1981 aaaccagctt aaggttcagc gagcagaaag ggacctgaga ggatgctcac tgtaagactg
2041 ttggacagtg gtgtgtattg aggggatgaa tcggaacgat agtctcatgc agaaaatagt
2101 gagattaaga tcatccttat tgtttctaaa ttatttcaat cagatgaaag tgatacgatt
2161 gaaatgaaat cacatagttc gtgctcagaa attctatttt ggtatgtttg tattagcctt
2221 tagaaaaaac actccgtttc agaattgttc acagttttat ttcttaggtt tttagagttc
2281 aggatttcat ttattaattt cttcttgctt ttttggtgga aataggcttt gttgtaaaca
2341 ttaagaatat aaaatctcct ctatatagaa acaagaattt tgttaaaaag agaatttgaa
2401 tcccttccta tactataaaa tgctctatag ggagacaaag tgtttctttt ttcttttatg
2461 tttactgttt atgtggagtg aaatataagg ctcttggatg tataacatac tcaaaagctg
2521 ttacactttc tctgatctgc tgtgatccac tgaaaatgtg ctggggtttg ttctgctgtc
2581 actgtttatg ctgctggaac ttagcactgt cttgatttga agcatatgat tgagagccat
2641 ttgaagcaat cttcattaat gcagataaaa caagtttaca tgtgcagagt tagaaaatga
2701 catgttcaat tctgtaagtg gtgacttttt gagcaccttt cagtattatg tatttgtaaa
2761 aaccattgtt tttggatata aagctaataa gcactttaaa aaggaaaagg cagcctttac
2821 tattttttct ggttgagtca ttgctcttta gacctagcat cagcaataga tttcaaagat
2881 aagtattaag cgctacccta aagtgtgtaa gtttttcatt ttgtcatatt gaaaaatgat
2941 ttgcatagta ctgaatgttg acacacagct tatatgtatt tacaagaata tctttaagtg
3001 tttttttgac acattaaaat aaaggaaata aggaaattgt aa
//