LOCUS       NM_005706               1472 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4),
            transcript variant 3, mRNA.
ACCESSION   NM_005706 XM_005252722
VERSION     NM_005706.4
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 1472)
  AUTHORS   Bergfort,A., Hilal,T., Kuropka,B., Ilik,I.A., Weber,G., Aktas,T.,
            Freund,C. and Wahl,M.C.
  TITLE     The intrinsically disordered TSSC4 protein acts as a helicase
            inhibitor, placeholder and multi-interaction coordinator during
            snRNP assembly and recycling
  JOURNAL   Nucleic Acids Res 50 (5), 2938-2958 (2022)
   PUBMED   35188580
REFERENCE   2  (bases 1 to 1472)
  AUTHORS   Klimesova,K., Vojackova,J., Radivojevic,N., Vandermoere,F.,
            Bertrand,E., Verheggen,C. and Stanek,D.
  TITLE     TSSC4 is a component of U5 snRNP that promotes tri-snRNP formation
  JOURNAL   Nat Commun 12 (1), 3646 (2021)
   PUBMED   34131137
  REMARK    GeneRIF: TSSC4 is a component of U5 snRNP that promotes tri-snRNP
            formation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1472)
  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   4  (bases 1 to 1472)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   5  (bases 1 to 1472)
  AUTHORS   Lee,O.H., Kim,H., He,Q., Baek,H.J., Yang,D., Chen,L.Y., Liang,J.,
            Chae,H.K., Safari,A., Liu,D. and Songyang,Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   6  (bases 1 to 1472)
  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 1472)
  AUTHORS   Paulsen,M., El-Maarri,O., Engemann,S., Strodicke,M., Franck,O.,
            Davies,K., Reinhardt,R., Reik,W. and Walter,J.
  TITLE     Sequence conservation and variability of imprinting in the
            Beckwith-Wiedemann syndrome gene cluster in human and mouse
  JOURNAL   Hum Mol Genet 9 (12), 1829-1841 (2000)
   PUBMED   10915772
REFERENCE   8  (bases 1 to 1472)
  AUTHORS   Lee,M.P., Brandenburg,S., Landes,G.M., Adams,M., Miller,G. and
            Feinberg,A.P.
  TITLE     Two novel genes in the center of the 11p15 imprinted domain escape
            genomic imprinting
  JOURNAL   Hum Mol Genet 8 (4), 683-690 (1999)
   PUBMED   10072438
  REMARK    GeneRIF: TSSC4 gene, located in the center of the 11p15 imprinted
            region, escapes genomic imprinting.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC050616.1, BC006091.1,
            AC124057.12 and AF125568.1.
            
            On Nov 23, 2018 this sequence version replaced NM_005706.3.
            
            Summary: This gene is one of several tumor-suppressing
            subtransferable fragments located in the imprinted gene domain of
            11p15.5, an important tumor-suppressor gene region. Alterations in
            this region have been associated with the Beckwith-Wiedemann
            syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma,
            and lung, ovarian, and breast cancer. This gene is located among
            several imprinted genes; however, this gene, as well as the
            pan-hematopoietic expression gene (PHEMX), escapes imprinting. This
            gene may play a role in malignancies and disease that involve this
            region. Several transcript variants encoding two different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, and 4 all encode the same isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.286738.1,
                                           SRR3476690.966954.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333256.11/ ENSP00000331087.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BC050616.1         263-287
            26-1049             BC006091.1         1-1024
            1050-1050           AC124057.12        136637-136637       c
            1051-1472           AF125568.1         1003-1424
FEATURES             Location/Qualifiers
     source          1..1472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1472
                     /gene="TSSC4"
                     /note="tumor suppressing subtransferable candidate 4"
                     /db_xref="GeneID:10078"
                     /db_xref="HGNC:HGNC:12386"
                     /db_xref="MIM:603852"
     exon            1..49
                     /gene="TSSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            50..206
                     /gene="TSSC4"
                     /inference="alignment:Splign:2.1.0"
     exon            207..1472
                     /gene="TSSC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             230..1219
                     /gene="TSSC4"
                     /note="isoform a is encoded by transcript variant 3;
                     protein TSSC4; tumor-suppressing STF cDNA 4 protein;
                     tumor-suppressing subchromosomal transferable fragment
                     candidate gene 4 protein; U5 small nuclear
                     ribonucleoprotein TSSC4"
                     /codon_start=1
                     /product="U5 small nuclear ribonucleoprotein TSSC4 isoform
                     a"
                     /protein_id="NP_005697.2"
                     /db_xref="CCDS:CCDS7735.1"
                     /db_xref="GeneID:10078"
                     /db_xref="HGNC:HGNC:12386"
                     /db_xref="MIM:603852"
                     /translation="MAEAGTGEPSPSVEGEHGTEYDTLPSDTVSLSDSDSDLSLPGGA
                     EVEALSPMGLPGEEDSGPDEPPSPPSGLLPATVQPFHLRGMSSTFSQRSRDIFDCLEG
                     AARRAPSSVAHTSMSDNGGFKRPLAPSGRSPVEGLGRAHRSPASPRVPPVPDYVAHPE
                     RWTKYSLEDVTEVSEQSNQATALAFLGSQSLAAPTDCVSSFNQDPSSCGEGRVIFTKP
                     VRGVEARHERKRVLGKVGEPGRGGLGNPATDRGEGPVELAHLAGPGSPEAEEWGSHHG
                     GLQEVEALSGSVHSGSVPGLPPVETVGFHGSRKRSRDHFRNKSSSPEDPGAEV"
     regulatory      1449..1454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSSC4"
                     /note="hexamer: AATAAA"
     polyA_site      1472
                     /gene="TSSC4"
                     /note="major polyA site"
ORIGIN      
        1 ggaggtgcgg cgccgaccaa gatggagact gccgagcagc cttgagccgt tgagcagctg
       61 aacagaggcc atgccggggc actccgaggc ctgagacgac cacgcctgtg ccgctgagga
      121 ccttcatcag ggctccgtcc acttggcccg cttggctgtc caatcacact ccagtgtcaa
      181 ccactggcac ccagcagcca agagaggtgt ggcgtggccc tggggacgca tggctgaggc
      241 aggaacaggt gagccgtccc ccagcgtgga gggcgaacac gggacggagt atgacacgct
      301 gccttccgac acagtctccc tcagtgactc ggactctgac ctcagcttgc ccggtggtgc
      361 tgaagtggaa gcactgtccc cgatggggct gcctggggag gaggattcag gtcctgatga
      421 gccgccctca cccccgtcag gcctcctccc agccacggtg cagccattcc atctgagagg
      481 catgagctcc accttctccc agcgcagccg tgacatcttt gactgcctgg agggggcggc
      541 cagacgggct ccatcctctg tggcccacac cagcatgagt gacaacggag gcttcaagcg
      601 gcccctagcg ccctcaggcc ggtctccagt ggaaggcctg ggcagggccc atcggagccc
      661 tgcctcacca agggtgcctc cggtccccga ctacgtggca caccccgagc gctggaccaa
      721 gtacagcctg gaagatgtga ccgaggtcag cgagcagagc aatcaggcca ccgccctggc
      781 cttcctgggc tcccagagcc tggctgcccc cactgactgc gtgtcctcct tcaaccagga
      841 tccctccagc tgtggggagg ggagggtcat cttcaccaaa ccagtccgag gggtcgaagc
      901 cagacacgag aggaagaggg tcctggggaa ggtgggagag ccaggcaggg gcggccttgg
      961 gaatcctgcc acagacaggg gcgagggccc tgtggagctg gcccatctgg ccgggcccgg
     1021 gagcccagag gctgaggagt ggggcagcca ccatggaggc ctgcaggagg tggaggcact
     1081 gtcagggtct gtccacagtg ggtctgtgcc aggtctcccg ccggtggaaa ctgttggctt
     1141 ccatggcagc aggaagcgga gtcgagacca cttccggaac aagagcagca gccccgagga
     1201 cccaggtgct gaggtctgag agggagatgg cccagcctga ccccactggc cactgccatc
     1261 ctgctgcctt cccagtgggg ctggtcaggg ggcagcctgg ccactgccta gctggaatgg
     1321 gaggaagcct gcaggtggca ccggtggccc tggctgcagt tctgggcagc atcctcccaa
     1381 gcagagacct tgctgaagct cctggggtgt ggggtgtggg ctggaagcac tggctccctg
     1441 gtagggacaa taaaggtttt gggtctttct ga
//
