LOCUS       NM_018834               5069 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.
ACCESSION   NM_018834
VERSION     NM_018834.6
KEYWORDS    RefSeq; MANE Select.
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 5069)
  AUTHORS   Sprunger,M.L. and Jackrel,M.E.
  TITLE     The role of Matrin-3 in physiology and its dysregulation in disease
  JOURNAL   Biochem Soc Trans 52 (3), 961-972 (2024)
   PUBMED   38813817
  REMARK    GeneRIF: The role of Matrin-3 in physiology and its dysregulation
            in disease.
            Review article
REFERENCE   2  (bases 1 to 5069)
  AUTHORS   Liu,T., Zhu,Q., Kai,Y., Bingham,T., Wang,S., Cha,H.J., Mehta,S.,
            Schlaeger,T.M., Yuan,G.C. and Orkin,S.H.
  TITLE     Matrin3 mediates differentiation through stabilizing chromatin
            loop-domain interactions and YY1 mediated enhancer-promoter
            interactions
  JOURNAL   Nat Commun 15 (1), 1274 (2024)
   PUBMED   38341433
  REMARK    GeneRIF: Matrin3 mediates differentiation through stabilizing
            chromatin loop-domain interactions and YY1 mediated
            enhancer-promoter interactions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5069)
  AUTHORS   Salton,M., Elkon,R., Borodina,T., Davydov,A., Yaspo,M.L.,
            Halperin,E. and Shiloh,Y.
  TITLE     Matrin 3 binds and stabilizes mRNA
  JOURNAL   PLoS One 6 (8), e23882 (2011)
   PUBMED   21858232
  REMARK    GeneRIF: Data suggest that the cellular level of MATR3, known to be
            highly regulated, modulates the stability of a group of gene
            transcripts.
REFERENCE   4  (bases 1 to 5069)
  AUTHORS   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.
  TITLE     Autosomal-dominant distal myopathy associated with a recurrent
            missense mutation in the gene encoding the nuclear matrix protein,
            matrin 3
  JOURNAL   Am J Hum Genet 84 (4), 511-518 (2009)
   PUBMED   19344878
  REMARK    GeneRIF: nonconservative S85C missense mutation in vocal cord and
            pharyngeal weakness with distal myopathy
REFERENCE   5  (bases 1 to 5069)
  AUTHORS   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.
  TITLE     Vocal cord and pharyngeal weakness with autosomal dominant distal
            myopathy: clinical description and gene localization to 5q31
  JOURNAL   Am J Hum Genet 63 (6), 1732-1742 (1998)
   PUBMED   9837826
REFERENCE   6  (bases 1 to 5069)
  AUTHORS   Okumara,K., Nogami,M., Matsushima,Y., Matsumura,K., Nakamura,K.,
            Taguchi,H. and Kitagawa,Y.
  TITLE     Mapping of human DNA-binding nuclear protein (NP220) to chromosome
            band 2p13.1-p13.2 and its relation to matrin 3
  JOURNAL   Biosci Biotechnol Biochem 62 (8), 1640-1642 (1998)
   PUBMED   9757574
REFERENCE   7  (bases 1 to 5069)
  AUTHORS   Bortolin,M.L. and Kiss,T.
  TITLE     Human U19 intron-encoded snoRNA is processed from a long primary
            transcript that possesses little potential for protein coding
  JOURNAL   RNA 4 (4), 445-454 (1998)
   PUBMED   9630250
REFERENCE   8  (bases 1 to 5069)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   9  (bases 1 to 5069)
  AUTHORS   Belgrader,P., Dey,R. and Berezney,R.
  TITLE     Molecular cloning of matrin 3. A 125-kilodalton protein of the
            nuclear matrix contains an extensive acidic domain
  JOURNAL   J Biol Chem 266 (15), 9893-9899 (1991)
   PUBMED   2033075
REFERENCE   10 (bases 1 to 5069)
  AUTHORS   Stuurman,N., Meijne,A.M., van der Pol,A.J., de Jong,L., van
            Driel,R. and van Renswoude,J.
  TITLE     The nuclear matrix from cells of different origin. Evidence for a
            common set of matrix proteins
  JOURNAL   J Biol Chem 265 (10), 5460-5465 (1990)
   PUBMED   2180926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011404.6, BX537365.1,
            AY007157.1 and AA233906.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_018834.5.
            
            Summary: This gene encodes a nuclear matrix protein, which is
            proposed to stabilize certain messenger RNA species. Mutations of
            this gene are associated with distal myopathy 2, which often
            includes vocal cord and pharyngeal weakness. Alternatively spliced
            transcript variants, including read-through transcripts composed of
            the upstream small nucleolar RNA host gene 4 (non-protein coding)
            and matrin 3 gene sequence, have been identified. Pseudogenes of
            this gene are located on chromosomes 1 and X. [provided by RefSeq,
            Aug 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. 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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.129358.1,
                                           SRR1660807.249321.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394805.8/ ENSP00000378284.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                AC011404.6         47840-47905
            67-393              AC011404.6         61339-61665
            394-2010            BX537365.1         393-2009
            2011-2398           BX537365.1         2011-2398
            2399-2963           AY007157.1         847-1411
            2964-3786           BX537365.1         2964-3786
            3787-4144           AC011404.6         84495-84852
            4145-4751           BX537365.1         4144-4750
            4752-4993           AA233906.1         77-318              c
            4994-4994           AC011404.6         85702-85702
            4995-5069           AA233906.1         1-75                c
FEATURES             Location/Qualifiers
     source          1..5069
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..5069
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /note="matrin 3"
                     /db_xref="GeneID:9782"
                     /db_xref="HGNC:HGNC:6912"
                     /db_xref="MIM:164015"
     exon            1..66
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            67..1155
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     CDS             244..2787
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /note="isoform a is encoded by transcript variant 2; vocal
                     cord and pharyngeal weakness with distal myopathy"
                     /codon_start=1
                     /product="matrin-3 isoform a"
                     /protein_id="NP_061322.2"
                     /db_xref="GeneID:9782"
                     /db_xref="HGNC:HGNC:6912"
                     /db_xref="MIM:164015"
                     /translation="MSKSFQQSSLSRDSQGHGRDLSAAGIGLLAAATQSLSMPASLGR
                     MNQGTARLASLMNLGMSSSLNQQGAHSALSSASTSSHNLQSIFNIGSRGPLPLSSQHR
                     GDADQASNILASFGLSARDLDELSRYPEDKITPENLPQILLQLKRRRTEEGPTLSYGR
                     DGRSATREPPYRVPRDDWEEKRHFRRDSFDDRGPSLNPVLDYDHGSRSQESGYYDRMD
                     YEDDRLRDGERCRDDSFFGETSHNYHKFDSEYERMGRGPGPLQERSLFEKKRGAPPSS
                     NIEDFHGLLPKGYPHLCSICDLPVHSNKEWSQHINGASHSRRCQLLLEIYPEWNPDND
                     TGHTMGDPFMLQQSTNPAPGILGPPPPSFHLGGPAVGPRGNLGAGNGNLQGPRHMQKG
                     RVETSRVVHIMDFQRGKNLRYQLLQLVEPFGVISNHLILNKINEAFIEMATTEDAQAA
                     VDYYTTTPALVFGKPVRVHLSQKYKRIKKPEGKPDQKFDQKQELGRVIHLSNLPHSGY
                     SDSAVLKLAEPYGKIKNYILMRMKSQAFIEMETREDAMAMVDHCLKKALWFQGRCVKV
                     DLSEKYKKLVLRIPNRGIDLLKKDKSRKRSYSPDGKESPSDKKSKTDGSQKTESSTEG
                     KEQEEKSGEDGEKDTKDDQTEQEPNMLLESEDELLVDEEEAAALLESGSSVGDETDLA
                     NLGDVASDGKKEPSDKAVKKDGSASAAAKKKLKKVDKIEELDQENEAALENGIKNEEN
                     TEPGAESSENADDPNKDTSENADGQSDENKDDYTIPDEYRIGPYQPNVPVGIDYVIPK
                     TGFYCKLCSLFYTNEEVAKNTHCSSLPHYQKLKKFLNKLAEERRQKKET"
     exon            1156..1217
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1259
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1372
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1425
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1551
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1552..1677
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1678..1845
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..1977
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1978..2021
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2022..2391
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2392..2614
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2615..2736
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2737..5069
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3781..3786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /note="hexamer: AAGAAA"
     polyA_site      3803
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /note="major polyA site"
     polyA_site      3833
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /note="major polyA site"
     regulatory      4734..4739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /note="hexamer: CATAAA"
     polyA_site      4754
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
     regulatory      5045..5050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
                     /note="hexamer: AATGAA"
     polyA_site      5069
                     /gene="MATR3"
                     /gene_synonym="ALS21; MPD2; VCPDM"
ORIGIN      
        1 gggagtctcc gcgtcccgct cgctgggaga gaggtacctc tccttttccc tctccctttc
       61 cctaagagtt gtctgctggt tctcagcttg aagaagattc tgcagtcctt attgatcctt
      121 tttcttggcg ttaccatttt tgaagcaaag ttaacctagc tttctagttt gagctttctt
      181 tttggccgtc tttaaaaaaa tttttttttt taatctataa aatagacaag agctagttct
      241 acaatgtcca agtcattcca gcagtcatct ctcagtaggg actcacaggg tcatgggcgt
      301 gacctgtctg cggcaggaat aggccttctt gctgctgcta cccagtcttt aagtatgcca
      361 gcatctcttg gaaggatgaa ccagggtact gcacgccttg ctagtttaat gaatcttgga
      421 atgagttctt cattgaatca acaaggagct catagtgcac tgtcttctgc tagtacttct
      481 tcccataatt tgcagtctat atttaacatt ggaagtagag gtccactccc tttatcttct
      541 caacaccgtg gagatgcaga ccaggccagt aacattttgg ccagctttgg tctgtctgct
      601 agagacttag atgaactgag tcgttatcca gaggacaaga ttactcctga gaatttgccc
      661 caaatccttc tacagcttaa aaggaggaga actgaagaag gccctacctt gagttatggt
      721 agagatggca gatctgctac acgggagcca ccatacagag tacctaggga tgattgggaa
      781 gaaaaaaggc actttagaag agatagtttt gatgatcgtg gtcctagtct caacccagtg
      841 cttgattatg accatggaag tcgttctcaa gaatctggtt attatgacag aatggattat
      901 gaagatgaca gattaagaga tggagaaagg tgtagggatg attctttttt tggtgagacc
      961 tcgcataact atcataaatt tgacagtgag tatgagagaa tgggacgtgg tcctggcccc
     1021 ttacaagaga gatctctctt tgagaaaaag agaggcgctc ctccaagtag caatattgaa
     1081 gacttccatg gactcttacc gaagggttat ccccatctgt gctctatatg tgatttgcca
     1141 gttcattcta ataaggagtg gagtcaacat atcaatggag caagtcacag tcgtcgatgc
     1201 cagcttcttc ttgaaatcta cccagaatgg aatcctgaca atgatacagg acacacaatg
     1261 ggtgatccat tcatgttgca gcagtctaca aatccagcac caggaattct gggacctcca
     1321 cctccctcat ttcatcttgg gggaccagca gttggaccaa gaggaaatct gggtgctgga
     1381 aatggaaacc tgcaaggacc tagacacatg cagaaaggca gagtggaaac tagcagagtt
     1441 gttcacatca tggattttca acgagggaaa aacttgagat accagctatt acagctggta
     1501 gaaccatttg gagtcatttc aaatcatctg attctaaata aaattaatga ggcatttatt
     1561 gaaatggcaa ccacagagga tgctcaggcc gcagtggatt attacacaac cacaccagcg
     1621 ttagtatttg gcaagccagt gagagttcat ttatcccaga agtataaaag aataaagaaa
     1681 cctgaaggaa agccagatca gaagtttgat caaaagcaag agcttggacg tgtgatacat
     1741 ctcagcaatt tgccgcattc tggctattct gatagtgctg ttctcaagct tgctgagcct
     1801 tatgggaaaa taaagaatta catattgatg aggatgaaaa gtcaggcttt tattgagatg
     1861 gagacaagag aagatgcaat ggcaatggtt gaccattgtt tgaaaaaagc cctttggttt
     1921 caggggagat gtgtgaaggt tgacctgtct gagaaatata aaaaactggt tctgaggatt
     1981 ccaaacagag gcattgattt actgaaaaaa gataaatccc gaaaaagatc ttactctcca
     2041 gatggcaaag aatctccaag tgataagaaa tccaaaactg atggttccca gaagactgag
     2101 agttcaaccg aaggtaaaga acaagaagag aagtccggtg aagatggtga gaaagacaca
     2161 aaggatgacc agacagagca ggaacctaat atgcttcttg aatctgaaga tgagctactt
     2221 gtagatgaag aagaagcagc agcactgcta gaaagtggca gttcagtggg agacgagacc
     2281 gatcttgcta atttaggtga tgtggcttct gatgggaaaa aggaaccatc agataaagct
     2341 gtgaaaaaag atggaagtgc ttcagcagca gcaaagaaaa agcttaaaaa ggtggacaag
     2401 atcgaggaac ttgatcaaga aaacgaagca gcgttggaaa atggaattaa aaatgaggaa
     2461 aacacagaac caggtgctga atcttctgag aacgctgatg atcccaacaa agatacaagt
     2521 gaaaacgcag atggtcaaag tgatgagaac aaggacgact atacaatccc agatgagtat
     2581 agaattggac catatcagcc caatgttcct gttggtatag actatgtgat acctaaaaca
     2641 gggttttact gtaagctgtg ttcactcttt tatacaaatg aagaagttgc aaagaatact
     2701 cattgcagca gccttcctca ttatcagaaa ttaaagaaat ttctgaataa attggcagaa
     2761 gaacgcagac agaagaagga aacttaagat gtgcaaggag atttaatgat ttcaaagaaa
     2821 ataatggttc tttgttttta atgttaacct tttttaaata caatactgat agttagaaga
     2881 aaactattgt actcttttgt tttagtggag aaataataga tgtctgttca tgtgttaagt
     2941 gttatagcaa aaaaaataca catatggtta agttaatgaa tagtttttgt tttatcagaa
     3001 tggcaacaga cagaagtact ttgtagagat tgacttccta agctacttaa gacaacttgc
     3061 accactaaga aaaaaatgta gaaccatttg gaaaaatgaa atttagtagt tccaagtttc
     3121 aaagaaatgt caacatttta ttccattcaa taaagaacaa aaccaatagt gtttttatta
     3181 ctttcatctg aaacattcca tgttttaatc tgagccttgc agactttcat ttggagtttg
     3241 aacccgtttt ggttgcattt catttttgga gaacttaatt aacgtgagat tggcaattga
     3301 aatgcaggtg cagttttctg ttaatgtcat gctgttgttt aggtaataag aaatattaag
     3361 taattggctt tagattttgt aatttttttc cctgagttcc tgctagattt cgtattctag
     3421 tagtcaatgt attttcagtg aaatgcaaaa atattcccgt tatctttgac cagtattaat
     3481 ttttgagatc ttactgcttg tcacttgaat cccgtgattg tcatacatct ctggtataag
     3541 caacatttga tttttgaagt gtgtagacca tctcttcata ttttcaagat gtaattttac
     3601 atttctgcat ttttaaaaca gtttggccat aatcctagat gcacgcttct aattcatgta
     3661 cctgcacatg tgacctttgt gaacagaaat ttgcatgtat aatttgtgtt tacttgtaac
     3721 tttctggtta tatactgctt atatctgtgg attcaagtta ctgaagtgaa taccaataaa
     3781 aagaaaaccc taggccatgt taattggtta tacatgtttg gaatgttaac caacgtattt
     3841 gtcagttgtg gtttttattc gctcttaaac tttgtgcatg ctttaacaat ttattacttt
     3901 taaatctaga gtgaattcta aagactgccg ctaaagatct gagttttaaa aatgttgttg
     3961 ctggtggatt tcttgttcct gttacataac taaaagtgag gccatttgtg gtttttaaaa
     4021 accttatgaa ttaaaaatgc tacaggtgaa caaacagaag cttatgttta gagatattga
     4081 tgacttaaca gtacaattgg aagtaatacg gatgagcaag aattagttct gcagcttttc
     4141 aaaataatta cgtagagact cttggtatat tggattatct gttgtaaaca attttttttt
     4201 cttccctgac acagggtctc actctgtcac ccagactgga gtgcagtggc acagttctct
     4261 gcaacctcag cctttgggct caaatgaccc tcctacctca gtctcctgag tagctgggac
     4321 tacaggctca tgccactata cctggctagt ttttggtttt tttgtataga tggggctttg
     4381 ccatgttgcc caggttgatc ttgaattcct gggcccaagt gatctgctcg cttcagcctc
     4441 ccaaagtgct gggactgtag gcatgagcca ccatccctgg ccaagaaaca aagttttaat
     4501 ttcaaaaaaa tctacaaaaa caggataggc attgtctttc aaatgttcag accccagttt
     4561 attaaaggat acttcaaata gttggctaaa ttttatgatc tctcccgttg aaaagtaggt
     4621 gatgatttta atgtgacatg cacaaaaaat ccttgccagt ttacttctgc aatttaattt
     4681 tagcctttac taattaccca cttctgttta attccaattt ttaacagcag gtacataaag
     4741 cattatgtgc acaatggagt tcttcagtgt ttcctttcag tgatggcttt ttcatagctt
     4801 caactttgtt ggatttagca agttgaagga aagaatgcta tgtttttaat acctacattt
     4861 gagagcattt agaaatcaga aattataata agctgttagt gataaatctg taacagccct
     4921 tcgattacga gaaaacctct ttttagtagg aatgtttcca ctcatgtttg ctgtaaagtt
     4981 taagaacatt tttcctacgg ctatgtcagc ccttagttta atcttacatt atcctacaaa
     5041 agtgaatgaa acttctagaa gtaccttga
//
