LOCUS       NM_004630               3282 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.
ACCESSION   NM_004630
VERSION     NM_004630.4
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 3282)
  AUTHORS   Dottermusch,M., Ryba,A., Ricklefs,F.L., Flitsch,J., Schmid,S.,
            Glatzel,M., Saeger,W., Neumann,J.E. and Schuller,U.
  TITLE     Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show
            distinct clinicopathological and molecular features
  JOURNAL   Acta Neuropathol 147 (1), 16 (2024)
   PUBMED   38228887
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3282)
  AUTHORS   Chi,E.S., Stivison,E.A. and Blind,R.D.
  TITLE     SF-1 Induces Nuclear PIP2
  JOURNAL   Biomolecules 13 (10), 1509 (2023)
   PUBMED   37892191
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3282)
  AUTHORS   Asa,S.L., Mete,O., Riddle,N.D. and Perry,A.
  TITLE     Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing
            PIT1 and SF1
  JOURNAL   Endocr Pathol 34 (3), 273-278 (2023)
   PUBMED   37268858
REFERENCE   4  (bases 1 to 3282)
  AUTHORS   Nameki,N., Takizawa,M., Suzuki,T., Tani,S., Kobayashi,N.,
            Sakamoto,T., Muto,Y. and Kuwasako,K.
  TITLE     Structural basis for the interaction between the first SURP domain
            of the SF3A1 subunit in U2 snRNP and the human splicing factor SF1
  JOURNAL   Protein Sci 31 (10), e4437 (2022)
   PUBMED   36173164
  REMARK    GeneRIF: Structural basis for the interaction between the first
            SURP domain of the SF3A1 subunit in U2 snRNP and the human splicing
            factor SF1.
REFERENCE   5  (bases 1 to 3282)
  AUTHORS   Zhang,D. and Childs,G.
  TITLE     Human ZFM1 protein is a transcriptional repressor that interacts
            with the transcription activation domain of stage-specific
            activator protein
  JOURNAL   J Biol Chem 273 (12), 6868-6877 (1998)
   PUBMED   9506990
REFERENCE   6  (bases 1 to 3282)
  AUTHORS   Caslini,C., Spinelli,O., Cazzaniga,G., Golay,J., De Gioia,L.,
            Pedretti,A., Breviario,F., Amaru,R., Barbui,T., Biondi,A.,
            Introna,M. and Rambaldi,A.
  TITLE     Identification of two novel isoforms of the ZNF162 gene: a growing
            family of signal transduction and activator of RNA proteins
  JOURNAL   Genomics 42 (2), 268-277 (1997)
   PUBMED   9192847
REFERENCE   7  (bases 1 to 3282)
  AUTHORS   Abovich,N. and Rosbash,M.
  TITLE     Cross-intron bridging interactions in the yeast commitment complex
            are conserved in mammals
  JOURNAL   Cell 89 (3), 403-412 (1997)
   PUBMED   9150140
REFERENCE   8  (bases 1 to 3282)
  AUTHORS   Arning,S., Gruter,P., Bilbe,G. and Kramer,A.
  TITLE     Mammalian splicing factor SF1 is encoded by variant cDNAs and binds
            to RNA
  JOURNAL   RNA 2 (8), 794-810 (1996)
   PUBMED   8752089
REFERENCE   9  (bases 1 to 3282)
  AUTHORS   Toda,T., Iida,A., Miwa,T., Nakamura,Y. and Imai,T.
  TITLE     Isolation and characterization of a novel gene encoding nuclear
            protein at a locus (D11S636) tightly linked to multiple endocrine
            neoplasia type 1 (MEN1)
  JOURNAL   Hum Mol Genet 3 (3), 465-470 (1994)
   PUBMED   7912130
REFERENCE   10 (bases 1 to 3282)
  AUTHORS   Kramer,A.
  TITLE     Purification of splicing factor SF1, a heat-stable protein that
            functions in the assembly of a presplicing complex
  JOURNAL   Mol Cell Biol 12 (10), 4545-4552 (1992)
   PUBMED   1406644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC370979.1, DC368015.1,
            Y08765.1 and BC069273.1.
            
            On Jun 2, 2019 this sequence version replaced NM_004630.3.
            
            Summary: This gene encodes a nuclear pre-mRNA splicing factor. The
            encoded protein specifically recognizes the intron branch point
            sequence at the 3' splice site, together with the large subunit of
            U2 auxiliary factor (U2AF), and is required for the early stages of
            spliceosome assembly. It also plays a role in nuclear pre-mRNA
            retention and transcriptional repression. The encoded protein
            contains an N-terminal U2AF ligand motif, a central hnRNP K
            homology motif and quaking 2 region which bind a key branch-site
            adenosine within the branch point sequence, a zinc knuckles domain,
            and a C-terminal proline-rich domain. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Oct 2016].
            
            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 :: L49380.1, Y08765.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377390.8/ ENSP00000366607.3
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-114               DC370979.1         303-416
            115-148             DC368015.1         373-406
            149-3083            Y08765.1           41-2975
            3084-3282           BC069273.1         2656-2854
FEATURES             Location/Qualifiers
     source          1..3282
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..3282
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /note="splicing factor 1"
                     /db_xref="GeneID:7536"
                     /db_xref="HGNC:HGNC:12950"
                     /db_xref="MIM:601516"
     exon            1..181
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     CDS             151..2070
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger protein 162; transcription factor ZFM1; branch
                     point-binding protein; zinc finger gene in MEN1 locus;
                     mammalian branch point-binding protein"
                     /codon_start=1
                     /product="splicing factor 1 isoform 1"
                     /protein_id="NP_004621.2"
                     /db_xref="CCDS:CCDS31599.1"
                     /db_xref="GeneID:7536"
                     /db_xref="HGNC:HGNC:12950"
                     /db_xref="MIM:601516"
                     /translation="MATGANATPLDFPSKKRKRSRWNQDTMEQKTVIPGMPTVIPPGL
                     TREQERAYIVQLQIEDLTRKLRTGDLGIPPNPEDRSPSPEPIYNSEGKRLNTREFRTR
                     KKLEEERHNLITEMVALNPDFKPPADYKPPATRVSDKVMIPQDEYPEINFVGLLIGPR
                     GNTLKNIEKECNAKIMIRGKGSVKEGKVGRKDGQMLPGEDEPLHALVTANTMENVKKA
                     VEQIRNILKQGIETPEDQNDLRKMQLRELARLNGTLREDDNRILRPWQSSETRSITNT
                     TVCTKCGGAGHIASDCKFQRPGDPQSAQDKARMDKEYLSLMAELGEAPVPASVGSTSG
                     PATTPLASAPRPAAPANNPPPPSLMSTTQSRPPWMNSGPSESRPYHGMHGGGPGGPGG
                     GPHSFPHPLPSLTGGHGGHPMQHNPNGPPPPWMQPPPPPMNQGPHPPGHHGPPPMDQY
                     LGSTPVGSGVYRLHQGKGMMPPPPMGMMPPPPPPPSGQPPPPPSGPLPPWQQQQQQPP
                     PPPPPSSSMASSTPLPWQQNTTTTTTSAGTGSIPPWQQQQAAAAASPGAPQMQGNPTM
                     VPLPPGVQPPLPPGAPPPPPPPPPGSAGMMYAPPPPPPPPMDPSNFVTMMGMGVAGMP
                     PFGMPPAPPPPPPQN"
     exon            182..310
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            311..386
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            387..539
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            540..629
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            630..813
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            814..929
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1037
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1218
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1492
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1552
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1732
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..3282
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3256..3261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /note="hexamer: AATAAA"
     polyA_site      3282
                     /gene="SF1"
                     /gene_synonym="BBP; D11S636; MBBP; ZCCHC25; ZFM1; ZNF162"
                     /note="major polyA site"
ORIGIN      
        1 gtgcgtctcg cgccgccgcc gcccgccgcg tgagaggacg ggctccgcgc gctccggcag
       61 cgcattcggg tcccctcccc ccgggaggct tgcgaaggag aagccgccgc agaggaaaag
      121 caggtgccgg tgcctgtccc cgggggcgcc atggcgaccg gagcgaacgc cacgccgttg
      181 gacttcccaa gtaagaagcg gaagaggagc cgctggaacc aagacacaat ggaacagaag
      241 acagtgattc caggaatgcc tacagttatt ccccctggac ttactcgaga acaagaaaga
      301 gcttatatag tgcaactgca gatagaagac ctgactcgta aactgcgcac aggagacctg
      361 ggcatccccc ctaaccctga ggacaggtcc ccttcccctg agcccatcta caatagcgag
      421 gggaagcggc ttaacacccg agagttccgc acccgcaaaa agctggaaga ggagcggcac
      481 aacctcatca cagagatggt tgcactcaat ccggatttca agccacctgc agattacaaa
      541 cctccagcaa cacgtgtgag tgataaagtc atgattccac aagatgagta cccagaaatc
      601 aactttgtgg ggctgctcat cgggcccaga gggaacaccc tgaagaacat agagaaggag
      661 tgcaatgcca agattatgat ccgggggaaa gggtctgtga aagaagggaa ggttgggcgc
      721 aaagatggcc agatgttgcc aggagaagat gagccacttc atgccctggt tactgccaat
      781 acaatggaga acgtcaaaaa ggcagtggaa cagataagaa acatcctgaa gcagggtatc
      841 gagactccag aggaccagaa tgatctacgg aagatgcagc ttcgggagtt ggctcgctta
      901 aatgggaccc ttcgggaaga cgataacagg atcttaagac cctggcagag ctcagagacc
      961 cgcagcatta ccaacaccac agtgtgtacc aagtgtggag gggctggcca cattgcttca
     1021 gactgtaaat tccaaaggcc tggtgatcct cagtcagctc aggataaagc acggatggat
     1081 aaagaatatt tgtccctcat ggctgaactg ggtgaagcac ctgtcccagc atctgtgggc
     1141 tccacctctg ggcctgccac cacacccctg gccagcgcac ctcgtcctgc tgctcccgcc
     1201 aacaacccac ctccaccgtc tctcatgtct accacccaga gccgcccacc ctggatgaat
     1261 tctggccctt cagagagtcg gccctaccac ggcatgcatg gaggtggtcc tggtgggccc
     1321 ggaggtggcc cccacagctt cccacaccca ttacccagcc tgacaggtgg gcatggtgga
     1381 catcccatgc agcacaaccc caatggaccc ccaccccctt ggatgcagcc accaccacca
     1441 ccgatgaacc agggccccca ccctcctggg caccatggcc ctcctccaat ggatcagtac
     1501 ctgggaagta cgcctgtggg ctctggggtc tatcgcctgc atcaaggaaa aggtatgatg
     1561 ccgccaccac ctatgggcat gatgccgccg ccgccgccgc ctcccagtgg gcagccccca
     1621 ccccctccct ctggtcctct tcccccatgg caacaacagc agcagcagcc tccgccaccc
     1681 cctccgccca gcagcagtat ggcttccagt acccccttgc catggcagca aaatacgacg
     1741 actaccacca cgagcgctgg cacagggtcc atcccgccat ggcaacagca gcaggcggct
     1801 gccgcagctt ctccaggagc ccctcagatg caaggcaacc ccactatggt gcccctgccc
     1861 cccggggtcc agccgcctct gccgcctggg gcccctcccc ctccgccgcc tccaccgcct
     1921 ggttccgccg gcatgatgta tgccccgccc cctcctcctc cgcctcccat ggacccttct
     1981 aactttgtca ccatgatggg catgggggtg gcgggcatgc cgcccttcgg gatgcctcca
     2041 gctcccccac cgcctccacc acagaactag acttgttttt taagaaaata tatattatat
     2101 atagagagaa ttggtctcgt ttaaacacgc cgaacctcac catatggagc cagacattgg
     2161 gacgcacgca tgtgattgtg tgtgcacgca tgtgtgtgtg tgcacgcact gggctgggcc
     2221 aagcgactga ggattcgctt gggaacgggc aggtggtagt aggggcgcca gcttgggctc
     2281 tcctggcgcc ccgtagcatc gagtgtcttc tttgtcttct ttctctcctc acccaactcc
     2341 ctttgcctct ccccaaaccg ggccgccagg atccctcccc gcggcggcga tggcccgagc
     2401 catgagagtg aggactttcc gcgcccattg gtgacccttc caggcagaca gcctcagcaa
     2461 cgcccctggt ggacaggatg gttcggcaaa gcagcctgag ttatttttgt ggacggaatc
     2521 ggaacacgct ggctccatat cgtgaaattt ttattaattt ttttcttttt cctttgttac
     2581 ttctttatct tttcctttct tcagactccg tccaaggaga tgctctcccc ggtcttctgc
     2641 tgcaatttag attcctttcc cttctctcca gttctccttc ccttaccaag gagaggggag
     2701 caaatggttt tgggcaaggg ctttggccat tcatgtcaag ctggttgtgg gtttttcaag
     2761 gtgccatagc cacccccaaa gatgtttgtt taaagcgtgg ggttttttaa tctctgccac
     2821 ccttgtcaag ggagtcttgt aaagttgccg agggtaggtt catctccagg tttcgggatt
     2881 cccatccgtc ctggcgatcc tgccagcagt gggtgggcag cctgagctcc ctcgggctcg
     2941 cctgccagcc tggagttctt cctgtgctcc ttgatcacct gagctgcctc agattccatt
     3001 tggtcctctc cttcctggaa ggcttccttt tatgttttgt tttaatccca aatgtctgaa
     3061 tgttttgcag tgtgtagggg tttgagcccc ttgttcattc tccttccttt ttcctcccgc
     3121 ttccctctcc atgaagtgat tctgttgaca ataatgtata ctgcgcgttc tcttcactgg
     3181 tttatctgca gaaatttctc tgggcttttt tcggtgttag attcaacact gcgctaaagc
     3241 ggggatgttc cattgaataa aagagcagtg tggttttctg gg
//
