LOCUS HE654772 1161 bp mRNA linear HUM 17-MAY-2012 DEFINITION Homo sapiens mRNA for methylthioadenosine phosphorylase (MTAP gene), splice variant 1. ACCESSION HE654772 VERSION HE654772.1 KEYWORDS . 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 1161) AUTHORS Camacho-Vanegas O. JOURNAL Submitted (18-JAN-2012) to the INSDC. 1425 Madison Avenue. Room 14-26D, MSSM, 1425 Madison Avenue. Room 14-26D, 10029. NY., USA. REFERENCE 2 AUTHORS Camacho-Vanegas O., Camacho S.C., Till J., Miranda-Lorenzo I., Terzo E., Ramirez M.C., Schramm V., Cordovano G., Watts G., Mehta S., Kimonis V., Hoch B., Philibert K.D., Raabe C.A., Bishop D.F., Glucksman M.J., Martignetti J.A. TITLE Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts JOURNAL Am. J. Hum. Genet. 90(4), 614-627(2012). PUBMED 22464254 FEATURES Location/Qualifiers source 1..1161 /db_xref="H-InvDB:HIT000714877" /organism="Homo sapiens" /mol_type="mRNA" /cell_type="fibroblast" /db_xref="taxon:9606" CDS 110..1150 /transl_table=1 /gene="MTAP" /product="methylthioadenosine phosphorylase" /note="splice variant 1" /db_xref="GOA:Q13126" /db_xref="HGNC:HGNC:7413" /db_xref="InterPro:IPR000845" /db_xref="InterPro:IPR010044" /db_xref="InterPro:IPR018099" /db_xref="InterPro:IPR035994" /db_xref="PDB:1CB0" /db_xref="PDB:1CG6" /db_xref="PDB:1K27" /db_xref="PDB:1SD1" /db_xref="PDB:1SD2" /db_xref="PDB:3LN5" /db_xref="PDB:3OZC" /db_xref="PDB:3OZD" /db_xref="PDB:3OZE" /db_xref="PDB:5EUB" /db_xref="PDB:5TC5" /db_xref="PDB:5TC6" /db_xref="PDB:5TC7" /db_xref="PDB:5TC8" /db_xref="PDB:6DYZ" /db_xref="PDB:6DZ0" /db_xref="PDB:6DZ2" /db_xref="PDB:6DZ3" /db_xref="UniProtKB/Swiss-Prot:Q13126" /protein_id="CCF77345.1" /translation="MASGTTTTAVKIGIIGGTGLDDPEILEGRTEKYVDTPFGKPSDA LILGKIKNVDCVLLARHGRQHTIMPSKVNYQANIWALKEEGCTHVIVTTACGSLREEI QPGDIVIIDQFIDRTTMRPQSFYDGSHSCARGVCHIPMAEPFCPKTREVLIETAKKLG LRCHSKGTMVTIEGPRFSSRAESFMFRTWGADVINMTTVPEVVLAKEAGICYASIAMA TDYDCWKEHEEAVSVDRVLKTLKENANKAKSLLLTTIPQIGSTEWSETLHNLKMIKFQ MILSEGYHPFNIQESPFYRGLLDFPSVGHGRGKKCLSAPAIILRPPQPRGTVTTFKVS WSKDQTYICMKS" BASE COUNT 315 a 285 c 290 g 271 t ORIGIN 1 gcactgctca ctcccgcgca gtgaggttgg cacagccacc gctctgtggc tcgcttggtt 61 cccttagtcc cgagcgctcg cccactgcag attcctttcc cgtgcagaca tggcctctgg 121 caccaccacc accgccgtga agattggaat aattggtgga acaggcctgg atgatccaga 181 aattttagaa ggaagaactg aaaaatatgt ggatactcca tttggcaagc catctgatgc 241 cttaattttg gggaagataa aaaatgttga ttgcgtcctc cttgcaaggc atggaaggca 301 gcacaccatc atgccttcaa aggtcaacta ccaggcgaac atctgggctt tgaaggaaga 361 gggctgtaca catgtcatag tgaccacagc ttgtggctcc ttgagggagg agattcagcc 421 cggcgatatt gtcattattg atcagttcat tgacaggacc actatgagac ctcagtcctt 481 ctatgatgga agtcattctt gtgccagagg agtgtgccat attccaatgg ctgagccgtt 541 ttgccccaaa acgagagagg ttcttataga gactgctaag aagctaggac tccggtgcca 601 ctcaaagggg acaatggtca caatcgaggg acctcgtttt agctcccggg cagaaagctt 661 catgttccgc acctgggggg cggatgttat caacatgacc acagttccag aggtggttct 721 tgctaaggag gctggaattt gttacgcaag tatcgccatg gcgacagatt atgactgctg 781 gaaggagcac gaggaagcag tttcggtgga ccgggtctta aagaccctga aagaaaacgc 841 taataaagcc aaaagcttac tgctcactac catacctcag atagggtcca cagaatggtc 901 agaaaccctc cataacctga agatgatcaa gttccagatg atcctcagtg agggatacca 961 tcctttcaat attcaagagt cacccttcta cagaggactc ctagacttcc catcagtggg 1021 acatggcaga ggtaagaagt gcctttcagc tcccgccata attctgaggc ctccccagcc 1081 acgtggaact gtgacaactt tcaaagtgag ttggagcaaa gaccaaacat atatttgcat 1141 gaaatcatga catcctatag t //