LOCUS CAA55793.1 816 aa PRT HUM 07-OCT-2008 DEFINITION Homo sapiens ataxin-1 protein. ACCESSION X79204-1 PROTEIN_ID CAA55793.1 SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS Banfi S., Servadio A., Chung M.Y., Kwiatkowski T.J., McCall A.E., Duvick L.A., Shen Y., Roth E.J., Orr H.T., Zoghbi H.Y. TITLE Identification and characterization of the gene causing type 1 spinocerebellar ataxia JOURNAL Nat Genet 7(4), 513-520(1994). PUBMED 7951322 REFERENCE 2 (bases 1 to 10660) AUTHORS Banfi S. JOURNAL Submitted (11-MAY-1994) to the INSDC. S. Banfi, Baylor College of Medicine, Dept of Pediatrics, One Baylor Plaza, Houston TX 77030, USA FEATURES Qualifiers source /db_xref="H-InvDB:HIT000323731" /organism="Homo sapiens" /chromosome="6" /map="6p22" /mol_type="mRNA" /dev_stage="adult, fetal" /tissue_type="cerebellum, brain" /db_xref="taxon:9606" protein /gene="SCA1" /db_xref="GOA:P54253" /db_xref="H-InvDB:HIT000323731.15" /db_xref="HGNC:HGNC:10548" /db_xref="InterPro:IPR003652" /db_xref="InterPro:IPR020997" /db_xref="InterPro:IPR036096" /db_xref="InterPro:IPR040172" /db_xref="PDB:1OA8" /db_xref="PDB:2M41" /db_xref="PDB:4APT" /db_xref="PDB:4AQP" /db_xref="PDB:4J2J" /db_xref="PDB:4J2L" /db_xref="UniProtKB/Swiss-Prot:P54253" BEGIN 1 MKSNQERSNE CLPPKKREIP ATSRSSEEKA PTLPSDNHRV EGTAWLPGNP GGRGHGGGRH 61 GPAGTSVELG LQQGIGLHKA LSTGLDYSPP SAPRSVPVAT TLPAAYATPQ PGTPVSPVQY 121 AHLPHTFQFI GSSQYSGTYA SFIPSQLIPP TANPVTSAVA SAAGATTPSQ RSQLEAYSTL 181 LANMGSLSQT PGHKAEQQQQ QQQQQQQQHQ HQQQQQQQQQ QQQQQQHLSR APGLITPGSP 241 PPAQQNQYVH ISSSPQNTGR TASPPAIPVH LHPHQTMIPH TLTLGPPSQV VMQYADSGSH 301 FVPREATKKA ESSRLQQAIQ AKEVLNGEME KSRRYGAPSS ADLGLGKAGG KSVPHPYESR 361 HVVVHPSPSD YSSRDPSGVR ASVMVLPNSN TPAADLEVQQ ATHREASPST LNDKSGLHLG 421 KPGHRSYALS PHTVIQTTHS ASEPLPVGLP ATAFYAGTQP PVIGYLSGQQ QAITYAGSLP 481 QHLVIPGTQP LLIPVGSTDM EASGAAPAIV TSSPQFAAVP HTFVTTALPK SENFNPEALV 541 TQAAYPAMVQ AQIHLPVVQS VASPAAAPPT LPPYFMKGSI IQLANGELKK VEDLKTEDFI 601 QSAEISNDLK IDSSTVERIE DSHSPGVAVI QFAVGEHRAQ VSVEVLVEYP FFVFGQGWSS 661 CCPERTSQLF DLPCSKLSVG DVCISLTLKN LKNGSVKKGQ PVDPASVLLK HSKADGLAGS 721 RHRYAEQENG INQGSAQMLS ENGELKFPEK MGLPAAPFLT KIEPSKPAAT RKRRWSAPES 781 RKLEKSEDEP PLTLPKPSLI PQEVKICIEG RSNVGK //