Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant 1, mRNA.
| RefSeq Version | NM_000345.3, 225690599 |
| Length | 3215 bp |
| Structure | linear |
| Update Date | 24-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant 1, mRNA. |
| Product | alpha-synuclein isoform NACP140 |
| Comment | Summary: Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Four alternatively spliced transcripts encoding two different isoforms have been identified for this gene. [provided by RefSeq]. Transcript Variant: This variant (1, also known as NACP140) is the longest transcript and encodes the longer isoform (NACP140). Variants 1, 2, and 3 all encode the same isoform. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_000336.1 |
| CDS | 264..686 | Exon (1) | 1..238 | Exon (2) | 1..238 | Exon (3) | 239..384 | Exon (4) | 385..426 | Exon (5) | 427..567 | Exon (6) | 568..653 | Exon (7) | 654..3215 |
| Translation | MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTK
EQVTNVGGAVVTGVTAVAQKTVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDP
DNEAYEMPSEEGYQDYEPEA
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| Position | Chain | Variation | Link |
| 351 | + | c, g | dbSNP:104893878 |
| 399 | + | a, g | dbSNP:104893875 |
| 420 | + | a, g | dbSNP:104893877 |
| complement(531) | - | g, c | dbSNP:75306550 |
| 671 | + | c, t | dbSNP:76642636 |
| complement(825) | - | c, a | dbSNP:10024743 |
| complement(859) | - | t, c | dbSNP:79726680 |
| 880 | + | c, t | dbSNP:34825021 |
| 889 | + | a, g | dbSNP:35716318 |
| 1062 | + | c, t | dbSNP:35733299 |
| complement(1187) | - | g, a | dbSNP:17016074 |
| complement(1260..1763) | - | , largedeletion | dbSNP:71789014 |
| 1279 | + | a, c | dbSNP:35101723 |
| complement(1488) | - | c, a | dbSNP:78991202 |
| complement(1490) | - | t, c | dbSNP:78957750 |
| 1508 | + | a, g | dbSNP:35343095 |
| complement(1579) | - | g, a | dbSNP:356165 |
| 1579 | + | c, t | dbSNP:78852587 |
| complement(1933) | - | t, a | dbSNP:77964369 |
| complement(1946) | - | , ga | dbSNP:5860180 |
| complement(1948) | - | , gaga | dbSNP:34094651 |
| complement(1951..1952) | - | , ga | dbSNP:71797336 |
| complement(1962..1963) | - | , ag | dbSNP:35270750 |
| complement(1962) | - | g, a | dbSNP:114730160 |
| complement(1973) | - | t, c | dbSNP:116141748 |
| complement(1976) | - | g, a | dbSNP:116212473 |
| complement(1977..1978) | - | , aaaaa | dbSNP:71689467 |
| complement(1978..1979) | - | , aaaaa | dbSNP:70959679 |
| complement(1978) | - | g, a | dbSNP:115763376 |
| complement(1979..1980) | - | g, a | dbSNP:1987877 |
| complement(1988..1989) | - | , aaaaa | dbSNP:72262107 |
| complement(1994..1995) | - | , aaaaa | dbSNP:33988309 |
| 2305 | + | , a | dbSNP:35290339 |
| complement(2363) | - | g, a | dbSNP:17016072 |
| complement(2791) | - | t, c | dbSNP:3857053 |
| complement(2794) | - | t, a | dbSNP:1045722 |
| complement(2916) | - | t, c | dbSNP:114545200 |
| complement(3058..3059) | - | , c | dbSNP:34094043 |
| Gene Symbol | SNCA |
| Gene Synonym | MGC110988; NACP; PARK1; PARK4; PD1 |
| Chromosome | 4 |
| Locus Map | 4q21 |
| All Transcripts | NM_000345 , NM_007308 , NM_001146054 , NM_001146055 |
| Title | alpha-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with parkinsonism: a cohort study . |
| Author | Mollenhauer,B., Locascio,J.J., Schulz-Schaeffer,W., Sixel-Doring,F., Trenkwalder,C. and Schlossmacher,M.G. |
| Journal | Lancet Neurol 10 (3), 230-240 (2011) |
| Title | Structural and thermodynamics characters of isolated α-syn12 peptide: long-time temperature replica-exchange molecular dynamics in aqueous solution . |
| Author | Cao,Z., Liu,L., Wu,P. and Wang,J. |
| Journal | Acta Biochim. Biophys. Sin. (Shanghai) 43 (3), 172-180 (2011) |
| Title | Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies . |
| Author | Nalls,M.A., Plagnol,V., Hernandez,D.G., Sharma,M., Sheerin,U.M., Saad,M., Simon-Sanchez,J., Schulte,C., Lesage,S., Sveinbjornsdottir,S., Stefansson,K., Martinez,M., Hardy,J., Heutink,P., Brice,A., Gasser,T., Singleton,A.B. and Wood,N.W. |
| Journal | Lancet 377 (9766), 641-649 (2011) |
| Title | alpha-Synuclein propagates from mouse brain to grafted dopaminergic neurons and seeds aggregation in cultured human cells . |
| Author | Hansen,C., Angot,E., Bergstrom,A.L., Steiner,J.A., Pieri,L., Paul,G., Outeiro,T.F., Melki,R., Kallunki,P., Fog,K., Li,J.Y. and Brundin,P. |
| Journal | J. Clin. Invest. 121 (2), 715-725 (2011) |
| Title | Induction of the unfolded protein response by alpha-synuclein in experimental models of Parkinson's disease . |
| Author | Bellucci,A., Navarria,L., Zaltieri,M., Falarti,E., Bodei,S., Sigala,S., Battistin,L., Spillantini,M., Missale,C. and Spano,P. |
| Journal | J. Neurochem. 116 (4), 588-605 (2011) |
| Title | Assignment of human alpha-synuclein (SNCA) and beta-synuclein (SNCB) genes to chromosomes 4q21 and 5q35 . |
| Author | Spillantini,M.G., Divane,A. and Goedert,M. |
| Journal | Genomics 27 (2), 379-381 (1995) |
| Title | The human NACP/alpha-synuclein gene: chromosome assignment to 4q21.3-q22 and TaqI RFLP analysis . |
| Author | Chen,X., de Silva,H.A., Pettenati,M.J., Rao,P.N., St George-Hyslop,P., Roses,A.D., Xia,Y., Horsburgh,K., Ueda,K. and Saitoh,T. |
| Journal | Genomics 26 (2), 425-427 (1995) |
| Title | The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease . |
| Author | Campion,D., Martin,C., Heilig,R., Charbonnier,F., Moreau,V., Flaman,J.M., Petit,J.L., Hannequin,D., Brice,A. and Frebourg,T. |
| Journal | Genomics 26 (2), 254-257 (1995) |
| Title | Tissue-dependent alternative splicing of mRNA for NACP, the precursor of non-A beta component of Alzheimer's disease amyloid . |
| Author | Ueda,K., Saitoh,T. and Mori,H. |
| Journal | Biochem. Biophys. Res. Commun. 205 (2), 1366-1372 (1994) |
| Title | Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease . |
| Author | Ueda,K., Fukushima,H., Masliah,E., Xia,Y., Iwai,A., Yoshimoto,M., Otero,D.A., Kondo,J., Ihara,Y. and Saitoh,T. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 90 (23), 11282-11286 (1993) |
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