LOCUS       AJ303120                2207 bp    mRNA    linear   HUM 07-OCT-2008
DEFINITION  Homo sapiens mRNA for putative alpha mannosyltransferase (ALG12
            gene).
ACCESSION   AJ303120
VERSION     AJ303120.1
KEYWORDS    alpha mannosyltransferase.
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 2207)
  AUTHORS   Moore S.E.H.
  JOURNAL   Submitted (02-JAN-2001) to the INSDC. Moore S.E.H., INSERM Unit
            504, Inserm, Batiment INSERM, 16 avenue Paul-Vaillant Couturier,
            94807 Villejuif cedex, FRANCE.
REFERENCE   2
  AUTHORS   Chantret I., Dupre T., Delenda C., Bucher C., Dancourt J.,
            Barnier A., Charollais A., Heron D., Bader-Meunier B., Danos O.,
            Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H.
  TITLE     Congenital disorders of glycosylation type Ig is defined by a
            deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl
            mannosyltransferase
  JOURNAL   J Biol Chem 277(28), 25815-25822(2002).
   PUBMED   11983712
COMMENT     Related sequence AJ290427
FEATURES             Location/Qualifiers
     source          1..2207
                     /db_xref="H-InvDB:HIT000246885"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /cell_type="fibroblast"
                     /tissue_type="skin biopsy"
                     /db_xref="taxon:9606"
     CDS             148..1614
                     /gene="ALG12"
                     /product="putative alpha mannosyltransferase"
                     /function="essential for efficient protein
                     N-glycosylation"
                     /db_xref="GOA:Q9BV10"
                     /db_xref="H-InvDB:HIT000246885.13"
                     /db_xref="HGNC:HGNC:19358"
                     /db_xref="InterPro:IPR005599"
                     /db_xref="InterPro:IPR039485"
                     /db_xref="UniProtKB/Swiss-Prot:Q9BV10"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /protein_id="CAC67488.1"
                     /translation="MAGKGSSGRRPLLLGLLVAVATVHLVICPYTKVEESFNLQATHD
                     LLYHWQDLEQYDHLEFPGVVPRTFLGPVVIAVFSSPAVYVLSLLEMSKFYSQLIVRGV
                     LGLGVIFGLWTLQKEVRRHFGAMVATMFCWVTAMQFHLMFYCTRTLPNVLALPVVLLA
                     LAAWLRHEWARFIWLSAFAIIVFRVELCLFLGLLLLLALGNRKVSVVRALRHAVPAGI
                     LCLGLTVAVDSYFWRQLTWPEGKVLWYNTVLNKSSNWGTSPLLWYFYSALPRGLGCSL
                     LFIPLGLVDRRTHAPTVLALGFMALYSLLPHKELRFIIYAFPMLNITAARGCSYLLNN
                     YKKSWLYKAGSLLVIGHLVVNAAYSATALYVSHFNYPGGVAMQRLHQLVPPQTDVLLH
                     IDVAAAQTGVSRFLQVNSAWRYDKREDVQPGTGMLAYTHILMEAAPGLLALYRDTHRV
                     LASVVGTTGVSLNLTQLPPFNVHLQTKLVLLERLPRPS"
     variation       571
                     /phenotype="congenital disorder of glycosylation type I"
                     /replace="g"
                     /product="dolichyl-p-man: Man7GlcNAc2-PP-dolichyl
                     mannosyltransferase"
                     /experiment="experimental evidence, no additional details
                     recorded"
BASE COUNT          429 a          694 c          631 g          453 t
ORIGIN      
        1 ccgtcctgct tcctgccgag gctggcccag gcagccgcgc ttcgaaggac gccgccggga
       61 gctgcggagc atgcgtggag tggcagtgct aacggctggt gtctcgcact gttggcctgt
      121 gaaggtacgt gaagctgaaa gcctggaatg gctggaaagg ggtcatcagg caggcggccc
      181 ctgctgctgg ggctgctggt ggccgtagcc actgtccacc tggtcatctg tccctacacc
      241 aaagtggagg agagcttcaa cctgcaggcc acacatgacc tgctctacca ctggcaagac
      301 ctggagcagt acgaccatct tgagttcccc ggagtcgtcc ccaggacgtt cctcgggcca
      361 gtggtgatcg cagtgttctc cagccccgcg gtttacgtgc tttcgctgtt agaaatgtcc
      421 aagttttact ctcagctaat agttagagga gtgcttggac tcggcgtgat ttttggactc
      481 tggacgttac aaaaggaagt gagacggcac ttcggggcca tggtggccac catgttctgc
      541 tgggtgacgg ccatgcagtt ccacctgatg ttctactgca cgcggacact gcccaatgtg
      601 ctggccctgc ctgtagtcct gctggccctc gcggcctggc tgcggcacga gtgggcccgc
      661 ttcatctggc tgtcagcctt cgccatcatc gtgttcaggg tggagctgtg cctgttcctg
      721 ggcctcctgc tgctgctggc cttgggcaac cgaaaggttt ctgtagtcag agcccttcgc
      781 cacgccgtcc cggcagggat cctctgttta ggactgacgg ttgctgtgga ctcttatttt
      841 tggcggcagc tcacttggcc ggaaggaaag gtgctttggt acaacactgt cctgaacaaa
      901 agctccaact gggggacctc cccgctgctg tggtacttct actcagccct gccccgcggc
      961 ctgggctgca gcctgctctt catccccctg ggcttggtag acagaaggac gcacgcgccg
     1021 acggtgctgg cactgggctt catggcactc tactccctcc tgccacacaa ggagctacgc
     1081 ttcatcatct atgccttccc catgctcaac atcacggctg ccagaggctg ctcctacctg
     1141 ctgaataact ataaaaagtc ttggctgtac aaagcggggt ctctgcttgt gatcggacac
     1201 ctcgtggtga atgccgccta ctcagccacg gccctgtatg tgtcccattt caactaccca
     1261 ggtggcgtcg caatgcagag gctgcaccag ctggtgcccc cccagacaga cgtccttctg
     1321 cacattgacg tggcagccgc ccagacaggt gtgtctcggt ttctccaagt caacagcgcc
     1381 tggaggtacg acaagaggga ggatgtgcag ccggggacag gcatgctggc atacacacac
     1441 atcctcatgg aggcggcccc tgggctcctg gccctctaca gggacacaca ccgggtcctg
     1501 gccagcgtcg tggggaccac aggtgtgagt ctgaacctga cccaactgcc ccccttcaac
     1561 gtccacctgc agacaaagct ggtgcttctg gagaggctcc cccggccgtc ctgaggggga
     1621 ccaggcagcc ctcagcagcc acaggccttc caggagctgt tatcactacc agtttctggc
     1681 acaattccag cacaattatg acaattcaga gaagcaagtc aaaggactgg gcacctgcct
     1741 ctgacagaca ccagaccagg tccagggcct cctccacagc ctcagctggg gctctcagca
     1801 ccaaagaacg aggggcccag gtcttgttgg caccccggga gccactgccc agggtgatgg
     1861 tggccagctc agggcttcct gcgggtgact gtcgcccaga ccaggtgcca ttcatgacta
     1921 atcaggagca gcgggctcac ccaggcacct gtctgccagg aggccacgtg tgtcctgccc
     1981 acccaggggg agctgtattt tggcagcacc ccacgcttgc tgcccgaggg cctcttgggg
     2041 cacctaagac agcaccccct ctcaggggag accatggtgg ccccggccgc acccccccac
     2101 cctggtgcca ccactgcaac ttttgtattc acaggcatcc catctccatc acagataaaa
     2161 tcttaggaga taaacacatt caaaaaggaa tgagataaaa agaataa
//