LOCUS CAA04154.1 892 aa PRT HUM 13-MAR-1998 DEFINITION Homo sapiens spinocerebellar ataxia 7 protein. ACCESSION AJ000517-1 PROTEIN_ID CAA04154.1 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 3969) AUTHORS Brice A. JOURNAL Submitted (22-JUL-1997) to the INSDC. Brice A., Hopital de la Salpetriere, INSERM U289, 47 bd. de l Hopital, 75651 Paris Cedex 13, FRANCE. REFERENCE 2 AUTHORS David G., Abbas N., Stevanin G., Durr A., Yvert G., Cancel G., Weber C., Imbert G., Saudou F., Antoniou E., Drabkin H., Gemmill R., Giunti P., Benomar A., Wood N., Ruberg M., Agid Y., Mandel J.L., Brice A. TITLE Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion JOURNAL Nat Genet 17(1), 65-70(1997). PUBMED 9288099 REFERENCE 3 AUTHORS Del-Favero J., Krols L., Michalik A., Theuns J., Loefgren A., Goossens D., Wehnert A., Van den Bossche D., Zand K.V., Backhovens H., van Regenmorter N., MARTIN J.J., Van Broeckhoven C. TITLE Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion JOURNAL Hum. Mol. Genet. 7(2), 177-186(1998). PUBMED 9425224 FEATURES Qualifiers source /db_xref="H-InvDB:HIT000243812" /organism="Homo sapiens" /chromosome="3" /map="p12-p13" /lab_host="E.coli" /mol_type="mRNA" /sex="male" /clone_lib="lambda SCREEN-1" /tissue_lib="lymphoblastoid cell line" /db_xref="taxon:9606" protein /gene="SCA7" /db_xref="GOA:O15265" /db_xref="H-InvDB:HIT000243812.15" /db_xref="HGNC:HGNC:10560" /db_xref="InterPro:IPR013243" /db_xref="InterPro:IPR030706" /db_xref="PDB:2KKR" /db_xref="UniProtKB/Swiss-Prot:O15265" BEGIN 1 MSERAADDVR GEPRRAAAAA GGAAAAAARQ QQQQQQQQQP PPPQPQRQQH PPPPPRRTRP 61 EDGGPGAAST SAAAMATVGE RRPLPSPEVM LGQSWNLWVE ASKLPGKDGT ELDESFKEFG 121 KNREVMGLCR EDMPIFGFCP AHDDFYLVVC NDCNQVVKPQ AFQSHYERRH SSSSKPPLAV 181 PPTSVFSFFP SLSKSKGGSA SGSNRSSSGG VLSASSSSSK LLKSPKEKLQ LRGNTRPMHP 241 IQQSRVPHGR IMTPSVKVEK IHPKMDGTLL KSAVGPTCPA TVSSLVKPGL NCPSIPKPTL 301 PSPGQILNGK GLPAPPTLEK KPEDNSNNRK FLNKRLSERE FDPDIHCGVI DLDTKKPCTR 361 SLTCKTHSLT QRRAVQGRRK RFDVLLAEHK NKTREKELIR HPDSQQPPQP LRDPHPAPPR 421 TSQEPHQNPH GVIPSESKPF VASKPKPHTP SLPRPPGCPA QQGGSAPIDP PPVHESPHPP 481 LPATEPASRL SSEEGEGDDK EESVEKLDCH YSGHHPQPAS FCTFGSRQIG RGYYVFDSRW 541 NRLRCALNLM VEKHLNAQLW KKIPPVPSTT SPISTRIPHR TNSVPTSQCG VSYLAAATVS 601 TSPVLLSSTC ISPNSKSVPA HGTTLNAQPA ASGAMDPVCS MQSRQVSSSS SSPSTPSGLS 661 SVPSSPMSRK PQKLKSSKSL RPKESSGNST NCQNASSSTS GGSGKKRKNS SPLLVHSSSS 721 SSSSSSSSHS MESFRKNCVA HSGPPYPSTV TSSHSIGLNC VTNKANAVNV RHDQSGRGPP 781 TGSPAESIKR MSVMVNSSDS TLSLGPFIHQ SNELPVNSHG SFSHSHTPLD KLIGKKRKCS 841 PSSSSINNSS SKPTKVAKVP AVNNVHMKHT GTIPGAQGLM NSSLLHQPKA RP //