LOCUS       NM_001271838            2597 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens arginine and serine rich coiled-coil 1 (RSRC1),
            transcript variant 1, mRNA.
ACCESSION   NM_001271838
VERSION     NM_001271838.2
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 2597)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2597)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2597)
  AUTHORS   Scala,M., Mojarrad,M., Riazuddin,S., Brigatti,K.W., Ammous,Z.,
            Cohen,J.S., Hosny,H., Usmani,M.A., Shahzad,M., Riazuddin,S.,
            Stanley,V., Eslahi,A., Person,R.E., Elbendary,H.M., Comi,A.M.,
            Poskitt,L., Salpietro,V., Genomics,Q.S., Rosenfeld,J.A.,
            Williams,K.B., Marafi,D., Xia,F., Biderman Waberski,M., Zaki,M.S.,
            Gleeson,J., Puffenberger,E., Houlden,H. and Maroofian,R.
  TITLE     RSRC1 loss-of-function variants cause mild to moderate autosomal
            recessive intellectual disability
  JOURNAL   Brain 143 (4), e31 (2020)
   PUBMED   32227164
  REMARK    GeneRIF: Our findings support the pathogenic role of biallelic
            loss-of-function RSRC1 variants in autosomal recessive intellectual
            disability, in addition to contributing to the phenotypic
            delineation of this emerging condition
REFERENCE   4  (bases 1 to 2597)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2597)
  AUTHORS   Yu,S., Gautam,N., Quan,M. and Gao,Y.
  TITLE     RSRC1 suppresses gastric cancer cell proliferation and migration by
            regulating PTEN expression
  JOURNAL   Mol Med Rep 20 (2), 1747-1753 (2019)
   PUBMED   31257492
  REMARK    GeneRIF: RSRC1 knockdown promoted the proliferation and migration
            of gastric cancer cells. In addition, the knockdown of RSRC1
            decreased the expression of phosphatase and tensin homolog deleted
            on chromosome 10 (PTEN), a potent tumor suppressor gene controlling
            cellular growth and viability.
REFERENCE   6  (bases 1 to 2597)
  AUTHORS   Weimann,M., Grossmann,A., Woodsmith,J., Ozkan,Z., Birth,P.,
            Meierhofer,D., Benlasfer,N., Valovka,T., Timmermann,B.,
            Wanker,E.E., Sauer,S. and Stelzl,U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   7  (bases 1 to 2597)
  AUTHORS   Potkin,S.G., Macciardi,F., Guffanti,G., Fallon,J.H., Wang,Q.,
            Turner,J.A., Lakatos,A., Miles,M.F., Lander,A., Vawter,M.P. and
            Xie,X.
  TITLE     Identifying gene regulatory networks in schizophrenia
  JOURNAL   Neuroimage 53 (3), 839-847 (2010)
   PUBMED   20600988
  REMARK    Review article
REFERENCE   8  (bases 1 to 2597)
  AUTHORS   Potkin,S.G., Turner,J.A., Fallon,J.A., Lakatos,A., Keator,D.B.,
            Guffanti,G. and Macciardi,F.
  TITLE     Gene discovery through imaging genetics: identification of two
            novel genes associated with schizophrenia
  JOURNAL   Mol Psychiatry 14 (4), 416-428 (2009)
   PUBMED   19065146
  REMARK    GeneRIF: This study use Functional MRI and Genome Wide Association
            Analysis indentic novel gene(RSRC1) associated with schizophrenia.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2597)
  AUTHORS   Cazalla,D., Newton,K. and Caceres,J.F.
  TITLE     A novel SR-related protein is required for the second step of
            Pre-mRNA splicing
  JOURNAL   Mol Cell Biol 25 (8), 2969-2980 (2005)
   PUBMED   15798186
REFERENCE   10 (bases 1 to 2597)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA273191.1, AF208853.1,
            BC006982.1, BG205691.1 and AC106707.9.
            
            On Nov 22, 2018 this sequence version replaced NM_001271838.1.
            
            Summary: This gene encodes a member of the serine and arginine
            rich-related protein family. The encoded protein is involved in
            both constitutive and alternative mRNA splicing. This gene may be
            associated with schizophrenia. A pseudogene of this gene is located
            on chromosome 9. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Both variants 1 and
            2 encode the same protein.
            
            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 :: SRR1803611.397944.1,
                                           SRR3476690.702411.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000611884.5/ ENSP00000481697.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA273191.1         38-54
            18-585              AF208853.1         1-568
            586-1660            BC006982.1         560-1634
            1661-1702           BG205691.1         28-69               c
            1703-2597           AC106707.9         154582-155476
FEATURES             Location/Qualifiers
     source          1..2597
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32"
     gene            1..2597
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /note="arginine and serine rich coiled-coil 1"
                     /db_xref="GeneID:51319"
                     /db_xref="HGNC:HGNC:24152"
                     /db_xref="MIM:613352"
     exon            1..135
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            136..331
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..1142
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /note="isoform 1 is encoded by transcript variant 1;
                     splicing factor, arginine/serine-rich 21;
                     arginine/serine-rich coiled-coil 1; arginine/serine-rich
                     coiled-coil protein 1; serine/Arginine-related protein 53"
                     /codon_start=1
                     /product="serine/Arginine-related protein 53 isoform 1"
                     /protein_id="NP_001258767.1"
                     /db_xref="CCDS:CCDS3181.1"
                     /db_xref="GeneID:51319"
                     /db_xref="HGNC:HGNC:24152"
                     /db_xref="MIM:613352"
                     /translation="MGRRSSDTEEESRSKRKKKHRRRSSSSSSSDSRTYSRKKGGRKS
                     RSKSRSWSRDLQPRSHSYDRRRRHRSSSSSSYGSRRKRSRSRSRGRGKSYRVQRSRSK
                     SRTRRSRSRPRLRSHSRSSERSSHRRTRSRSRDRERRKGRDKEKREKEKDKGKDKELH
                     NIKRGESGNIKAGLEHLPPAEQAKARLQLVLEAAAKADEALKAKERNEEEAKRRKEED
                     QATLVEQVKRVKEIEAIESDSFVQQTFRSSKEVKKSVEPSEVKQATSTSGPASAVADP
                     PSTEKEIDPTSIPTAIKYQDDNSLAHPNLFIEKADAEEKWFKRLIALRQERLMGSPVA
                     "
     exon            332..457
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            458..631
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            632..668
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            669..720
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            721..789
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            790..896
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1049
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..2597
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2577..2582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /note="hexamer: AATAAA"
     polyA_site      2597
                     /gene="RSRC1"
                     /gene_synonym="BM-011; MRT70; SFRS21; SRrp53"
                     /note="major polyA site"
ORIGIN      
        1 agaaccagga aggcgctgag cttaaactga agcaagttcg gtggacgccg gcggcgccct
       61 gatctaaaga aacgactcag ggactgcggc gcttgcacgt caacgggagg tgtgagccca
      121 aaggtctgga cccagaaatg ggacgtcggt catcagatac tgaagaagaa agcagaagca
      181 agagaaaaaa gaaacaccgt agacggtcct cctcgagcag ttcttcagat agtagaacat
      241 acagccgaaa gaaaggagga aggaaatcaa gatcaaagtc aagatcttgg tccagagatc
      301 ttcagcctcg ttcacattct tatgatagaa gacgcaggca tcgatcaagc agtagctctt
      361 cttatggctc cagaaggaaa cgaagtcgaa gtcgttcaag gggtcgaggg aaatcctata
      421 gagttcagag gtctaggtca aaaagcagaa caagaaggtc caggtcaaga cctcgtctcc
      481 gttctcatag tcgtagcagt gaaaggtcca gtcacagaag aacgcgtagt cggtctcggg
      541 atagagaacg acgtaagggc agagataaag agaaaagaga aaaggagaag gataaaggga
      601 aggacaagga attacataac atcaaacgtg gggaatctgg aaacatcaaa gctggattag
      661 aacatctgcc accagctgaa caggccaaag ccagactaca gctggttctt gaagctgctg
      721 caaaagctga tgaagcattg aaagccaaag aaagaaatga ggaagaagca aagagaagaa
      781 aggaggaaga ccaagccacc ctggtagaac aagtaaaaag agtaaaagaa attgaagcta
      841 ttgaaagtga ttcttttgtt cagcagacat tcagatcaag taaagaagtc aaaaagtcag
      901 tggaacctag tgaagtgaaa caagcaactt caacatcagg accagcatca gcagttgctg
      961 atccacccag tactgaaaaa gaaatagatc ctaccagcat ccctactgct atcaagtacc
     1021 aagatgacaa ttccctggcc catccaaatt tatttatcga gaaagctgat gctgaggaaa
     1081 aatggttcaa gagattaatt gctctccgac aagaaagact aatgggcagt cctgtggcct
     1141 aagtaatata catatagttg gattggattg tcagcagtaa cattggaaat ttaggttttt
     1201 aaatcccaat attaactttt tactcttaaa aagaattttg ctgattatat ataaaggtag
     1261 tctcatttca tttgtctctc atgtaggctt gaatatttgt taatttgaat taaatcaaac
     1321 attgtaaaaa ttaaaacaaa atttaagatt gcatgaaaat gttatactgt taataaagct
     1381 aaacataaat aagtctgtta aaatgaatgg tagacactag tgtttcttag tgcaattcaa
     1441 aaaatgtcaa gatgtcattt aaagacacaa ttttgattaa ttatgcatac atgagaattg
     1501 aattacatgc tataaatatg agatttcatc ttccgtatgg tattcaacca tttttaaata
     1561 ttttatttca ccatattgca aatttttagg cacaataaaa agcaccctaa acaatgtaag
     1621 cagaatgtgc atgttaaaga acatatttat ggaaaaaaaa tttttgaaac ttaaataaat
     1681 tggtgatttt gcttagagat cagcttctac tagatgctcc tttacaacat gttagcagat
     1741 ctcagctcat tgttttagaa atcacatgtt catgctagac ctaaccagtt ggccaaatac
     1801 ctatgatgga gaaatcattt ctgagaaaac tgataagagc tctcacttca gtcttactta
     1861 ccccactgct attccctgtg gagaaagccg gctaattgtt ttgataaggc tatctgccat
     1921 tgtagaatac ctttctctag tagctgaatg acaatcaact atacgttcca tactaaacat
     1981 gccagagata ggacttttag gccttgcttt acaaaactgg tttttaacag ctgacatgaa
     2041 tatttcccgt ttctattttc tttttttttt tttttttttt ttttttgaga cggagtctcg
     2101 ctctatcccc catgctggag tgcagtggcg cgatctcagc tcactgcaag ctccgcctcc
     2161 caggttcacg ccattttctt gcctcagcct cccgagtagc tgggactaca ggcacccgct
     2221 aacatgccca gctaattttt tgtgttttta gtagagatgg ggtttcacca ttttagccag
     2281 gatggtctat tttcttctgt tgtccagtca ctaatttagt ctctgcgaag actgtagctc
     2341 agaacaaaag ataagcaaaa aaagtcttca gggtaggact gccaacatat aggacatttt
     2401 aatgccatct tctttatatt tctgggacat taaaattcaa atctctgttg aaaatgaaaa
     2461 atgtaaaact tagttgcaaa cagtatagaa aataagtgat gatgaaatat ttgttttcat
     2521 acaaacatgc tttcccattc taaatagatg ctagttttct tttttccttg gctgtaaata
     2581 aaagtgcccc aaatgaa
//
