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
//