LOCUS BC047083 2898 bp mRNA linear HUM 26-JUN-2007
DEFINITION Homo sapiens spastic paraplegia 20 (Troyer syndrome), mRNA (cDNA
clone MGC:48338 IMAGE:5313378), complete cds.
ACCESSION BC047083
VERSION BC047083.1
KEYWORDS MGC.
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 2898)
AUTHORS Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G.,
Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D.,
Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K.,
Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F.,
Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L.,
Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L.,
Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S.,
Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J.,
Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J.,
McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S.,
Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W.,
Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A.,
Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S.,
Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y.,
Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D.,
Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M.,
Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E.,
Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A.
CONSRTM Mammalian Gene Collection Program Team
TITLE Generation and initial analysis of more than 15,000 full-length
human and mouse cDNA sequences
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002)
PUBMED 12477932
REFERENCE 2 (bases 1 to 2898)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (19-FEB-2003) National Institutes of Health, Mammalian
Gene Collection (MGC), Bethesda, MD 20892-2590, USA
REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov
COMMENT Contact: MGC help desk
Email: cgapbs-r@mail.nih.gov
Tissue Procurement: Miklos Palkovits, M.D., Ph.D.
cDNA Library Preparation: Michael J. Brownstein (NHGRI) & Shiraki
Toshiyuki and Piero Carninci (RIKEN)
cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
DNA Sequencing by: Baylor College of Medicine Human Genome
Sequencing Center
Center code: BCM-HGSC
Web site: http://www.hgsc.bcm.tmc.edu/cdna/
Contact: amg@bcm.tmc.edu
Gunaratne, P.H., Garcia, A.M., Lu, X., Hulyk, S.W., Loulseged, H.,
Kowis, C.R., Sneed, A.J., Martin, R.G., Muzny, D.M., Nanavati,
A.N., Gibbs, R.A.
Clone distribution: MGC clone distribution information can be found
through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
Series: IRAK Plate: 91 Row: n Column: 6
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 40806197.
FEATURES Location/Qualifiers
source 1..2898
/db_xref="H-InvDB:HIT000053084"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:48338 IMAGE:5313378"
/tissue_type="Brain, hypothalamus"
/clone_lib="NIH_MGC_96"
/lab_host="DH10B"
/note="Vector: pBluescriptR"
gene 1..2898
/gene="SPG20"
/gene_synonym="SPARTIN"
/gene_synonym="TAHCCP1"
/db_xref="GeneID:23111"
/db_xref="HGNC:HGNC:18514"
/db_xref="MIM:607111"
CDS 95..2095
/gene="SPG20"
/gene_synonym="SPARTIN"
/gene_synonym="TAHCCP1"
/codon_start=1
/product="spastic paraplegia 20 (Troyer syndrome)"
/protein_id="AAH47083.1"
/db_xref="GeneID:23111"
/db_xref="HGNC:HGNC:18514"
/db_xref="MIM:607111"
/translation="MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKN
YYKQGIGHLLRGISISSKESEHTGTGWESARQMQQKMKETLQNVRTRLEILEKGLATS
LQNDLQEVPKLYPEFPPKDMCEKLPEPQSFSSAPQHAEVNGNTSTPSAGAVAAPASLS
LPSQSCPAEAPPAYTPQAAEGHYTVSYGTDSGEFSSVGEEFYRNHSQPPPLETLGLDA
DELILIPNGVQIFFVNPAGEVSAPSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLY
PLVPDRSPVLKCTAGAYMFPDTMLQAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLR
LQANWNRAEEENEFQIPGRTRPSSDQLKEASGTDVKQLDQGNKDVRHKGKRGKRAKDT
SSEEVNLSHIVPCEPVPEEKPKELHEWSEKVAHNILSGASWVSWGLVKGAEITGKAIQ
KGASKLRERIQPEEKPVEVSPAVTKGLYIAKQATGGAAKVSQFLVDGVCTVANCVGKE
LAPHVKKHGSKLVPESLKKDKDGKSPLDGAMVVAASSVQGFSTVWQGLECAAKCIVNN
VSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVTAYNINNIGIKAMVKKTATQTGHTL
LEDYQIVDNSQRENQEGAANVNVRGEKDEQTKEVKEAKKKDK"
BASE COUNT 961 a 505 c 657 g 775 t
ORIGIN
1 agtgtaaggg agtgggagct ggtccgtgcc gcggcggccg cgcagggagc tctcgaggca
61 acgccggggc gcccgaggtc tggaaggcgc agaaatggag caagagccac aaaatggaga
121 acctgctgaa attaagatca tcagagaagc atataagaag gcctttttat ttgttaacaa
181 aggtctgaat acagatgaat taggtcagaa ggaagaagca aagaactact ataagcaagg
241 aataggacac ctgctcagag ggatcagcat ttcatcaaaa gagtctgaac acacaggtac
301 tgggtgggaa tctgctagac agatgcaaca gaaaatgaaa gaaactctac agaatgtacg
361 caccaggctg gaaattctag agaagggtct tgccacttct ctgcagaatg atcttcagga
421 ggtgcccaag ttatatccag aatttccacc taaagacatg tgtgaaaaat taccagagcc
481 tcagtctttt agttcagctc ctcagcatgc tgaagtaaat ggaaacacct caactccaag
541 tgcaggggca gttgctgcac ctgcttctct gtctttacca tcacaaagtt gtccagcaga
601 agctcctcct gcttatactc ctcaagctgc tgaaggtcac tacactgtat cctatggaac
661 agattctggg gagttttcat cagttggaga ggagttttat aggaatcatt ctcagccacc
721 gcctcttgag accttagggc tggatgcaga tgaattgatt ttgataccaa atggagtaca
781 gatttttttt gtaaatcctg caggggaggt tagtgcacct tcgtatcctg ggtaccttcg
841 aattgtgagg tttttggata attctctcga tacggttcta aaccgtcctc ccgggtttct
901 tcaggtttgt gactggttat atcctctagt tcctgataga tctccggttc tgaaatgtac
961 tgcgggagcc tacatgtttc ctgatacaat gctacaagca gcaggatgct ttgtgggggt
1021 cgtcctgtcc tctgagttac cagaggatga tagagagctc tttgaggatc tgttaaggca
1081 aatgtctgac cttcggctcc aggccaactg gaacagagca gaagaagaaa atgaattcca
1141 aatccctgga agaactagac cctcctctga ccaactaaaa gaagcctctg gcactgatgt
1201 gaaacagttg gaccaaggca ataaggatgt acgtcataaa ggaaaacgtg gaaaaagggc
1261 taaagatact tcaagtgaag aagttaacct gagtcacatt gtaccatgtg agccagttcc
1321 agaagaaaag ccaaaagaat tacatgaatg gagtgaaaaa gtggctcaca acattttgtc
1381 aggtgcttcc tgggtgagtt ggggtttagt caaaggtgct gagattactg gtaaggcaat
1441 ccagaaaggt gcttctaaac tccgagagcg gattcaacca gaagaaaaac ccgtggaagt
1501 tagtccagct gtcaccaagg gactttatat agcgaagcaa gctacaggag gagcagcaaa
1561 agtcagtcag ttcctggttg atggagtttg cactgtagca aattgcgttg gaaaagaact
1621 agctccacat gtcaagaagc atggaagcaa acttgttcca gaatctctta aaaaagacaa
1681 agatgggaaa tctcctctgg atggtgctat ggttgtagca gcgagtagtg ttcaaggatt
1741 ttcaactgtc tggcaaggat tggaatgtgc agctaaatgc atcgttaaca atgtttcagc
1801 agaaactgta caaactgtca gatacaaata cggatataat gcaggagaag ctacccacca
1861 tgcggtggat tctgcggtca atgttggcgt aactgcctac aatattaaca acattggtat
1921 caaagcaatg gtgaagaaaa ctgcaacaca aacaggacac actctccttg aggactatca
1981 gatagttgat aattctcaga gggaaaatca agaaggagca gcaaatgtca acgtgagagg
2041 ggagaaggat gagcagacga aggaagtaaa ggaggcaaag aagaaagata aatgatgaag
2101 tgctgggaat cacttatacc aaagccttat gaaatggatg aaattttgtt aaataggcaa
2161 atgtggaatt cctcacagat taaccagtat tttttaaatg tattcattcc tacaaattaa
2221 ctttcataaa ttttatggca tgtcttctat ttaaaaggaa aagaataagt attcttgcat
2281 ctggccttag aaatgtgaag ttatattctc aagtttattt ttttccaagt gtagctaaaa
2341 tatttttgca ggtaaaataa agctgatagt acatgtgttg ttcaaacctt gttaaaccta
2401 atattgaact atttttatat ctgctgtctt tcagaaggca aataggaaac tatatatttg
2461 cttaaaaatt ggcatttagt aaccttaatt ctttttatag aaggaatgac ttaaagtatt
2521 gtcccctctt tttgcactaa ttgtggattt ttttagatgc ttctcaaaat tttcagtgtg
2581 taagctaaac aaaaactaaa actaagaatt ctcaaaaaga cttgttcaaa acagggaaag
2641 actgatgaaa agtaaaatgg actacttttg taacttacct gtttgttagg aaatggaatg
2701 gtttctttga tttaaaatga ataaaaatag attattacgt cttttgtatt gagactgtat
2761 tgttatgagc ctaggaaatt tgggaacatg attgtattgt attaaaattc gaagtgatta
2821 ttatcagctt aattggatta aaaaagtact tcaagaaatt aaaaaaaaaa aaaaaaaaaa
2881 aataaaaaaa aaaaaaaa
//