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. and 
            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="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"
     polyA_signal    4248..4253
     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
//