Homo sapiens matrin 3 (MATR3), transcript variant 1, mRNA.
| RefSeq Version | NM_199189.2, 303227922 |
| Length | 5604 bp |
| Structure | linear |
| Update Date | 26-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens matrin 3 (MATR3), transcript variant 1, mRNA. |
| Product | matrin-3 isoform a |
| Comment | Summary: This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and chrX. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1-4 encode the same isoform (a). 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_954659.1 |
| CDS | 779..3322 | Exon (1) | 1..410 | Exon (2) | 1..410 | Exon (3) | 411..440 | Exon (4) | 441..522 | Exon (5) | 523..601 | Exon (6) | 602..1690 | Exon (7) | 1691..1752 | Exon (8) | 1753..1794 | Exon (9) | 1795..1907 | Exon (10) | 1908..1960 | Exon (11) | 1961..2086 | Exon (12) | 2087..2212 | Exon (13) | 2213..2380 | Exon (14) | 2381..2512 | Exon (15) | 2513..2556 | Exon (16) | 2557..2926 | Exon (17) | 2927..3149 | Exon (18) | 3150..3271 | Exon (19) | 3272..5604 |
| Translation | MSKSFQQSSLSRDSQGHGRDLSAAGIGLLAAATQSLSMPASLGRMNQGTARLASLMNLGM
SSSLNQQGAHSALSSASTSSHNLQSIFNIGSRGPLPLSSQHRGDADQASNILASFGLSAR
DLDELSRYPEDKITPENLPQILLQLKRRRTEEGPTLSYGRDGRSATREPPYRVPRDDWEE
KRHFRRDSFDDRGPSLNPVLDYDHGSRSQESGYYDRMDYEDDRLRDGERCRDDSFFGETS
HNYHKFDSEYERMGRGPGPLQERSLFEKKRGAPPSSNIEDFHGLLPKGYPHLCSICDLPV
HSNKEWSQHINGASHSRRCQLLLEIYPEWNPDNDTGHTMGDPFMLQQSTNPAPGILGPPP
PSFHLGGPAVGPRGNLGAGNGNLQGPRHMQKGRVETSRVVHIMDFQRGKNLRYQLLQLVE
PFGVISNHLILNKINEAFIEMATTEDAQAAVDYYTTTPALVFGKPVRVHLSQKYKRIKKP
EGKPDQKFDQKQELGRVIHLSNLPHSGYSDSAVLKLAEPYGKIKNYILMRMKSQAFIEME
TREDAMAMVDHCLKKALWFQGRCVKVDLSEKYKKLVLRIPNRGIDLLKKDKSRKRSYSPD
GKESPSDKKSKTDGSQKTESSTEGKEQEEKSGEDGEKDTKDDQTEQEPNMLLESEDELLV
DEEEAAALLESGSSVGDETDLANLGDVASDGKKEPSDKAVKKDGSASAAAKKKLKKVDKI
EELDQENEAALENGIKNEENTEPGAESSENADDPNKDTSENADGQSDENKDDYTIPDEYR
IGPYQPNVPVGIDYVIPKTGFYCKLCSLFYTNEEVAKNTHCSSLPHYQKLKKFLNKLAEE
RRQKKET
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Gene Symbol | MATR3 |
| Gene Synonym | DKFZp686K0542; DKFZp686K23100; KIAA0723; MGC9105; MPD2; VCPDM |
| Chromosome | 5 |
| Locus Map | 5q31.2 |
| All Transcripts | NM_199189 , NM_018834 , NM_001194954 , NM_001194955 , NM_001194956 |
| Title | Matrin 3: chromosomal distribution and protein interactions . |
| Author | Zeitz,M.J., Malyavantham,K.S., Seifert,B. and Berezney,R. |
| Journal | J. Cell. Biochem. 108 (1), 125-133 (2009) |
| Title | Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3 . |
| Author | Senderek,J., Garvey,S.M., Krieger,M., Guergueltcheva,V., Urtizberea,A., Roos,A., Elbracht,M., Stendel,C., Tournev,I., Mihailova,V., Feit,H., Tramonte,J., Hedera,P., Crooks,K., Bergmann,C., Rudnik-Schoneborn,S., Zerres,K., Lochmuller,H., Seboun,E., Weis,J., Beckmann,J.S., Hauser,M.A. and Jackson,C.E. |
| Journal | Am. J. Hum. Genet. 84 (4), 511-518 (2009) |
| Title | Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis . |
| Author | Graubert,T.A., Payton,M.A., Shao,J., Walgren,R.A., Monahan,R.S., Frater,J.L., Walshauser,M.A., Martin,M.G., Kasai,Y. and Walter,M.J. |
| Journal | PLoS ONE 4 (2), E4583 (2009) |
| Title | Identifying functional neighborhoods within the cell nucleus: proximity analysis of early S-phase replicating chromatin domains to sites of transcription, RNA polymerase II, HP1gamma, matrin 3 and SAF-A . |
| Author | Malyavantham,K.S., Bhattacharya,S., Barbeitos,M., Mukherjee,L., Xu,J., Fackelmayer,F.O. and Berezney,R. |
| Journal | J. Cell. Biochem. 105 (2), 391-403 (2008) |
| Title | Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning . |
| Author | Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X., Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H., Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J., Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M., Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 97 (17), 9543-9548 (2000) |
| Title | Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31 . |
| Author | Feit,H., Silbergleit,A., Schneider,L.B., Gutierrez,J.A., Fitoussi,R.P., Reyes,C., Rouleau,G.A., Brais,B., Jackson,C.E., Beckmann,J.S. and Seboun,E. |
| Journal | Am. J. Hum. Genet. 63 (6), 1732-1742 (1998) |
| Title | Mapping of human DNA-binding nuclear protein (NP220) to chromosome band 2p13.1-p13.2 and its relation to matrin 3 . |
| Author | Okumara,K., Nogami,M., Matsushima,Y., Matsumura,K., Nakamura,K., Taguchi,H. and Kitagawa,Y. |
| Journal | Biosci. Biotechnol. Biochem. 62 (8), 1640-1642 (1998) |
| Title | Human U19 intron-encoded snoRNA is processed from a long primary transcript that possesses little potential for protein coding . |
| Author | Bortolin,M.L. and Kiss,T. |
| Journal | RNA 4 (4), 445-454 (1998) |
| Title | Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain . |
| Author | Belgrader,P., Dey,R. and Berezney,R. |
| Journal | J. Biol. Chem. 266 (15), 9893-9899 (1991) |
| Title | The nuclear matrix from cells of different origin. Evidence for a common set of matrix proteins . |
| Author | Stuurman,N., Meijne,A.M., van der Pol,A.J., de Jong,L., van Driel,R. and van Renswoude,J. |
| Journal | J. Biol. Chem. 265 (10), 5460-5465 (1990) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |