LOCUS X04011 4267 bp mRNA linear HUM 07-OCT-2008
DEFINITION Human mRNA of X-CGD gene involved in chronic granulomatous disease
located on chromosome X.
ACCESSION X04011
VERSION X04011.1
KEYWORDS chronic granulomatous disease-associated gene; glycoprotein.
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 4267)
AUTHORS Royer-Pokora B., Kunkel L.M., Monaco A.P., Goff S.C.,
Newburger P.E., Baehner R.L., Cole F.S., Curnutte J.T., Orkin S.H.
TITLE Cloning the gene for an inherited human disorder--chronic
granulomatous disease--on the basis of its chromosomal location
JOURNAL Nature 322(6074), 32-38(1986).
PUBMED 2425263
COMMENT Data kindly reviewed (23-FEB-1987) by Orkin S.H.
FEATURES Location/Qualifiers
source 1..4267
/db_xref="H-InvDB:HIT000321007"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 208..1728
/note="precursor polypeptide"
/db_xref="GOA:P04839"
/db_xref="H-InvDB:HIT000321007.14"
/db_xref="HGNC:HGNC:2578"
/db_xref="InterPro:IPR000778"
/db_xref="InterPro:IPR013112"
/db_xref="InterPro:IPR013121"
/db_xref="InterPro:IPR013130"
/db_xref="InterPro:IPR017927"
/db_xref="InterPro:IPR017938"
/db_xref="InterPro:IPR039261"
/db_xref="PDB:3A1F"
/db_xref="UniProtKB/Swiss-Prot:P04839"
/protein_id="CAA27635.1"
/translation="MLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMI
ALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGG
LYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGA
ERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLC
ERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPF
TLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDV
FSYEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFAD
LLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVITGLKQKTLYGRP
NWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF"
sig_peptide 208..257
misc_feature 409..411
/note="glycosylation site"
/note="putative"
misc_feature 460..462
/note="glycosylation site"
/note="putative"
misc_feature 733..735
/note="putative"
/note="glycosylation site"
misc_feature 1303..1305
/note="putative"
/note="glycosylation site"
regulatory 4248..4253
/regulatory_class="polyA_signal_sequence"
polyA_site 4267
BASE COUNT 1242 a 838 c 913 g 1274 t
ORIGIN
1 cttcctctgc caccatcggg gaactgggct gtgaatgagg ggctctccat ttttgctatt
61 ctggtttggc tggggttgaa cgtcttcctc tttgtctggt attaccgggt ttatgatatt
121 ccacctaagt tcttttacac aagaaaactt cttgggtcag cactggcact ggccagggcc
181 cctgcagcct gcctgaattt caactgcatg ctgattctct tgccagtctg tcgaaatctg
241 ctgtccttcc tcaggggttc cagtgcgtgc tgctcaacaa gagttcgaag acaactggac
301 aggaatctca cctttcataa aatggtggca tggatgattg cacttcactc tgcgattcac
361 accattgcac atctatttaa tgtggaatgg tgtgtgaatg cccgagtcaa taattctgat
421 ccttattcag tagcactctc tgaacttgga gacaggcaaa atgaaagtta tctcaatttt
481 gctcgaaaga gaataaagaa ccctgaagga ggcctgtacc tggctgtgac cctgttggca
541 ggcatcactg gagttgtcat cacgctgtgc ctcatattaa ttatcacttc ctccaccaaa
601 accatccgga ggtcttactt tgaagtcttt tggtacacac atcatctctt tgtgatcttc
661 ttcattggcc ttgccatcca tggagctgaa cgaattgtac gtgggcagac cgcagagagt
721 ttggctgtgc ataatataac agtttgtgaa caaaaaatct cagaatgggg aaaaataaag
781 gaatgcccaa tccctcagtt tgctggaaac cctcctatga cttggaaatg gatagtgggt
841 cccatgtttc tgtatctctg tgagaggttg gtgcggtttt ggcgatctca acagaaggtg
901 gtcatcacca aggtggtcac tcaccctttc aaaaccatcg agctacagat gaagaagaag
961 gggttcaaaa tggaagtggg acaatacatt tttgtcaagt gcccaaaggt gtccaagctg
1021 gagtggcacc cttttacact gacatccgcc cctgaggaag acttctttag tatccatatc
1081 cgcatcgttg gggactggac agaggggctg ttcaatgctt gtggctgtga taagcaggag
1141 tttcaagatg cgtggaaact acctaagata gcggttgatg ggccctttgg cactgccagt
1201 gaagatgtgt tcagctatga ggtggtgatg ttagtgggag cagggattgg ggtcacaccc
1261 ttcgcatcca ttctcaagtc agtctggtac aaatattgca ataacgccac caatctgaag
1321 ctcaaaaaga tctacttcta ctggctgtgc cgggacacac atgcctttga gtggtttgca
1381 gatctgctgc aactgctgga gagccagatg caggaaagga acaatgccgg cttcctcagc
1441 tacaacatct acctcactgg ctgggatgag tctcaggcca atcactttgc tgtgcaccat
1501 gatgaggaga aagatgtgat cacaggcctg aaacaaaaga ctttgtatgg acggcccaac
1561 tgggataatg aattcaagac aattgcaagt caacacccta ataccagaat aggagttttc
1621 ctctgtggac ctgaagcctt ggctgaaacc ctgagtaaac aaagcatctc caactctgag
1681 tctggccctc ggggagtgca tttcattttc aacaaggaaa acttctaact tgtctcttcc
1741 atgaggaaat aaatgtgggt tgtgctgcca aatgctcaaa taatgctaat tgataatata
1801 aataccccct gcttaaaaat ggacaaaaag aaactataat gtaatggttt tcccttaaag
1861 gaatgtcaaa gattgtttga tagtgataag ttacatttat gtggagctct atggttttga
1921 gagcactttt acaaacatta tttcattttt ttcctctcag taatgtcagt ggaagttagg
1981 gaaaagattc ttggactcaa ttttagaatc aaaagggaaa ggatcaaaag gttcagtaac
2041 ttccctaaga ttatgaaact gtgaccagat ctagcccatc ttactccagg tttgatactc
2101 tttccacaat actgagctgc ctcagaatcc tcaaaatcag tttttatatt ccccaaaaga
2161 agaaggaaac caaggagtag ctatatattt ctactttgtg tcatttttgc catcattatt
2221 atcatactga aggaaatttt ccagatcatt aggacataat acatgttgag agtgtctcaa
2281 cacttattag tgacagtatt gacatctgag catactccag tttactaata cagcagggta
2341 actgggccag atgttctttc tacagaagaa tattggattg attggagtta atgtaatact
2401 catcatttac cactgtgctt ggcagagagc ggatactcaa gtaagttttg ttaaatgaat
2461 gaatgaattt agaaccacac aatgccaaga tagaattaat ttaaagcctt aaacaaaatt
2521 tatctaaaga aataacttct attactgtca tagaccaaag gaatctgatt ctccctaggg
2581 tcaagaacag gctaaggata ctaaccaata ggattgcctg aagggttctg cacattctta
2641 tttgaagcat gaaaaaagag ggttggaggt ggagaattaa cctcctgcca tgactctggc
2701 tcatctagtc ctgctccttg tgctataaaa taaatgcaga ctaatttcct gcccaaagtg
2761 gtcttctcca gctagccctt atgaatattg aacttaggaa ttgtgacaaa tatgtatctg
2821 atatggtcat ttgttttaaa taacacccac cccttatttt ccgtaaatac acacacaaaa
2881 tggatcgcat ctgtgtgact aatggtttat ttgtattata tcatcatcat catcctaaaa
2941 ttaacaaccc agaaacaaaa atctctatac agagatcaaa ttcacactca atagtatgtt
3001 ctgaatatat gttcaagaga gagtctctaa atcactgtta gtgtggccaa gagcagggtt
3061 ttctttttgt tcttagaact gctcccattt ctgggaacta aaaccagttt tatttgcccc
3121 accccttgga gccacaaatg tttagaactc ttcaacttcg gtaatgagga agaaggagaa
3181 agagctgggg gaagggcaga agactggttt aggaggaaaa ggaaataagg agaaaagaga
3241 atgggagagt gagagaaaat aaaaaaggca aaagggagag agaggggaag ggggtctcat
3301 attggtcatt ccctgcccca gatttcttaa agtttgatat gtatagaata taattgaagg
3361 aggtatacac atactgatgt tgttttgatt atctatggta ttgaatcttt taaaatctgg
3421 tcacaaattt tgatgctgag ggggattatt caagggacta ggatgaacta aataagaact
3481 cagttgttct ttgtcatact actattcctt tcgtctccca gaatcctcag ggcactgagg
3541 gtaggtctga caaataaggc ctgctgtgcg aatatagcct ttctgaaatg taccaggatg
3601 gtttctgctt agagacactt aggtccagcc tgttcacact gcacctcagg tatcaattca
3661 tctattcaac agatatttat tgtgttatta ctatgagtca ggctctgttt attgtttcaa
3721 ttctttacac caaagtatga actggagagg gtacctcagt tataaggagt ctgagaatat
3781 tggccctttc taacctatgt gcataattaa aaccagcttc atttgttgct ccgagagtgt
3841 ttctccaagg ttttctatct tcaaaaccaa ctaagttatg aaagtagaga gatctgccct
3901 gtgttatcca gttatgagat aaaaaatgaa tataagagtg cttgtcatta taaaagtttc
3961 ctttttatct ctcaagccac cagctgccag ccaccacgag ccagctgcca gcctagcttt
4021 tttttttttt ttttttttag cacttagtat ttagcattta ttaacaggta ctctaagaat
4081 gatgaagcat tgtttttaat cttaagacta tgaaggtttt tcttagttct tctgcttttg
4141 caattgtgtt tgtgaaattt gaatacttgc aggctttgta tgtgaataat tctagcgggg
4201 gacctgggag ataattctac ggggaattct taaaactgtg ctcaactatt aaaatgaatg
4261 agctttc
//