LOCUS       AJ294850                1472 bp    mRNA    linear   HUM 07-OCT-2008
DEFINITION  Homo sapiens partial mRNA for KRIT1 (CCM1 gene).
ACCESSION   AJ294850
VERSION     AJ294850.1
KEYWORDS    CCM1 gene; cerebral capillary malformation gene 1; KRIT1.
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 1472)
  AUTHORS   Vikkula M.
  JOURNAL   Submitted (28-SEP-2000) to the INSDC. Vikkula M., Laboratory of
            Human Molecular Genetics, Christian de Duve Institute of Cellular
            Pathology, Avenue Hippocrate, 75, B-1200 Brussels, BELGIUM.
REFERENCE   2
  AUTHORS   Eerola I., McIntyre B., Vikkula M.
  TITLE     Identification of eight novel 5'-exons in cerebral capillary
            malformation gene-1 (CCM1) encoding KRIT1
  JOURNAL   Biochim. Biophys. Acta 1517(3), 464-467(2001).
   PUBMED   11342228
FEATURES             Location/Qualifiers
     source          1..1472
                     /db_xref="H-InvDB:HIT000246657"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     CDS             744..>1472
                     /gene="CCM1"
                     /product="KRIT1"
                     /db_xref="GOA:O00522"
                     /db_xref="H-InvDB:HIT000246657.12"
                     /db_xref="HGNC:HGNC:1573"
                     /db_xref="InterPro:IPR000299"
                     /db_xref="InterPro:IPR002110"
                     /db_xref="InterPro:IPR011993"
                     /db_xref="InterPro:IPR014352"
                     /db_xref="InterPro:IPR019748"
                     /db_xref="InterPro:IPR019749"
                     /db_xref="InterPro:IPR020683"
                     /db_xref="InterPro:IPR032022"
                     /db_xref="InterPro:IPR035963"
                     /db_xref="InterPro:IPR036770"
                     /db_xref="InterPro:IPR041791"
                     /db_xref="PDB:3U7D"
                     /db_xref="PDB:4DX8"
                     /db_xref="PDB:4DXA"
                     /db_xref="PDB:4HDO"
                     /db_xref="PDB:4HDQ"
                     /db_xref="PDB:4JIF"
                     /db_xref="PDB:4TKN"
                     /db_xref="PDB:5D68"
                     /db_xref="UniProtKB/Swiss-Prot:O00522"
                     /protein_id="CAC17608.1"
                     /translation="MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEG
                     QKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGE
                     KMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIAL
                     DKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSK
                     MLALEKADTCIYNPLFGSDLQYTNR"
BASE COUNT          441 a          324 c          315 g          392 t
ORIGIN      
        1 gtctcctagt cgcctgccac cagcccctga gagactgcag gtccagtgaa aaggagcagg
       61 aacggcagca gcccggccgc cgacccggaa gctctttcac cgccaaccgc gaggctgcaa
      121 agggtgtgaa cccggaagcg atttcatagc cacggtgact gtcccaccca tttagttgaa
      181 tgtagcggcc agagaggcac tcgcggcagc ccgtacgggt gggacctctc ggtgtccttc
      241 gggaaacagg aggagcaagt tcgactccag cgagggaaaa cggaggtggg agactgaacc
      301 atctccacat ctagttgccc caggtttttg gctttcatcg ctttttctac atgtttttag
      361 cctcaccaga agtctttcat ctcggtggtc caactcagga tctcagcctc attattttct
      421 tacccttctg gagtgcatat gtgcctttac agtttctgtt tgcaaacgct gtctagcata
      481 ctaagaggat gttagcaaac ctgttccatg gacactaaat ggcagttgta catctcccct
      541 catcagtcat agtgacaacc agaaatgccc tccatatttt ccagtgatcc cagtcttcaa
      601 tgcgtctgtc tcataatttg taaacgttta ttatcttgaa gtcattgtta atctgtggtg
      661 aaaagtaatt gctaaataga aattctgaga agaaaaaggc ctcatccttt tcacatgatg
      721 taggaaggtc tgttgcatga gcaatgggaa atccagaaaa catagaagat gcatatgttg
      781 ctgttattcg tccaaagaat actgccagtc tcaattctcg ggaatacaga gctaagtcat
      841 atgaaatttt gttgcatgaa gttcccattg aaggacagaa aaaaaagaga aagaaagttt
      901 tattggaaac gaaacttcaa ggcaacagtg aaataacaca aggcatattg gattacgtag
      961 tagaaaccac caaaccaatt tctcctgcaa accagggtat cagaggaaaa cgagttgtac
     1021 taatgaaaaa atttcctctg gatggagaga agatgggcag agaagcatca ttatttattg
     1081 ttccatcagt tgtcaaagat aatactaaat acacatatac cccaggatgc ccaatttttt
     1141 actgcttaca agatattatg cgagtctgta gtgaatccag tactcatttt gctacactta
     1201 cagcaaggat gttaatagcc ttggataagt ggttagatga acgtcatgca caatctcact
     1261 ttattccagc tttattccga ccttctcctc ttgagcggat aaaaactaat gtcataaatc
     1321 ctgcatatgc tactgaatca ggtcagacag aaaactcact acatatgggc tatagtgcac
     1381 tagaaataaa gagtaaaatg ttagccctag agaaagcaga tacctgtatt tacaaccctt
     1441 tgtttggatc agatcttcag tatacaaatc gg
//