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 //