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 //