LOCUS HUMCIX 2775 bp mRNA linear HUM 01-NOV-1994
DEFINITION Human coagulation factor IX mRNA, complete cds.
ACCESSION M11309
VERSION M11309.1
KEYWORDS clotting factor; clotting factor IX; coagulation factor;
coagulation factor IX; factor IX.
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 2775)
AUTHORS McGraw,R.A., Davis,L.M., Noyes,C.M., Lundblad,R.L., Roberts,H.R.,
Graham,J.B. and Stafford,D.W.
TITLE Evidence for a prevalent dimorphism in the activation peptide of
human coagulation factor IX
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 82 (9), 2847-2851 (1985)
PUBMED 3857619
REFERENCE 2 (bases 214 to 222; 313 to 321; 877 to 885)
AUTHORS Chen,S.H., Thompson,A.R., Zhang,M. and Scott,C.R.
TITLE Three point mutations in the factor IX genes of five hemophilia B
patients. Identification strategy using localization by altered
epitopes in their hemophilic proteins
JOURNAL J. Clin. Invest. 84 (1), 113-118 (1989)
PUBMED 2472424
COMMENT Original source text: Human liver cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..2775
/db_xref="H-InvDB:HIT000194108"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="Xq26.3-q27.1"
gene 1..2775
/gene="F9"
mRNA <1..2775
/gene="F9"
/product="CIX mRNA"
CDS 1..1386
/gene="F9"
/note="coagulation factor IX precursor"
/codon_start=1
/protein_id="AAA52023.1"
/db_xref="GDB:G00-119-900"
/translation="MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRP
KRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPC
LNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEG
YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQST
QSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKIT
VVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPI
CIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYN
NMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRY
VNWIKEKTKLT"
sig_peptide 1..138
/gene="F9"
/note="coagulation factor IX signal peptide"
mat_peptide 139..573
/gene="F9"
/product="coagulation factor IX light chain"
mat_peptide 574..678
/gene="F9"
/product="coagulation factor IX activation peptide"
mat_peptide 679..1383
/gene="F9"
/product="coagulation factor IX heavy chain"
variation 217
/gene="F9"
/note="g in wt; a in hemophilia Seattle 3 (Glu->Lys) [2]"
variation 316
/gene="F9"
/note="g in wt; a in hemophilia Durham (Gly->Ser) [2]"
variation 580
/gene="F9"
/note="a in allele 1; g in allele 2 (Thr-> Ala)"
variation 881
/gene="F9"
/note="g in wt; a in hemophilia Seattle 4 (Arg->Gln) [2]"
BASE COUNT 859 a 528 c 564 g 824 t
ORIGIN Chromosome Xq26.3-q27.2.
1 atgcagcgcg tgaacatgat catggcagaa tcaccaggcc tcatcaccat ctgcctttta
61 ggatatctac tcagtgctga atgtacagtt tttcttgatc atgaaaacgc caacaaaatt
121 ctgaatcggc caaagaggta taattcaggt aaattggaag agtttgttca agggaacctt
181 gagagagaat gtatggaaga aaagtgtagt tttgaagaag cacgagaagt ttttgaaaac
241 actgaaagaa caactgaatt ttggaagcag tatgttgatg gagatcagtg tgagtccaat
301 ccatgtttaa atggcggcag ttgcaaggat gacattaatt cctatgaatg ttggtgtccc
361 tttggatttg aaggaaagaa ctgtgaatta gatgtaacat gtaacattaa gaatggcaga
421 tgcgagcagt tttgtaaaaa tagtgctgat aacaaggtgg tttgctcctg tactgaggga
481 tatcgacttg cagaaaacca gaagtcctgt gaaccagcag tgccatttcc atgtggaaga
541 gtttctgttt cacaaacttc taagctcacc cgtgctgaga ctgtttttcc tgatgtggac
601 tatgtaaatt ctactgaagc tgaaaccatt ttggataaca tcactcaaag cacccaatca
661 tttaatgact tcactcgggt tgttggtgga gaagatgcca aaccaggtca attcccttgg
721 caggttgttt tgaatggtaa agttgatgca ttctgtggag gctctatcgt taatgaaaaa
781 tggattgtaa ctgctgccca ctgtgttgaa actggtgtta aaattacagt tgtcgcaggt
841 gaacataata ttgaggagac agaacataca gagcaaaagc gaaatgtgat tcgaattatt
901 cctcaccaca actacaatgc agctattaat aagtacaacc atgacattgc ccttctggaa
961 ctggacgaac ccttagtgct aaacagctac gttacaccta tttgcattgc tgacaaggaa
1021 tacacgaaca tcttcctcaa atttggatct ggctatgtaa gtggctgggg aagagtcttc
1081 cacaaaggga gatcagcttt agttcttcag taccttagag ttccacttgt tgaccgagcc
1141 acatgtcttc gatctacaaa gttcaccatc tataacaaca tgttctgtgc tggcttccat
1201 gaaggaggta gagattcatg tcaaggagat agtgggggac cccatgttac tgaagtggaa
1261 gggaccagtt tcttaactgg aattattagc tggggtgaag agtgtgcaat gaaaggcaaa
1321 tatggaatat ataccaaggt atcccggtat gtcaactgga ttaaggaaaa aacaaagctc
1381 acttaatgaa agatggattt ccaaggttaa ttcattggaa ttgaaaatta acagggcctc
1441 tcactaacta atcactttcc catcttttgt tagatttgaa tatatacatt ctatgatcat
1501 tgctttttct ctttacaggg gagaatttca tattttacct gagcaaattg attagaaaat
1561 ggaaccacta gaggaatata atgtgttagg aaattacagt catttctaag ggcccagccc
1621 ttgacaaaat tgtgaagtta aattctccac tctgtccatc agatactatg gttctccact
1681 atggcaacta actcactcaa ttttccctcc ttagcagcat tccatcttcc cgatcttctt
1741 tgcttctcca accaaaacat caatgtttat tagttctgta tacagtacag gatctttggt
1801 ctactctatc acaaggccag taccacactc atgaagaaag aacacaggag tagctgagag
1861 gctaaaactc atcaaaaaca ctactccttt tcctctaccc tattcctcaa tcttttacct
1921 tttccaaatc ccaatcccca aatcagtttt tctctttctt actccctctc tcccttttac
1981 cctccatggt cgttaaagga gagatgggga gcatcattct gttatacttc tgtacacagt
2041 tatacatgtc tatcaaaccc agacttgctt ccatagtgga gacttgcttt tcagaacata
2101 gggatgaagt aaggtgcctg aaaagtttgg gggaaaagtt tctttcagag agttaagtta
2161 ttttatatat ataatatata tataaaatat ataatataca atataaatat atagtgtgtg
2221 tgtgtatgcg tgtgtgtaga cacacacgca tacacacata taatggaagc aataagccat
2281 tctaagagct tgtatggtta tggaggtctg actaggcatg atttcacgaa ggcaagattg
2341 gcatatcatt gtaactaaaa aagctgacat tgacccagac atattgtact ctttctaaaa
2401 ataataataa taatgctaac agaaagaaga gaaccgttcg tttgcaatct acagctagta
2461 gagactttga ggaagaattc aacagtgtgt cttcagcagt gttcagagcc aagcaagaag
2521 ttgaagttgc ctagaccaga ggacataagt atcatgtctc ctttaactag cataccccga
2581 agtggagaag ggtgcagcag gctcaaaggc ataagtcatt ccaatcagcc aactaagttg
2641 tccttttctg gtttcgtgtt caccatggaa cattttgatt atagttaatc cttctatctt
2701 gaatcttcta gagagttgct gaccaactga cgtatgtttc cctttgtgaa ttaataaact
2761 ggtgttctgg ttcat
//