LOCUS       NM_004592               3246 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens splicing factor SWAP (SFSWAP), transcript variant 2,
            mRNA.
ACCESSION   NM_004592
VERSION     NM_004592.4
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 3246)
  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 3246)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 3246)
  AUTHORS   Crisci,A., Raleff,F., Bagdiul,I., Raabe,M., Urlaub,H., Rain,J.C.
            and Kramer,A.
  TITLE     Mammalian splicing factor SF1 interacts with SURP domains of U2
            snRNP-associated proteins
  JOURNAL   Nucleic Acids Res 43 (21), 10456-10473 (2015)
   PUBMED   26420826
REFERENCE   4  (bases 1 to 3246)
  AUTHORS   Moayedi,Y., Basch,M.L., Pacheco,N.L., Gao,S.S., Wang,R.,
            Harrison,W., Xiao,N., Oghalai,J.S., Overbeek,P.A., Mardon,G. and
            Groves,A.K.
  TITLE     The candidate splicing factor Sfswap regulates growth and
            patterning of inner ear sensory organs
  JOURNAL   PLoS Genet 10 (1), e1004055 (2014)
   PUBMED   24391519
REFERENCE   5  (bases 1 to 3246)
  AUTHORS   Brasch-Andersen,C., Tan,Q., Borglum,A.D., Haagerup,A., Larsen,T.R.,
            Vestbo,J. and Kruse,T.A.
  TITLE     Significant linkage to chromosome 12q24.32-q24.33 and
            identification of SFRS8 as a possible asthma susceptibility gene
  JOURNAL   Thorax 61 (10), 874-879 (2006)
   PUBMED   16738036
REFERENCE   6  (bases 1 to 3246)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   7  (bases 1 to 3246)
  AUTHORS   Sarkissian,M., Winne,A. and Lafyatis,R.
  TITLE     The mammalian homolog of suppressor-of-white-apricot regulates
            alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS
  JOURNAL   J Biol Chem 271 (49), 31106-31114 (1996)
   PUBMED   8940107
REFERENCE   8  (bases 1 to 3246)
  AUTHORS   Denhez,F. and Lafyatis,R.
  TITLE     Conservation of regulated alternative splicing and identification
            of functional domains in vertebrate homologs to the Drosophila
            splicing regulator, suppressor-of-white-apricot
  JOURNAL   J Biol Chem 269 (23), 16170-16179 (1994)
   PUBMED   8206918
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC117500.13 and AC131009.7.
            
            On Jun 2, 2019 this sequence version replaced NM_004592.3.
            
            Summary: This gene encodes a human homolog of Drosophila splicing
            regulatory protein. This gene autoregulates its expression by
            control of splicing of its first two introns. In addition, it also
            regulates the splicing of fibronectin and CD45 genes. Two
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U08377.1, BC136678.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261674.9/ ENSP00000261674.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-358               AC117500.13        72903-73260         c
            359-528             AC117500.13        70110-70279         c
            529-660             AC117500.13        69397-69528         c
            661-746             AC117500.13        64811-64896         c
            747-972             AC117500.13        58720-58945         c
            973-1085            AC117500.13        57298-57410         c
            1086-1221           AC117500.13        55922-56057         c
            1222-1462           AC117500.13        30987-31227         c
            1463-1594           AC117500.13        29851-29982         c
            1595-1688           AC117500.13        28871-28964         c
            1689-1860           AC117500.13        27706-27877         c
            1861-2091           AC117500.13        19664-19894         c
            2092-2282           AC117500.13        18042-18232         c
            2283-2548           AC117500.13        6020-6285           c
            2549-2674           AC131009.7         4114-4239
            2675-2857           AC131009.7         14829-15011
            2858-2930           AC131009.7         16688-16760
            2931-3246           AC131009.7         17074-17389
FEATURES             Location/Qualifiers
     source          1..3246
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..3246
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /note="splicing factor SWAP"
                     /db_xref="GeneID:6433"
                     /db_xref="HGNC:HGNC:10790"
                     /db_xref="MIM:601945"
     exon            1..358
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..2996
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /note="isoform 2 is encoded by transcript variant 2;
                     splicing factor, arginine/serine-rich 8
                     (suppressor-of-white-apricot, Drosophila homolog);
                     splicing factor SWAP homolog; splicing factor,
                     arginine/serine-rich 8 (suppressor-of-white-apricot
                     homolog, Drosophila); suppressor of white apricot protein
                     homolog; splicing factor, suppressor of white-apricot
                     family; splicing factor, suppressor of white-apricot
                     homolog"
                     /codon_start=1
                     /product="splicing factor, suppressor of white-apricot
                     homolog isoform 2"
                     /protein_id="NP_004583.2"
                     /db_xref="CCDS:CCDS9273.1"
                     /db_xref="GeneID:6433"
                     /db_xref="HGNC:HGNC:10790"
                     /db_xref="MIM:601945"
                     /translation="MYGASGGRAKPERKSGAKEEAGPGGAGGGGSRVELLVFGYACKL
                     FRDDERALAQEQGQHLIPWMGDHKILIDRYDGRGHLHDLSEYDAEYSTWNRDYQLSEE
                     EARIEALCDEERYLALHTDLLEEEARQEEEYKRLSEALAEDGSYNAVGFTYGSDYYDP
                     SEPTEEEEPSKQREKNEAENLEENEEPFVAPLGLSVPSDVELPPTAKMHAIIERTASF
                     VCRQGAQFEIMLKAKQARNSQFDFLRFDHYLNPYYKFIQKAMKEGRYTVLAENKSDEK
                     KKSGVSSDNEDDDDEEDGNYLHPSLFASKKCNRLEELMKPLKVVDPDHPLAALVRKAQ
                     ADSSTPTPHNADGAPVQPSQVEYTADSTVAAMYYSYYMLPDGTYCLAPPPPGIDVTTY
                     YSTLPAGVTVSNSPGVTTTAPPPPGTTPLPPPTTAETSSGATSTTTTTSALAPVAAII
                     PPPPDVQPVIDKLAEYVARNGLKFETSVRAKNDQRFEFLQPWHQYNAYYEFKKQFFLQ
                     KEGGDSMQAVSAPEEAPTDSAPEKPSDAGEDGAPEDAAEVGARAGSGGKKEASSSKTV
                     PDGKLVKASFAPISFAIKAKENDLLPLEKNRVKLDDDSDDDEESKEGQESSSSAANTN
                     PAVAPPCVVVEEKKPQLTQEELEAKQAKQKLEDRLAAAAREKLAQASKESKEKQLQAE
                     RKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDR
                     PSSKSKDPPREEEKEKKKKKHKKRSRTRSRSPKYHSSSKSRSRSHSKAKHSLPSAYRT
                     VRRSRSRSRSPRRRAHSPERRREERSVPTAYRVSRSPGASRKRTRSRSPHEKKKKRRS
                     RSRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPVESRGSSQERSRGVSQEKEA
                     QISSAIVSSVQSKITQDLMAKVRAMLAASKNLQTSAS"
     exon            359..528
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            529..660
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            661..746
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            747..972
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1085
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1221
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1462
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1594
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1688
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1860
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1861..2091
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2282
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2283..2548
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2549..2674
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2675..2857
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2858..2930
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2931..3246
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3213..3218
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /note="hexamer: AATAAA"
     polyA_site      3246
                     /gene="SFSWAP"
                     /gene_synonym="SFRS8; SWAP"
                     /note="major polyA site"
ORIGIN      
        1 attttgtggc ccgctatggc ggcggtgttg aggttgggta cgggatgcgg ggtctttgac
       61 tgaaggggta ggccaagtgg aggtatcagg gacgtcgcgc ggcacagaag aggaccagcc
      121 tggacgccgg ggacgctgtc atgtacggcg cgagcggggg ccgcgccaaa cccgagagga
      181 aaagcggcgc gaaggaggag gccgggccag gcggtgccgg cggtgggggc agccgagtgg
      241 agctcttggt tttcggctat gcctgcaagc tgttccggga cgacgagcgg gccctggctc
      301 aggaacaggg acagcacctc atcccctgga tgggggacca caagatcctc atcgacagat
      361 atgatggacg tggtcacctg catgaccttt ctgagtacga tgctgagtat tccacgtgga
      421 acagagatta tcagctgtct gaagaggagg cgcgaataga ggccctgtgt gatgaagaga
      481 ggtatttagc cttgcatacg gacttgcttg aggaggaggc aaggcaagag gaagaataca
      541 agcgattgag tgaagcacta gcagaggatg ggagctacaa tgccgtgggg ttcacttacg
      601 gtagcgacta ttacgacccg tcagagccga cggaggagga ggagccttcc aaacagagag
      661 aaaaaaatga ggccgaaaat ttagaggaaa atgaagagcc cttcgttgcc cccttaggat
      721 tgagcgtccc gtctgacgtg gagttgccac caaccgctaa aatgcacgcc atcatcgagc
      781 gcacggccag cttcgtgtgc aggcagggag cacagtttga gatcatgctg aaggccaagc
      841 aggcccggaa ctcccagttt gactttctgc gcttcgacca ctacctcaac ccctactata
      901 agttcatcca gaaagccatg aaagagggac gctacactgt cctggcagaa aacaaaagtg
      961 acgagaaaaa aaaatcagga gtcagctctg acaatgaaga tgatgatgat gaagaagatg
     1021 ggaattacct tcatccctct ctctttgcct ccaagaagtg taaccgcctt gaagagctga
     1081 tgaagccctt gaaggtagtg gacccagatc atcccctcgc agcacttgtt cgtaaggcac
     1141 aggctgacag ttccactccc accccacaca acgcagacgg tgcgcctgtg cagccctccc
     1201 aggtggagta cacggcagac tcgaccgtgg cagccatgta ttacagctac tacatgctac
     1261 cggacggcac ttactgcctg gcgccgcccc ctcccggaat cgacgtgact acttactaca
     1321 gcacccttcc tgctggcgtg accgtgtcta actcccctgg agtgacgacc accgccccac
     1381 cacctcctgg gaccacacca ctaccgcccc caaccacagc agagactagc agcggggcca
     1441 cctccacaac caccaccaca agtgcacttg cccccgtggc cgccatcatc cccccgcccc
     1501 ccgacgtcca gcccgtgatt gacaagctgg ccgagtatgt cgccaggaac ggcctgaagt
     1561 tcgagaccag tgttcgtgcc aagaatgatc aaagatttga gttcctgcag ccgtggcacc
     1621 agtataatgc ttattatgag tttaagaagc agttcttcct ccagaaagaa gggggcgata
     1681 gcatgcaggc tgtgtctgca ccagaagagg ctcccacaga ctctgctccc gagaagccaa
     1741 gtgatgctgg ggaggatggc gcgcctgaag acgcagccga ggtgggagca cgggcaggct
     1801 caggcgggaa gaaggaggca tcgtccagta agaccgtccc ggacgggaag ctggtgaaag
     1861 cttcctttgc tccaataagc tttgcaatca aggccaaaga aaatgatctg cttcccctgg
     1921 aaaaaaatcg tgttaagcta gatgatgaca gtgatgatga tgaagaaagc aaagaaggcc
     1981 aagaaagttc tagtagtgct gcaaacacta acccagcagt tgccccaccc tgtgtagttg
     2041 ttgaggagaa gaagcctcaa cttacccagg aggagctaga agcaaagcaa gcaaagcaaa
     2101 agctggaaga tcgcctcgca gctgctgccc gggaaaagct ggcccaggcg tctaaggagt
     2161 caaaagagaa acagcttcaa gcagaacgta aaaggaaagc ggcgttattt ttacagaccc
     2221 tcaaaaatcc tctgccggaa gcagaagctg ggaaaattga ggagagtcct ttcagtgtcg
     2281 aggaatccag cactacgccc tgccctctac tgactggagg caggcctctg cctactttag
     2341 aagttaaacc acccgatagg ccttcgagca aaagcaaaga tccaccgaga gaagaagaga
     2401 aagaaaagaa aaagaaaaag cacaaaaaaa gatctcgaac aagatcacgt tctcccaagt
     2461 accattcgtc atccaagtcc aggtctagat cacactcaaa agcaaagcat tctcttccca
     2521 gtgcctatcg gacagtgcgg cggtcgaggt cccgctcccg gtcccctcgg aggagagccc
     2581 actcccctga gagacggagg gaagagagga gtgtgcccac tgcctaccgc gtgagccgca
     2641 gccctggggc cagtaggaag cggacccgct ccagaagtcc ccacgagaag aagaagaaga
     2701 ggcggtcccg gtcgcggacc aagtccaagg ccaggtctca gtcggtgtca cccagcaagc
     2761 aggcagcgcc ccggcccgcg gcccccgcgg cccactcggc gcactcagcc agcgtctccc
     2821 ctgtggagag tcggggctcc agccaggagc gctccagggg agtctctcag gaaaaagaag
     2881 cccagatctc ttcagcaatc gtttcttccg tgcagagcaa aatcactcag gatctcatgg
     2941 ccaaagtcag agcgatgctt gcagcttcca aaaacctgca aaccagcgct tcctgagacg
     3001 gggccagcgg aggcagagcc gggaggctgc gtgggcttct gggcaggctc acgcagacgc
     3061 cggccacacc atccacctgg ccgcctccat ggacccttgg tggcttttgt aaattaattt
     3121 ttgatgacat tttgagtttt aagatttctg accagcagtc tcttacctgt atatttgtaa
     3181 atatatcatg tttctgtgaa aatgtattat gaaataaaat gggaggaaac accttttcta
     3241 gctaga
//
